2011 National DNA Day Online Chatroom Transcript

The 2011 National DNA Day Moderated Chat was held on Friday, April 15th, 2011 from 8 a.m. to 6 p.m. Eastern. NHGRI Director Eric Green, M.D., Ph.D. and genomics experts from across the institute and around the nation took questions from students, teachers and the general public on topics ranging from basic genomic research, to the genetic basis of disease, to ethical questions about genetic privacy.

Sorry for the delay folks, the chatroom is now open. Feel free to send your questions. Happy chatting.

2

Which human chromosome contains the highest number of genes?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. The largest human chromosome, chromosome 1, has the highest number of genes, around three thousand. McDowell Intermediate High School in PA (10th grade teacher)

Now entering the chat is our expert Don Hadley! He is currently researching the components of a genetic counseling session, including how people are informed of genetic disorders and how they make decisions regarding genetic testing.

Our expert Kris Wetterstrand has entered the chat to answer your questions. She is the Scientific Liaison to the Director for Extramural Activities. For over ten years she has managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution.

5

What is the difference between splicing an alternative splicing?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. Splicing is when individuals parts, known as the exons, of a gene are brought together to make and messenger RNA (mRNA). The mRNA is then translated into the protein product. Alternative splicing refers to the fact that different combinations of exons within the same gene can be brought together to make different protein products. In other words, alternative splicing results in one gene being able to make multiple types of protein. Vilnius University (Higher Education teacher)

6

what part of the human genome excites you the most?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. I personally like the large-scale genetic duplications in the genome, also called structural variation. There are regions of the genome that contain huge repetitive sequences (1000s of bases that are are repeated 100s of times). These are thought to have significance in the structure of the DNA molecule, but may also contain genes or have other functionally significant sequences. 9619 in NH (12th grade student)

Now entering the chatroom is Phyllis Frosst. She is the Director of Collaborative Operations at the NIH center for translational therapeutics. She currently works on projects such as the Therapeutics for Rare and Neglected Diseases (TRND) program.

8

How close are we to designing traits in our childern? And what are the risks?      Phyllis Frosst, Ph.D.: I am the Director of Collaborative Operations at the NIH center for translational therapeutics. Currently I work on projects such as the Therapeutics for Rare and Neglected Diseases (TRND) program. Our understanding of our genome and how it functions is still very much a work in progress. We are a long way from "designing" traits in our children, and the ethical implications of doing so need a lot of thought and discussion. Really, there are technical limits to what we can accomplish, but there are a lot of societal questions we would need to answer before we would even consider this kind of idea. Risks to consider would take a whole day to discuss! The first one to consider is probably the unintended consequences of manipulating a complicated machine like a human. Somersworth High School in NH (10th grade student)

9

Should health care practitioners perform genetic testing of an unborn fetus when the results might lead its parents to abort the pregnancy?      Don Hadley, M.S., C.G.C.: I am currently researching the components of a genetic counseling session, including how people are informed of genetic disorders and how they make decisions regarding genetic testing. This is an important question and one that may have many different answers depending on the couple who is considering the results from the prenatal testing. At this point in time such testing is legal and routinely offered. However, I suspect you are asking this question from an ethical perspective. In other words, should our society be allowing such testing, which goes well beyond the health care provider' role and is a question often raised when considering the use of such technologies. I'd encourage you to discuss this question within your classroom. Somersworth High School in NH (12th grade student)

10

What is a typical day for you at work      Donna Krasnewich, M.D., Ph.D.: I am very knowledgeable about diseases resulting from inborn errors of metabolism. Jobs in the National Institutes of Health Clinical Center are quite exciting and most staff have many different responsibilities, teaching, clinical and administrative. When in the clinic we meet, examine and talk to people who have genetic diagnoses, sometimes children and their families, sometimes affected adults. We talk about the basis of their genetic story, explain what we understand about the disorder, how it is inherited and what we can do to help them have the best quality of life. We also listen alot, because their questions are important. Another important aspect of the job of a geneticist is to help people and their families cope with their diagnosis to make sure that they know they are not alone. Our teaching responsibilities are much like the teachers you know. We are training doctors, scientists and genetic counsellors to take care of people with genetic disorders. Enjoy DNA DAY and thanks for writing in!!!! McDowell Intermediate High School in PA (10th grade student)

11

Should physicians and health counselors tell patients that they might be at high risk for developing an illness because of their genetic makeup when there is no effective treatment or cure for that disease now?      Phyllis Frosst, Ph.D.: I am the Director of Collaborative Operations at the NIH center for translational therapeutics. Currently I work on projects such as the Therapeutics for Rare and Neglected Diseases (TRND) program. This is a question that researchers and clinicians discuss all the time, and opinions differ widely. Perhaps it's helpful to consider a disease like Alzheimer's where there is no cure and limited treatment, but knowing risk could be very beneficial for making decisions about life choices. In this case, offering people the option to find out their genetic risk factors is very much their choice. Somersworth High School in NH (12th grade student)

Now entering the chat is Michelle Snyder. She is a genetic counselor who works for the Genetic and Rare Diseases (GARD) Information Center where she helps people find useful information about genetic and rare diseases. GARD is funded by the National Human Genome Research Institute (NHGRI) and the NIH Office of Rare Diseases Research (ORDR).

13

Barr body usually has shape (it is not round). How can this happen?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. The Barr body is an inactivated X chromosome found within cells of females. The chromosome is inactivated by a number of mechanisms some of which also give the Barr body its compact shape, including histone modifications and direct modification of the DNA itself. Vilnius University (Higher Education teacher)

14

Durring replication DNA moves through replisome. How can such huge nucleic acid and protein complex (chromosome) be moved?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. The proteins involved in replication effectively "move" the DNA strand through shifting chemical bonds. Vilnius University (Higher Education teacher)

15

What happens to the fetus when it's in the uterus?      Don Hadley, M.S., C.G.C.: I am currently researching the components of a genetic counseling session, including how people are informed of genetic disorders and how they make decisions regarding genetic testing. The fetus undergoes an incredible transformation from a single fertilized cell into an amazingly complex human being. This transformation is directed by the combinations of genes contributed by each parent and significantly influenced by the safe and nuturing environment provided by the Mother's womb. I'd encourage you to learn more about the role of both genetics and "environment" in helping the fetus develop. Somersworth High School in NH (10th grade student)

Now entering the chat is Donna Krasnewich, M.D., Ph.D. She is very knowledgeable about diseases resulting from inborn errors of metabolism.

17

Can genetic technology be used to grow a limb in a human adult?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. Not at right now, but I'm sure that scientists (and the public) would be interested in someday having that technology. Somersworth High School in NH (10th grade student)

18

My 19 year old, with 2q37.3 deletion continues having seizures, other than traditional meds, any help on the research side?      Michelle Snyder, M.S., C.G.C.: I am a genetic counselor who works for the Genetic and Rare Diseases (GARD) Information Center where I help people find useful information about genetic and rare diseases. GARD is funded by the National Human Genome Research Institute (NHGRI) and the NIH Office of Rare Diseases Research (ORDR). Seizures occur in about 17 to 35% of people with 2q37.3 deletion syndrome. Not much is known about the seizures in 2q37.3 deletion syndrome because very little clinical information has been provided in most reports. For most chromosome disorders, treatment is based on the person's symptoms. CCBC in MD (Higher Education student)

19

Are there events when methylation induces gene expression?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. DNA methylation (the attachment of a methyl group to DNA) is a common signaling tool that cells use to lock genes in the "off" position. One example of an human disease that is affected by methylation is cancer. Cancer can occur when tumor suppressor genes are inappropriately turned off by methylation. Vilnius University (Higher Education teacher)

20

What is your opinion on Genetically Modified foods?      Emily Edelman, M.S.: I am a genetic counselor who coordinates multiple projects at a non-profit organization dedicated to providing education in genetics to healthcare providers. I work with other genetic counselors, scientists, physicians, nurses, physician assistants, bioethicists, patient advocates, and other health professionals. I have experience in providing genetic counseling to individuals with a family history of cancer, and other rare and common conditions. Genetically Modified (GM) foods and plants contain sections of DNA that have been altered through genetic engineering. GM plants are created to be more disease and pest-resistant, have a longer or improved production cycle, and in some cases, have improved nutritional content and even taste better! Personally, I think scientists should continue to explore GM plants and foods, but carefully and thoughtfully. They have tremendous potential to help countries where a larger number of people are malnourished, among other uses. McDowell Intermediate High School in PA (10th grade student)

21

What is genetic counseling?      Don Hadley, M.S., C.G.C.: I am currently researching the components of a genetic counseling session, including how people are informed of genetic disorders and how they make decisions regarding genetic testing. Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to a disease that is of concern to a person, couple or family. This process includes the following steps: collecting and interpreting the family and medical histories to assess the chance of disease occurring in that person or a family member; educating them about inheritance, the potential for genetic testing, ways the disease is treated or possibly prevented, research that is currently being conducted and resources which may help the family; and finally, counseling to promote informed choices and adaptation to the risk or condition. If you would like to learn more, try going to the National Society of Genetic Counselors' website (www.nsgc.org) Great question! McDowell Intermediate High School in PA (10th grade student)

22

Can we add human DNA to primates to give them speech?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. No. But scientists have introduced genes into cats to make the cat fluorescent. Somersworth High School in NH (10th grade student)

23

What is a rare disease that you come across often?      Michelle Snyder, M.S., C.G.C.: I am a genetic counselor who works for the Genetic and Rare Diseases (GARD) Information Center where I help people find useful information about genetic and rare diseases. GARD is funded by the National Human Genome Research Institute (NHGRI) and the NIH Office of Rare Diseases Research (ORDR). Trimethylaminuria (TMAU) is a rare disease that I come across often. People with this condition have an unusual body odor that smells like fish because they are not able to break down a chemical called trimethylamine. Trimethylamine is the compound that gives fish their fishy odor. The odor usually starts around puberty and is very hard to remove. Treatment usually involves changing a person's diet to remove foods that contain high levels of trimethylamine. McDowell Intermediate High School in PA (10th grade student)

24

What are the risks of changing the DNA to genetically modify a human fetus to certain traits?      Donna Krasnewich, M.D., Ph.D.: I am very knowledgeable about diseases resulting from inborn errors of metabolism. This is a very complex question from the perspective of technology, genetics but also from the ethical issues involved. Currently geneticist can test a fetus to see whether the fetus carries a change in their DNA that would cause symptoms of a genetic disorder. This can be done while the fetus is still in the womb between 11 and 16 weeks of age. This is called prenatal diagnosis. The test only tells you whether the fetus has DNA changes and does not put DNA into the fetus. At the 6-8 cell stage an embryo that is fertilized in vitro, or in a lab, can be analyzed to see if there are genetic changes before the fetus is implanted in the mother's uterus. Again, no DNA is put into the embryo. Right now, DNA is not being added or modified in either the embryonic or fetal stage although scientists are thinking of good strategies to change genes that have a mutation to alleviate a genetic disorder. This is still in the future. Obviously, there are many issues of genetic counseling and ethics that need to be discussed surrounding these genetic diagnostic techniques. Somersworth High School in NH (10th grade student)

25

Do plants and animals have different types of genes?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. Absolutely. The difference in the genes allow for all the differences that you see between the species. McDowell Intermediate High School in PA (10th grade student)

26

How can the biomedical community use genetic information to improve standards of patient care?      Emily Edelman, M.S.: I am a genetic counselor who coordinates multiple projects at a non-profit organization dedicated to providing education in genetics to healthcare providers. I work with other genetic counselors, scientists, physicians, nurses, physician assistants, bioethicists, patient advocates, and other health professionals. I have experience in providing genetic counseling to individuals with a family history of cancer, and other rare and common conditions. Great question! There are many exciting ways genomic medicine is currently being translated into improved patient care. Genetic analysis can identify individuals with genetic conditions for early treatment. Genetic information is also being used in some settings to predict what common conditions one might develop in his or her life, such as heart disease, diabetes, or cancer. A rapidly developing area of translational clinical genetics (translating genetic discovery to clinical care) is that of pharmacogenomics. We know that an individual's genetic make-up influences his or her response to a number of different medications. Through predictive DNA tests, doctors can pick the best drug for the individual, which will have improved benefit and reduced side effects. Your question about improving "standards of patient care" is really a public health question. You might be interested to check out the CDC Public Health Genomics website to learn more about the intersection of genetic medicine and public health. Somersworth High School in NH (12th grade student)

27

How can you breed out blindness in a working species?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. In theory, I think that you could. If we did that in humans, I think there are many ethical issues. Is it right to control others choices in having children? Peru High School in IN (11th grade student)

28

If you move a cancerous mass, why does cancer come back?      Don Hadley, M.S., C.G.C.: I am currently researching the components of a genetic counseling session, including how people are informed of genetic disorders and how they make decisions regarding genetic testing. That 's a great question and quite complicated to answer as there are different reasons why a cancer might come back. For example, some times there may be small, undetectable cancer cells that remain hidden and not removed. These cells may eventually grow and appear to come back. Other times, a person may have a genetic predisposition to developing certain types of cancers. In these cases, a person may have the same cancer develop more than once. Keep thinking! Peru High School in IN (9th grade student)

29

The majority of the males have heart disease in my family. Only one female has been known to have heart disease and pass. Why is this so?      Phyllis Frosst, Ph.D.: I am the Director of Collaborative Operations at the NIH center for translational therapeutics. Currently I work on projects such as the Therapeutics for Rare and Neglected Diseases (TRND) program. A question that's hard to answer. It's possible that there are modifying factors on the Y chromosome (which men have but not women), or it could be the effect of environment or lifestyle differences between the men and women in your family (diet, exercise, occupation) or any number of physiological differences that science is not yet able to differentiate. Peru High School in IN (12th grade student)

30

What do you enjoy most about your job?      Emily Edelman, M.S.: I am a genetic counselor who coordinates multiple projects at a non-profit organization dedicated to providing education in genetics to healthcare providers. I work with other genetic counselors, scientists, physicians, nurses, physician assistants, bioethicists, patient advocates, and other health professionals. I have experience in providing genetic counseling to individuals with a family history of cancer, and other rare and common conditions. I love my job! I am a genetic counselor by training, and I have a non-clinical job at a non-profit. I spend all day working on projects that aim to improve the way that physicians and nurses understand and apply genetics to their practice. I love that I have the opportunity to interact with many different types of health professionals and spend my day working on something that I feel is important for health and medicine! Riverside High School in PA (10th grade student)

31

What is the function of the spindle?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. The spindle is necessary during mitosis, or cell division, these fibers pull apart the chromosomes into the two resulting cells. Peru High School in IN (9th grade student)

32

Could you clone humans. ? If so, is it safe. ?      Emily Edelman, M.S.: I am a genetic counselor who coordinates multiple projects at a non-profit organization dedicated to providing education in genetics to healthcare providers. I work with other genetic counselors, scientists, physicians, nurses, physician assistants, bioethicists, patient advocates, and other health professionals. I have experience in providing genetic counseling to individuals with a family history of cancer, and other rare and common conditions. Scientists have cloned a number of organisms, including some mammals. No one, however, has cloned a human being. There have been many advisory groups at the international level who have assembled to discuss the ethical implications of human cloning. Identical twins, by the way, are naturally occurring clones. Peru High School in IN (9th grade student)

33

What will be the most important genetic discovery in the next 10 years?      Donna Krasnewich, M.D., Ph.D.: I am very knowledgeable about diseases resulting from inborn errors of metabolism. Wow, this is a question for all of our imaginations. The first thing that came to mind is the complex problem of how our genotype defines our phenotype (phenotype can be many things like how we look, what diseases we are at risk for, how we grow). It is very clear that most phenotypic traits are coded by many genes working together, not just one gene. How these genes work together to define "complex traits" is a very difficult problem on the minds of many geneticists from the clinical experts to the basic scientists that study genetics. Figuring out how a group of genes work together to cause common disorders, common traits, rare disorders and risk for disease will take us to the next level of understanding the genome sequence. McDowell Intermediate High School in PA (10th grade teacher)

34

In my family there have been cases of breast cancer the last 1 or 2 generations. Could I be at risk for breast cancer?      Michelle Snyder, M.S., C.G.C.: I am a genetic counselor who works for the Genetic and Rare Diseases (GARD) Information Center where I help people find useful information about genetic and rare diseases. GARD is funded by the National Human Genome Research Institute (NHGRI) and the NIH Office of Rare Diseases Research (ORDR). Breast cancer is more likely to be hereditary when it occurs in multiple family members at an early age (usually before age 50). Also, your risk may be increased if a family member has had two or more primary cancers, or if a male has had breast cancer. A cancer genetic counselor can go over your family history and talk to you about your risk for breast cancer. Visit www.nsgc.org to find a genetic counselor in your area. Peru High School in IN (9th grade student)

35

If you want to do a personal scientific experiment in a lab, in which you work, would you be able to do it for no cost?      Emily Edelman, M.S.: I am a genetic counselor who coordinates multiple projects at a non-profit organization dedicated to providing education in genetics to healthcare providers. I work with other genetic counselors, scientists, physicians, nurses, physician assistants, bioethicists, patient advocates, and other health professionals. I have experience in providing genetic counseling to individuals with a family history of cancer, and other rare and common conditions. Interesting question. No, not for me. I do not work in a lab, I work in an office where we develop educational programs and clinical tools for health care providers. There are many geneticists that DO work in laboratories where technically, one would be able to perform experiments of interest by using the resources at the lab. Ethically, researchers do not begin an experiment without careful review of the costs and benefits. The ingredients and chemicals used in DNA experiments are not cheap. One of the excellent benefits of becoming a genetic researcher with a PhD is that you have the opportunity to direct your own research, so you perform experiments of interest to you every day! Riverside High School in PA (10th grade student)

36

Can you examine DNA and tell if a person has a chance of getting a type of genetic disease, such as cancer, or not?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. Yes, absolutely. When doctors and scientists know that a genetic difference is associated with higher risk of getting a disease, then we can test for it and provide the information to a patient. The difficulty is figuring out that the genetic difference is important. That's what researchers spend so much time and effort studying. Brownsville Area High School in PA (9th grade student)

37

When did we start research into stem cells?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. I have to confess, that I am not totally sure, but I think it was in the 1960s. Peru High School in IN (9th grade student)

38

What is 2q37.3 deletion?      Don Hadley, M.S., C.G.C.: I am currently researching the components of a genetic counseling session, including how people are informed of genetic disorders and how they make decisions regarding genetic testing. 2q37.3 deletion refers to a condition that results when a person is missing a piece from the "long arm" of chromosome number 2. This person is likely to be missing several genes on that chromosome which may affect their health and wellbeing. This can occur as the result of a new change in only their DNA or may be inherited. Try finding out more from this web-site: http://www.chromodisorder.org/CDO/ McDowell Intermediate High School in PA (10th grade student)

39

How did you become interested in the job you are doing?      Emily Edelman, M.S.: I am a genetic counselor who coordinates multiple projects at a non-profit organization dedicated to providing education in genetics to healthcare providers. I work with other genetic counselors, scientists, physicians, nurses, physician assistants, bioethicists, patient advocates, and other health professionals. I have experience in providing genetic counseling to individuals with a family history of cancer, and other rare and common conditions. I love my job! I am a genetic counselor by training, and I currently have a non-clinical job at a non-profit. I became interested in genetic counseling in high school, because I had an amazing biology teacher who made genetics fun and interesting. I also knew I wanted to work with people, not in a lab, and genetic counseling is the perfect intersection of those two interests. In my current job, I spend all day working on projects that aim to improve the way that physicians and nurses understand and apply genetics to their practice. I became interested in this educational work because I feel it is very important to improve health care providers understanding of genetic medicine to improve patient care. Riverside High School in PA (10th grade student)

40

Where do the different cells and tissues your body come from?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. All the information for building our tissues and cells come from the information encoded in our DNA. We start out and a single cell and though division of the cell and subsequent differentiation (according to the information in the DNA) out cells and tissues are formed. Peru High School in IN (9th grade student)

41

What did the Human Genome Project accomplish?      Phyllis Frosst, Ph.D.: I am the Director of Collaborative Operations at the NIH center for translational therapeutics. Currently I work on projects such as the Therapeutics for Rare and Neglected Diseases (TRND) program. A lot! The Human Genome Project revolutionized the way that scientists identify the genetic causes of disease, allowing progress in a tiny fraction of the time this took in pre-Genome days. The HGP allowed for amazing comparison between different species' genomes, which help us understand what the conserved and key regions are. The HGP is beginning to dramatically affect the way we prescribe drugs, letting us predict who will have side effects and who will benefit from one medicine versus another. It's been a giant leap forward for humankind. McDowell Intermediate High School in PA (10th grade student)

42

How do you feel about what you do as a scientist?      Emily Edelman, M.S.: I am a genetic counselor who coordinates multiple projects at a non-profit organization dedicated to providing education in genetics to healthcare providers. I work with other genetic counselors, scientists, physicians, nurses, physician assistants, bioethicists, patient advocates, and other health professionals. I have experience in providing genetic counseling to individuals with a family history of cancer, and other rare and common conditions. I love my job, and I love working in genetics. I am a genetic counselor by training and in my current job, I spend all day working on projects that aim to improve the way that physicians and nurses understand and apply genetics to their practice. I am not a scientist like many of the other geneticists on this panel, who perform lab research. I do, however, apply the principles of educational theory and communication to my work, which is a science in its own right. Riverside High School in PA (10th grade student)

43

Are there any disease that sex-linked from the father?      Donna Krasnewich, M.D., Ph.D.: I am very knowledgeable about diseases resulting from inborn errors of metabolism. This question made me go to a great website called Online Mendelian Inheritance in Man (www.omim.com) . When I searched for Y-linked disorders there was really no obvious answer. Remember that if a changed gene is on the father's Y-chromosome it will always be passed to his son because the mother does not have a Y-chromosome. Right now, one of the genes that show up on OMIM on the Y chromosome is a gene involved in the production of sperm. If this gene is changed, men may not make sperm thus cannot reproduce. It is possible there is an "intermediate phenotype" which means that a man with a change in this gene will make fewer sperm thus may have a son who will inherit this gene and perhaps the trait. Check out OMIM and see whether there are other answers. Peru High School in IN (12th grade student)

44

Could we genetically engineer humans with animal characteristics in the next 10 years?      Phyllis Frosst, Ph.D.: I am the Director of Collaborative Operations at the NIH center for translational therapeutics. Currently I work on projects such as the Therapeutics for Rare and Neglected Diseases (TRND) program. Technically, I think this could possibly be feasible, but the question is less "can we" than "should we". It's up to society (that's all of us) to work with scientists and consider what we think are appropriate uses of technology, and what are options that we should choose not to pursue. Williamsburg Middle School in VA (7th grade student)

45

Will genetically modifying a human be viable in the near future?      Michelle Snyder, M.S., C.G.C.: I am a genetic counselor who works for the Genetic and Rare Diseases (GARD) Information Center where I help people find useful information about genetic and rare diseases. GARD is funded by the National Human Genome Research Institute (NHGRI) and the NIH Office of Rare Diseases Research (ORDR). Gene therapy is a technique for correcting defective genes responsible for disease development. Researchers are currently studying how to correct faulty genes, but gene therapy has not proven very successful in clinical trials. There are many technical obstacles to overcome, but hopefully more progress will be made in the coming years. Williamsburg Middle School in VA (7th grade student)

46

Do you think cloning will be apart of our future in about 50-70 years? Why or Why not?      Emily Edelman, M.S.: I am a genetic counselor who coordinates multiple projects at a non-profit organization dedicated to providing education in genetics to healthcare providers. I work with other genetic counselors, scientists, physicians, nurses, physician assistants, bioethicists, patient advocates, and other health professionals. I have experience in providing genetic counseling to individuals with a family history of cancer, and other rare and common conditions. Cloning involves producing a genetically identical copy of another living organism. Scientists have cloned genes, cells, and sheep. However, scientists have not successfully cloned a human being. There have been many advisory groups at the international level who have assembled to discuss the ethical implications of human cloning. We need to understand and address these ethical issues before considering human cloning. Identical twins, by the way, are naturally occurring clones. Brownsville Area High School in PA (9th grade student)

47

How many total different traits are coded by DNA itself?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. Well, I don't have a specific count, but the answer is: all of them. Brownsville Area High School in PA (9th grade student)

49

In the future, will we be able to change the DNA to affect the features or looks of our childern?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. In theory, yes. Even sooner, we will probably be abel to screen embryos, made though in vitro fertilization to pick the one with the traits we want. The question is, though...do we want to do that? It's one thing to pick an embryo that, say, doesn't have a disease. But should we be able to pick whether or not the embryo will have brown hair? Peru High School in IN (9th grade student)

50

Is there a cure for Duchenne's Muscular Dystrophy?      Donna Krasnewich, M.D., Ph.D.: I am very knowledgeable about diseases resulting from inborn errors of metabolism. Right now there is not a cure for Duchenne's Muscular Dystrophy. There are, however, many, many groups working on different strategies. For a nice review of this check out GeneReviews on Duchenne's at http://www.ncbi.nlm.nih.gov/books/NBK1119/. THis is a review written by an expert in this disorder and if you scroll to the bottom you will see therapies under investigation. Mandarin High School in FL (9th grade student)

51

Do you think there are things that scientists are hiding from us? Things that could change the future?      Emily Edelman, M.S.: I am a genetic counselor who coordinates multiple projects at a non-profit organization dedicated to providing education in genetics to healthcare providers. I work with other genetic counselors, scientists, physicians, nurses, physician assistants, bioethicists, patient advocates, and other health professionals. I have experience in providing genetic counseling to individuals with a family history of cancer, and other rare and common conditions. Science is about making discoveries to improve understanding of health and disease, and to improve health. We all want to share discoveries to continue to advance health for the nation. So, no, I do not think scientists are keeping certain discoveries from the public. Every single research project in the United States that involves humans or animals is supervised by a panel of ethical experts, called the Institutional Review Board, or IRB. The goal of the IRB is to protect the people or animals involved in research to make sure there is no harm. Brownsville Area High School in PA (9th grade student)

52

How are genes related to ALS?      Don Hadley, M.S., C.G.C.: I am currently researching the components of a genetic counseling session, including how people are informed of genetic disorders and how they make decisions regarding genetic testing. While, I don't think we know the complete answer to your question, we do know some. For example, in most cases, ALS is not inherited, in other words, it does NOT appear to be the result of "genetics" alone; the symptoms may result from a combination of factors, some genetic and some environmental. In a small percentage of people who have ALS, there is a strong family history of others within their family who also have ALS; in those families the genetic contributions may play a more significant role. If you would like to learn more, try going to http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001708/. Great question! Hutson School in IN (10th grade student)

53

Do you see a need for students to study DNA and biotechnology?      Phyllis Frosst, Ph.D.: I am the Director of Collaborative Operations at the NIH center for translational therapeutics. Currently I work on projects such as the Therapeutics for Rare and Neglected Diseases (TRND) program. I do indeed, even if a career in science is not in your future. It's up to all of us to think through how science should be used in society and in medicine, and we cant make an informed decision if we cant understand the issues. Think about Stem Cells for example, it's not just cell biologists who should be thinking about the laws that regulate their use. Brownsville Area High School in PA (teacher)

54

We watched the movie Gattica in our science class. Do you think this could actually happen in the future?      Michelle Snyder, M.S., C.G.C.: I am a genetic counselor who works for the Genetic and Rare Diseases (GARD) Information Center where I help people find useful information about genetic and rare diseases. GARD is funded by the National Human Genome Research Institute (NHGRI) and the NIH Office of Rare Diseases Research (ORDR). I think GATTICA is a really interesting movie, but much of what happens is very unrealistic. However, one part of the movie that might actually become a reality is learning everything about a person's DNA at birth. With the advancement of genome sequencing technology, it may soon be possible to completely sequence a newborn's DNA as part of the newborn screening test. Williamsburg Middle School in VA (7th grade student)

55

What is a must read book for geneticists?      Phyllis Frosst, Ph.D.: I am the Director of Collaborative Operations at the NIH center for translational therapeutics. Currently I work on projects such as the Therapeutics for Rare and Neglected Diseases (TRND) program. The immortal life of Henrietta Lacks: http://rebeccaskloot.com/the-immortal-life/ Essential reading for any scientist. Vilnius University (Higher Education teacher)

56

Is there a book that I can read to find out more about DNA?      Phyllis Frosst, Ph.D.: I am the Director of Collaborative Operations at the NIH center for translational therapeutics. Currently I work on projects such as the Therapeutics for Rare and Neglected Diseases (TRND) program. There are many, and you school or local librarian can help you select one or a few! Brownsville Area High School in PA (9th grade student)

58

How do you get testicular cancer?      Donna Krasnewich, M.D., Ph.D.: I am very knowledgeable about diseases resulting from inborn errors of metabolism. Testicular cancer is a very complex disease. As you know, cancer is the uncontrolled growth of cells in the body that invade organs and blood. There are familial forms of testicular cancer, in other words, changes in genes that increase the risk of a person having testicular cancer that are passed down through generations. Scientists and clinicians also think that the risk of testicular cancer may be increased by exposure to certain chemicals. The genetics of testicular cancer is being studied and there is much to learn. Peru High School in IN (student)

59

My sister has autism and what would be the possible chance that I would have a child with a disability like her.      Emily Edelman, M.S.: I am a genetic counselor who coordinates multiple projects at a non-profit organization dedicated to providing education in genetics to healthcare providers. I work with other genetic counselors, scientists, physicians, nurses, physician assistants, bioethicists, patient advocates, and other health professionals. I have experience in providing genetic counseling to individuals with a family history of cancer, and other rare and common conditions. This is a great question. Autism is a complex condition, and researchers are actively investigating the genetic and non-genetic factors that play a role in the development of autism. We know that there are genetic links to autism, but having a sibling with autism does not necessarily mean you will have a child with autism. The risk for siblings of a personal with autism to have autism themselves is about 2-8%, so the risk of you having a child with autism is probably much less. By the time you are ready to have children, we may have more information for you about the causes of autism and risks to family members. You may want to meet with a genetic counselor to further discuss your family history and the different conditions that may be inherited when you are ready to start your own family. Riverside High School in PA (10th grade student)

60

Can we mix DNA from two different species and make a new species?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. Well, we can absolutely put DNA from one species into another. We do all the time to create new plant crops (think genetically modified tomatoes). We create new kinds of bacteria and other microorganisms in the lab in order to study them. Scientists have even created a new bacteria from scratch. And there are many other examples. So, I haven't quite answered your question about new species, but I think that it's important to understand the manipulation that can be done, even if new species aren't created. Somersworth High School in NH (10th grade student)

61

Why is lupus so hard to determine?      Donna Krasnewich, M.D., Ph.D.: I am very knowledgeable about diseases resulting from inborn errors of metabolism. The clinical presentation of lupus can be very different in different people. Also the symptoms of lupus can come and go in a person making it hard for an individual and their physician to really pin down what is going on. Because of the intermittent clinical course and the variability in the presentation diagnosis can sometimes take a long time even with an experience physician and a patient who is a great communicator. Peru High School in IN (12th grade student)

62

Can stem cells be used for medicine?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. That is what researchers are working on. Since stem cells have the ability to become different types of cells and tissue, researcher hope to be able to use them to treat disease. Peru High School in IN (9th grade student)

63

Is an animal's DNA anything similar to a human's DNA? If so, how?      Michelle Snyder, M.S., C.G.C.: I am a genetic counselor who works for the Genetic and Rare Diseases (GARD) Information Center where I help people find useful information about genetic and rare diseases. GARD is funded by the National Human Genome Research Institute (NHGRI) and the NIH Office of Rare Diseases Research (ORDR). The DNA of humans and mammals is very similar. Most mammals (including humans) have about the same number of nucleotides in their genomes, about 3 billion. However, the way the DNA is grouped into chromosomes varies. For example, humans have 46 chromosomes, cats have 38 chromosomes, and dogs have 78 chromosomes. Brownsville Area High School in PA (9th grade student)

64

DNA is double stranded. When one strand codes gene, what does the other strand code for? Is it "meaningless"?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. Genes can occur on both strands of the DNA. However, when a gene is one strand, the opposite strand just has complementary DNA. KMU (12th grade student)

65

Why do cancer cells not respond to the signals that control their growth rate?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. Basically, something has gone wrong. The molecular signatures have be disrupted through a DNA mutation. Peru High School in IN (9th grade student)

66

Retinoblastoma is caused by the missing RB1 gene. Is there anyway to inject this missing gene into the patients that are diagnosed with Retinoblastoma?      Don Hadley, M.S., C.G.C.: I am currently researching the components of a genetic counseling session, including how people are informed of genetic disorders and how they make decisions regarding genetic testing. Your question points to a field of research called gene therapy, which attempts to stimulate the body to work correctly despite the missing instructions within the DNA. A lot of work is being done with gene therapy especially for diseases like Severe Combined Immune Deficiency. McDowell Intermediate High School in PA (10th grade student)

67

Could Gene Therapy used to cure Gigantism?      Emily Edelman, M.S.: I am a genetic counselor who coordinates multiple projects at a non-profit organization dedicated to providing education in genetics to healthcare providers. I work with other genetic counselors, scientists, physicians, nurses, physician assistants, bioethicists, patient advocates, and other health professionals. I have experience in providing genetic counseling to individuals with a family history of cancer, and other rare and common conditions. Interesting question! There are different causes to Gigantism, many of which are problems where the body does not produce the normal amount of hormones that are responsible for growth and body size. Sometimes too much growth hormone can be caused by a small brain tumor in an organ called the pituitary. Williamsburg Middle School in VA (7th grade student)

68

Why is DNA so important to the human body other than it holding heredity and other important things?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. Our DNA has the information needed to create us. If the information wasn't there, we wouldn't develop the way we do. While the environment absolutely effects things, DNA has all the starting information that tells our cells to do what they do and our tissues to perform the way they do. Brownsville Area High School in PA (9th grade student)

69

What type of education do you need to pursue to get an occupation in your field & other fields dealing with genetics? Classes in highschool etc. ?      Phyllis Frosst, Ph.D.: I am the Director of Collaborative Operations at the NIH center for translational therapeutics. Currently I work on projects such as the Therapeutics for Rare and Neglected Diseases (TRND) program. It all depends what you want to do in genetics. Many laboratory technicians have a B.Sc. degree, some research scientists and Genetic counselors have a Master's degree and most research scientists have a PhD or an MD. To be a medical geneticist and treat patients, requires an MD. It wont surprise you to hear that Biology is a must-take, but also other sciences like chemistry, biochemistry, physics, math and computer science. It's great to get a well rounded education as well so classes in writing, philosophy, psychology and sociology are a great addition. Brownsville Area High School in PA (9th grade student)

70

Could you combine animal cells/genes/DNA to a human, to cause the human to obtain or have animalistic characteristics?      Pam Schwartzberg, M.D., Ph.D.: I currently study mouse models of primary immunodeficiencies (genetic diseases that impair the ability of the immune system to fight infections) and how specific disorders affect responses to infectious diseases. In the laboratory, we do "add" genes to different organisms. The most simple form of this is done in bacteria where we can have the bacteria make proteins from different organisms. However, this solely is used to make a lot of a particular protein. We also do the same "adding" or "transfecting" DNA into animal cells so they can make a lot of a given protein so we can study its functions. In more complicated experiments, we will "add" a gene to a mouse embryo to make a "transgenic mouse". Again this is generally done to study a protein's function. In some cases, this can make the protein function like it does in human or another species. But in humans, this would only be considered and tried to correct a genetic defect (gene therapy) and this would be generally done with a human gene. But all it would do is change one protein, ie one of the small building blocks of the body to help someone with a genetic disease. Peru High School in IN (9th grade student)

72

How close are scientists to finding a cure for cancer?      Emily Edelman, M.S.: I am a genetic counselor who coordinates multiple projects at a non-profit organization dedicated to providing education in genetics to healthcare providers. I work with other genetic counselors, scientists, physicians, nurses, physician assistants, bioethicists, patient advocates, and other health professionals. I have experience in providing genetic counseling to individuals with a family history of cancer, and other rare and common conditions. Cancer is actually many different diseases, but most of them are complex diseases, caused by a combination of genetic and environmental factors. The treatments for cancer are rapidly and significantly improving. Treatments have come a long way because of the greater understanding of the make-up of specific types of cancer, thanks to the Cancer Genome Project and other efforts. While there may not be a literal "cure" for cancer, it is likely that cancer therapies will continue to advance until cancer will be treated like a chronic condition that someone can live with, such as Diabetes. We are also better able to predict individuals who are at greater risk of developing cancer based on their family history. For these people, we can sometimes provide recommendations for preventive measures to take. Brownsville Area High School in PA (9th grade student)

73

Q: [ edit] How far away are we from using stem cells to treat diseases like alzheimer's?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. I don't have a good answer for you. I can't actually predict how the research will go. Scientists are working on using stem cells to treat a number of diseases. But, the nature of research is unpredictable; scientists just keep working until they can figure things out. Williamsburg Middle School in VA (7th grade student)

Now entering the chat is Corina Din-Lovinescu. She is a program analyst in the Office of Population Genomics Office at NHGRI.

75

Could you have the same human genes as another person, even if you are not related to them?      Donna Krasnewich, M.D., Ph.D.: I am very knowledgeable about diseases resulting from inborn errors of metabolism. No one had ever anticipated how many differences we would see in human genomes even between people who are related. This has actually made interpreting the human genome much more difficult than anyone had anticipated. With billions of base pairs defining our blueprint and changes that have been passed from our great, great, great, great great, great grandparents through all of those generations it seems impossible that the sequence of our genes will be the same as any other person. Yes, you really are unique!!! ENjoy DNA DAY!!!! Peru High School in IN (9th grade student)

76

In my family there have been several cases of breast cancer. For maybe the last two or three generations there haven't been any cases. Could it be that the cancer in my family ha died off?      Don Hadley, M.S., C.G.C.: I am currently researching the components of a genetic counseling session, including how people are informed of genetic disorders and how they make decisions regarding genetic testing. There are several possible explanations for this. Breast cancer can result from environmental exposures, genetic factors or a combination of the two. In any one family, a careful investigation of all of these factors should be conducted to explain the potential for cancer to occur in other family members. A specially trained team of professionals called a Cancer Genetics team would be the most appropriate to carefully answer your question. To find such a team, you could go to this web-site http://www.cancer.gov/cancertopics/genetics/directory to find such a team. Peru High School in IN (9th grade student)

77

I read in an article that geneticists have found the miniaturizing gene that produces toy dog breeds. My students were asking if it's possible for that gene to one day be used to produce other mini animals. I think some of my students would like to have the mini giraffe you see in the DirectTV commercials ; )      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. Well, in theory, it's possible that we could do this someday. We would have to find the relevant genes, understand the way they work, and be able to introduce them into different animals. All difficult things to do. Might be easier to breed the small traits, like they have done in dogs over the years. Although, since they are large and take longer to reproduce, it might be very hard to breed giraffes that way. Peru High School in IN (teacher)

78

How do you get slow metabolism??      Pam Schwartzberg, M.D., Ph.D.: I currently study mouse models of primary immunodeficiencies (genetic diseases that impair the ability of the immune system to fight infections) and how specific disorders affect responses to infectious diseases. You may be able to affect metabolism by exercise and what you eat. There are certainly genetic contributions to metabolic rates and some animals (and people) with mutations such as those affecting the hormone Leptin and its receptor have very slow metabolism. Williamsburg Middle School in VA (7th grade student)

79

Dr. Frosst-What is the biggest Punnett Square you have ever done? How long did it take?      Phyllis Frosst, Ph.D.: I am the Director of Collaborative Operations at the NIH center for translational therapeutics. Currently I work on projects such as the Therapeutics for Rare and Neglected Diseases (TRND) program. Yikes. It's been a long time since I did Punnett squares, probably since freshman year in college. I the best of my ability to recall, a 4x4 was the biggest. As to time? Probably about as long as most of my classmates! The Children's Home of Reading in PA (7th grade student)

80

Is getting breast cancer kind of the same concept as getting testicular cancer?      Don Hadley, M.S., C.G.C.: I am currently researching the components of a genetic counseling session, including how people are informed of genetic disorders and how they make decisions regarding genetic testing. Yes, despite them being different organs, they may share similar mechanisms or factors that cause the cancers to occur. Sometimes understanding what causes one form of cancer leads to advances in understanding other forms of cancer. Brownsville Area High School in PA (9th grade student)

81

For non-science students, why is learning about genetics, DNA, and DNA technology an important topic?      Michelle Snyder, M.S., C.G.C.: I am a genetic counselor who works for the Genetic and Rare Diseases (GARD) Information Center where I help people find useful information about genetic and rare diseases. GARD is funded by the National Human Genome Research Institute (NHGRI) and the NIH Office of Rare Diseases Research (ORDR). Using genetics can be helpful for learning about other subjects. For example, probabilities are used to determine a person's risk of inheriting a genetic disease. Also, writing about controversial genetic topics can be an interesting subject for students in English classes. Riverside High School in PA (10th grade teacher)

82

What is the most important thing for kids to know about DNA?      Pam Schwartzberg, M.D., Ph.D.: I currently study mouse models of primary immunodeficiencies (genetic diseases that impair the ability of the immune system to fight infections) and how specific disorders affect responses to infectious diseases. Depends on the age. DNA is the genetic material, ie it is the blueprint of information for making our bodies. DNA is a very long molecule made up of repeating units called nucleotides. The backbone of the nucleotides is the same, but the "bases" attached to the backbone can change. There are four different bases, (A,C,G,T) and that is where all the genetic information for making an organism resides. DNA is a long double helix and can be replicated so that we can pass on this information to every cell in the body and to our offspring. The Children's Home of Reading in PA (teacher)

83

What is the chemical make-up of DNA?      Pam Schwartzberg, M.D., Ph.D.: I currently study mouse models of primary immunodeficiencies (genetic diseases that impair the ability of the immune system to fight infections) and how specific disorders affect responses to infectious diseases. DNA is a very long molecule made up of repeating units called nucleotides. The backbone of the nucleotides is the same, but the "bases" attached to the backbone can change. There are four different bases, (A,C,G,T) and that is where all the genetic information for making an organism resides. The Children's Home of Reading in PA (10th grade student)

84

What are differences between copy number variations (CNV) and insertions/deletions (indels)?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. Indels are any variation in DNA that involves the insertion of bases or the deletion of bases. CNVs are large repetitive sequences that vary in number; in other words, insertions or deletions of more repeat sequences. Vilnius University (Higher Education teacher)

85

Why do identical twins get the same DNA, but fraternal twins do not?      Donna Krasnewich, M.D., Ph.D.: I am very knowledgeable about diseases resulting from inborn errors of metabolism. DNA from identical twins come from the fertilization of one egg (with its DNA) by one sperm (with its DNA). After this egg is fertilized it splits and at some point splits to become 2 fetuses which grow into identical twins. In fraternal twins, there are typically 2 eggs which are ovulated at the same time and fertilized by different sperm, so they have a different complement of DNA. Brownsville Area High School in PA (9th grade student)

86

Today is my birthday! I'm 19. How is DNA affected over time? How many good years do I have left?      Pam Schwartzberg, M.D., Ph.D.: I currently study mouse models of primary immunodeficiencies (genetic diseases that impair the ability of the immune system to fight infections) and how specific disorders affect responses to infectious diseases. If you treat your body well, you are likely to have many long years ahead of you. DNA does change over time. It can acquire mutations that can lead to cancer, so avoiding carcinogens such as cigarette smoke is a very good thing. The ends of your chromosomes, called telomeres, can also shorten over time. The Children's Home of Reading in PA (12th grade student)

87

Can you combine DNA of different species to produce a new species?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. I answered this earlier, but I will copy it again here: We can absolutely put DNA from one species into another. We do all the time to create new plant crops (think genetically modified tomatoes). We create new kinds of bacteria and other microorganisms in the lab in order to study them. Scientists have even created a new bacteria from scratch. And there are many other examples. So, I haven't quite answered your question about new species, but I think that it's important to understand the manipulation that can be done, even if new species aren't created. Mandarin High School in FL (9th grade student)

88

If people have been working on genes so long, why haven't we found a cure for all kinds of cancers?      Don Hadley, M.S., C.G.C.: I am currently researching the components of a genetic counseling session, including how people are informed of genetic disorders and how they make decisions regarding genetic testing. Unfortunately, it is a slow and complicated process that doesn't move as fast as any of us would like. We know how many people are counting on researchers to find cures or ways to prevent cancer, but it ultimately depends on funding, dedicate efforts and, sometimes a little luck. Peru High School in IN (student)

89

What is DNA?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. DNA is a very long molecule made up of repeating units called nucleotides. The backbone of the nucleotides is the same, but the "bases" attached to the backbone can change. There are four different bases, (A,C,G,T) and that is where all the genetic information for making an organism resides. Riverside High School in PA (10th grade student)

90

Do you have a cure for depression?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. Fortunately, there are many different medication on the market that can treat depression. In addition, working with a therapist produces good results, too. Peru High School in IN (9th grade student)

91

How close is our DNA from our nearest primate relative?      Emily Edelman, M.S.: I am a genetic counselor who coordinates multiple projects at a non-profit organization dedicated to providing education in genetics to healthcare providers. I work with other genetic counselors, scientists, physicians, nurses, physician assistants, bioethicists, patient advocates, and other health professionals. I have experience in providing genetic counseling to individuals with a family history of cancer, and other rare and common conditions. Interesting question! Humans and primates are closely related biologically. There have been a number of studies that have compared human and different primate genomes to determine what areas of the genome are different. These studies estimate that there is somewhere between 96% and 99% genetic similarity between humans and primates. The Children's Home of Reading in PA (10th grade student)

92

How are transgenic organisms useful to humans?      Pam Schwartzberg, M.D., Ph.D.: I currently study mouse models of primary immunodeficiencies (genetic diseases that impair the ability of the immune system to fight infections) and how specific disorders affect responses to infectious diseases. Transgenic organisms have provided a wealth of information about the function of genes and proteins they encode (and non-coding sequences). Probably the most common animal used for transgenesis is the mouse. Transgenic mice that overexpress certain proteins have provided insight into the role of genes in causing and promoting cancer. Transgenic mice that have been engineered to lack a protein or piece of DNA (knockout mice) have been instrumental in uncovering the function of genes involved in development and function of many organs and systems and the role they have in human disease. For example, knockouts have helped us understand why certain mutations cause the phenotypes of many genetic diseases. Peru High School in IN (9th grade student)

93

How accurate are paternity tests?      Pam Schwartzberg, M.D., Ph.D.: I currently study mouse models of primary immunodeficiencies (genetic diseases that impair the ability of the immune system to fight infections) and how specific disorders affect responses to infectious diseases. 99.9% accurate if done properly. Brownsville Area High School in PA (9th grade student)

94

How does the DNA of turtles differ from the DNA of that in a human?      Donna Krasnewich, M.D., Ph.D.: I am very knowledgeable about diseases resulting from inborn errors of metabolism. It has always been interesting the large areas of DNA are conserved or alike between many reptiles, mammals and humans. Probably because the genes they code are essential for very basic functions of life like cell metabolism. Genes that are different in humans and turtles, for example the genes that define a shell, may also evolve or change to take on a function that is related but visibly different. For example some of the genes that direct the formation of webbed feet in a duck also direct how our hands form embryologically. I am not certain whether the entire sequence of a particular species of turtle is known, although I suspect it is, comparisons of these types of genomes teach alot about human development. McDowell Intermediate High School in PA (10th grade student)

95

How did Rosalind Franklin suspend a single strand (or did she?) of DNA to photograph via X-ray diffraction?      Pam Schwartzberg, M.D., Ph.D.: I currently study mouse models of primary immunodeficiencies (genetic diseases that impair the ability of the immune system to fight infections) and how specific disorders affect responses to infectious diseases. She probably used DNA that was in a crystal for X-ray crystallography. The crystals hold the molecules in a stable structure so that the X-rays can be diffracted by the molecules and reveal the information to determine the structure. The Children's Home of Reading in PA (teacher)

96

How much is restriction fragment length polymorphism (RFLP) analysis used today? What technologies are replacing this?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. While RFLP analysis was essential to early genetic studies, it's not used that much today, except for some particular classic situations. Today, it is much more useful to analyze Single Nucleotide Polymorhisms (SNPS) or microsatellites (repetitive sequences) since they are very plentiful, well characterized and appropriate for today;s inexpensive DNA sequencing and genotyping technologies. . Francis Howell North High School in MO (12th grade student)

Now entering the chat is David Bodine. He currently investigates the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy.

98

Ms Wetterstrand-How did scientists first find out about DNA?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. I would date finding out about DNA back to Gregor Mendel's classic studies with pea plants back in the 1800s. He mapped out patterns of inheritance of traits in the plants. The Children's Home of Reading in PA (10th grade student)

99

Is it possible to clone a human being?      Donna Krasnewich, M.D., Ph.D.: I am very knowledgeable about diseases resulting from inborn errors of metabolism. There are many ethical and clinical issues that surround this complicated question. I would like to refer you to the wikipedia link http://en.wikipedia.org/wiki/Human_cloning that discusses this topic, including the section on discussions at the United Nations about International rules about cloning. Mandarin High School in FL (10th grade student)

100

Are there any new genetic diseases that have been recently discovered?      Pam Schwartzberg, M.D., Ph.D.: I currently study mouse models of primary immunodeficiencies (genetic diseases that impair the ability of the immune system to fight infections) and how specific disorders affect responses to infectious diseases. There are new genetic diseases that are being discovered all the time as people recognize that a disease is found in multiple family members. That is why family medical history is so important to obtain. And every week in scientific journals, you will see new diseases being described where the mutated gene or DNA sequence causing that disease has been discovered due to DNA sequencing. In my field, I can think of several new primary immunodeficiencies that have been discovered in the last two years. Moreover, we are finding that there are genetic contributions to diseases we think are due to environmental. McDowell Intermediate High School in PA (10th grade student)

101

Mr. Hadley- What sorts of genes are activated by age?      Don Hadley, M.S., C.G.C.: I am currently researching the components of a genetic counseling session, including how people are informed of genetic disorders and how they make decisions regarding genetic testing. This is a great question and one that is being actively investigated. We know that the very tips of the chromosomes (telomeres) get progressively smaller as a person ages. It is believed that this "shortening" of the telomeres is related to the aging process. A disorder known as Progeria has also provided tremendous insight into what causing aging. In this condition, people have a mutation in a gene called LMNA, which causes the very early onset of diseases found in the elderly. We hope knowing more about this disorder will help them and the rest of us. The Children's Home of Reading in PA (11th grade student)

102

As of now, we do not know wether or not cancer is genetic or caused by evironmental factors. If it is genetic is there anyway for us to do a non invasive test on a fetus to predetermine the infant's chance at developing cancer at a later date?      Emily Edelman, M.S.: I am a genetic counselor who coordinates multiple projects at a non-profit organization dedicated to providing education in genetics to healthcare providers. I work with other genetic counselors, scientists, physicians, nurses, physician assistants, bioethicists, patient advocates, and other health professionals. I have experience in providing genetic counseling to individuals with a family history of cancer, and other rare and common conditions. This is a question that includes multiple mini-questions! You are correct, most cancers are caused by a combination of genetic and non-genetic factors, and we do not fully understand how all of these factors play a role in cancer development just yet. However, there are some kinds of cancer that we do understand to be more strongly genetic. An example here would be breast cancer or ovarian cancer related to mutations in the BRCA1 or BRCA2 genes, known as Hereditary Breast and Ovarian Cancer syndrome. If one member of a couple has a known BRCA1 or BRCA2 mutation, it is technically possible to test an embryo or fetus for these mutations, but there are important ethical considerations related to such a decision. At this time, there are no NON-invasive options to screen for BRCA-related cancer syndromes, or risk of other cancers, in a fetus. Scientists are investigating non-invasive fetal diagnosis for other specific conditions, which will be clinically available in the next few years. Peru High School in IN (11th grade student)

103

How much of your DNA is similar to your parents?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. All of your DNA is similar to your parents. 50% comes from each one. So you are not identical to either one of yyour parents, but there is no DNA in you that did not come from one of them. Brownsville Area High School in PA (9th grade student)

Now entering the chat is Anne Madeo. She has an M.S in Human Genetics from the University of Michigan and currently working at the NIH as a genetic counselor.

105

What kind of DNA do you study at your job, human DNA? If so, how do you get the DNA?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. I study both mouse and human DNA. We extract DNA from mouse and human tissues, mostly blood. We use blood because it is relatively easy to get, the tissue regrows quickly and the procedure to get it is minimally invasive. Sometimes we extract DNA from human or mouse cells that grow in tissue culture. These cells do not involve taking anything from a living person or mouse and for a lot of purposes is exactly what we need. Brownsville Area High School in PA (9th grade student)

106

How does fertilization work in plants?      Pam Schwartzberg, M.D., Ph.D.: I currently study mouse models of primary immunodeficiencies (genetic diseases that impair the ability of the immune system to fight infections) and how specific disorders affect responses to infectious diseases. The pistil is the female part of the plant and the stamens are the male part. Pollen from the stamens needs to be transfered to the pistil where it will travel down the pollen tube to fertilize the ovules in the base of the pistil. Peru High School in IN (12th grade student)

107

Fibromyalgia is a chronic pain disease and to my knowledge there is no "cure" just medications to help ease the pain. Is there a cure being developed? And is it possible to be passed down in genes from generation to generation?      Anne Madeo, M.S.: I have an M.S.in Human Genetics from the University of Michigan and currently working at the NIH as a genetic counselor since 2000. ýShe is currently the Associate Director of the Johns Hopkins University/NHGRI Genetic Counseling Training Program. To the best of my knowledge, it remains a disease that is treated but there is no cure. It is difficult to develop a cure for a disease when the cause(s) haven't been identified. It is possible that there are genetic changes (mutations) that increase a person's susceptibility to fibromyalgia. If this were true, then those susceptibility genes could be inherited, but that doesn't necessarily mean that the disease will be passed from parent to child. Peru High School in IN (12th grade student)

108

In identical twins, the DNA is the same but the epigenome acts differently. So if you were to clone a human, would the epigenome behave the same in the clone?      Pam Schwartzberg, M.D., Ph.D.: I currently study mouse models of primary immunodeficiencies (genetic diseases that impair the ability of the immune system to fight infections) and how specific disorders affect responses to infectious diseases. One would assume that epigenetic modifications could be different, just as in an identical twin (all hypothetical, of course). Peru High School in IN (12th grade student)

109

Why are most mammals diploid?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. Great question. I assume that you know that many insects for example are hapliod as well as some plants. Diploid organisms have an advantage that recessive mutations do not hurt the organisms. Because there can be heterozygosity, diploid organisms can carry a great deal of variation, allowing evolution to select the best traits for future generations. Vilnius University (Higher Education teacher)

110

What are some basic facts of dna?      Bruce Korf, M.D., Ph.D.: I am a medical geneticist and serve as chair of the Department of Genetics at the University of Alabama at Birmingham. My major area of focus is diagnosis and treatment of neurogenetic disorders, especially neurofibromatosis. Iým also involved in initiatives to integrate genetics and genomics into medicine. DNA is a very long molecule made up of repeating units called nucleotides. The backbone of the nucleotides is the same, but the "bases" attached to the backbone can change. There are four different bases, (A,C,G,T) and that is where all the genetic information for making an organism resides. Our genomes include about 3 billion bases, providing instructions to the cell to make some 20,000 different proteins. Bob in MS (8th grade student)

111

Two of my great aunts have gotten breast cancer not long after turning 60; one of my great uncles has died from lung cancer; my great grandpa did too (of course he smoked, but my uncle did not); and my great grandmother died from Alzheimers. Am I at a high risk for any of these?      Anne Madeo, M.S.: I have an M.S.in Human Genetics from the University of Michigan and currently working at the NIH as a genetic counselor since 2000. ýShe is currently the Associate Director of the Johns Hopkins University/NHGRI Genetic Counseling Training Program. We know that a family history of almost any disorder increases the likelihood that somebody else in the family will develop the disorder. But, as you also noted, we can all make lifestyle changes that will increase or decrease the likelihood of developing a disorder. So, for example, you might be more likely than another smoker to develop lung cancer if you smoked, because you have a relative who developed lung cancer after smoking. If you choose not to smoke, you can reduce the likelihood that you'll develop it. You can make choices that will keep you at a lower risk to develop any of those disorders, such as eating well, exercising and not smoking. Peru High School in IN (12th grade student)

112

Is it possible that almost every single person is related to one another in some sort of way?      Pam Schwartzberg, M.D., Ph.D.: I currently study mouse models of primary immunodeficiencies (genetic diseases that impair the ability of the immune system to fight infections) and how specific disorders affect responses to infectious diseases. One way to think of that is that the DNA of individuals is 99.9% identical to other humans. So we are pretty highly related! Peru High School in IN (11th grade student)

113

If you have a disorder in your DNA could you take it out and repair it?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. Maybe someday. Right now we have begun to use gene therapy to "fix" genetic disorders. This usually is by adding a new gene to cells to replace one that is not functioning properly. Examples of this include gene therapy that has restored vision in blind children, and immune systems in kids who were born without the ability to fight infections. However, in the future we may be able to fix genes in cells. There is a very promising new technology that can repair genes, and I have seem very promising results in animals. Bednarcik Junior High School in IL (8th grade student)

114

What is a developmental delay? Are Parkinson's disease or schizophrenia considered a developmental delay?      Anne Madeo, M.S.: I have an M.S.in Human Genetics from the University of Michigan and currently working at the NIH as a genetic counselor since 2000. ýShe is currently the Associate Director of the Johns Hopkins University/NHGRI Genetic Counseling Training Program. A developmental delay is when somebody meets their developmental milestones (whether in gross motor skills, like walking, fine motor skills, like holding a pencil, cognitive skills, like learning to read) after their typically developing peers. The term developmental delay is usually reserved for children, because the term delay suggests that the individual might 'catch up' with his/her typically developing peers. Individuals who develop Parkinson's disease and schizophrenia usually developed typically until the onset of the disease. Thus, they are not considered a developmental delay. Vilnius University (Higher Education teacher)

Now entering the chat is Elliott Margulies. He uses new DNA sequencing technologies to sequence and analyze human genomes and incorporates information about comparatives genomics to learn how differences between human genomes relate to human health.

116

Two words: Benjamin Button. Could one person really age backwards? If so, how long would this person expect to live?      Anne Madeo, M.S.: I have an M.S.in Human Genetics from the University of Michigan and currently working at the NIH as a genetic counselor since 2000. ýShe is currently the Associate Director of the Johns Hopkins University/NHGRI Genetic Counseling Training Program. No, a person couldn't really age backwards. That's what makes movies fun--they can explore topics that aren't really possible! Peru High School in IN (12th grade student)

117

Are traits that are considered "attractive" or "beautiful", in one specific person, genetically influenced?      Vence Bonham, J.D.: I currently research the ethical, legal, social and policy implications of genomic discoveries, particularly health professionals' and lay persons' understanding of race, ethnicity and genetics. Beauty is in the eye of the beholder, however traits like hair texture, pigment, and eye shape are all genetically influenced. Peru High School in IN (12th grade student)

118

What is the difference between polymorphisms and heteromorphisms?      Pam Schwartzberg, M.D., Ph.D.: I currently study mouse models of primary immunodeficiencies (genetic diseases that impair the ability of the immune system to fight infections) and how specific disorders affect responses to infectious diseases. A polymorphism is a variation in DNA sequence. It can be associated with a change in phenotype or can be silent. Heteromorphism means a change in form. Chromosome heteromorphisms can refer to normal variations in the appearance of chromosomes. Vilnius University (Higher Education teacher)

119

Which chromosomes are associated with bipolar disorder?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. Good question. There are a lot of people studying that question and it is one of the oldest in human genetics. What is clear is that bipolar disorders are complex disorders, meaning that many genes located on multiple chromosomes are involved. Some patients may have 10 genes that contribute to the disorder located on 6 chromosomes, while other have 8 variations on 6 chromosomes with only 1 or 2 in common. Lexington High School in SC (10th grade student)

Now entering the chat is Vence Bonham. He currently researches the ethical, legal, social and policy implications of genomic discoveries, particularly health professionals' and lay persons' understanding of race, ethnicity and genetics.

121

I watched a movie where scientists tagged a gene for spots on the wings of flies with a glowing molecule. In the future, can we tag people with glowing molecules and have parts of their body, like their hair, glow?      Pam Schwartzberg, M.D., Ph.D.: I currently study mouse models of primary immunodeficiencies (genetic diseases that impair the ability of the immune system to fight infections) and how specific disorders affect responses to infectious diseases. We can add a gene that encodes for a fluorescent protein (such as green fluorescent protein from jellyfish. A Nobel prize was awarded for its discovery and use.) We often fuse the gene encoding this protein to other genes to see where a protein is localized. Or we can fuse the gene to the promoter of another gene to follow gene regulation. Genes encoding fluorescent proteins are frequently used in transgenic mice for this purpose (to follow expression of different genes). So we can get mice that have green fluorescent blood cells or skin. But this is in animals and cell lines. Peru High School in IN (12th grade student)

122

What education do you need to become a geneticist?      Corina Din-Lovinescu: I am a program analyst in the Office of Population Genomics Office at NHGRI. The most important thing is to get a good broad education in biology and science in college. Then I would focus on molecular biology and molecular genetics. Molecular biology is key, as is a good education in biology. Riverside High School in PA (10th grade student)

123

Are there any genes for will power? Is will power is an epigenomic phenomena?      Elliott Margulies, Ph.D.: Now entering the chat is Elliott Margulies. He uses new DNA sequencing technologies to sequence and analyze human genomes and incorporates information about comparatives genomics to learn how differences between human genomes relate to human health. We still have a tremendous amount to learn about the genes in our genome. However, your genes only go so far in determining who you are. It is very important to recognize the concept of "free will" and the fact that you control your destiny, not your genes! University of Molecular biology and bioinformatics (Higher Education )

124

What education do you need to become a geneticist?      Corina Din-Lovinescu: I am a program analyst in the Office of Population Genomics Office at NHGRI. Most geneticists have a PhD in genetics or a field related to genetics, such as molecular biology, cellular biology, or epidemiology. Other geneticists may have a medical degree, such as an MD, or a master's degree in a field such as genetic counseling. To sum up, there are several different degrees that you could obtain to work in he field of genetics. Riverside High School in PA (10th grade student)

125

Using the "Seven Daughters of Eve" Theory, because all humans descend from one shouldn't the incidents of genetic disease caused by inbreeding be higher?      Anne Madeo, M.S.: I have an M.S.in Human Genetics from the University of Michigan and currently working at the NIH as a genetic counselor since 2000. ýShe is currently the Associate Director of the Johns Hopkins University/NHGRI Genetic Counseling Training Program. If you believe that the "Seven Daughters of Eve" theory is true, it might seem that there would be more problems from inbreeding. Part of what keeps that from happening is that mutations happen in all of our DNA, both mitochondrial DNA and nuclear DNA. These mutations are the reasons why we're not identical--as species have evolved, mutations that increase the likelihood that an individual survives are more likely to be passed on. We're all the result of a mixture of lots of different mutations that are different from the mutations that the seven daughters of Eve had. Peru High School in IN (12th grade student)

126

Can DNA form into other shapes besides a double-helix?      Erica Hirsch, M.S.: I started my career working in a biochemical genetics laboratory in New Orleans, where I gained knowledge of metabolic disorders. I then attended Mt. Sinai School of Medicine in New York, where I earned my Masters in Genetic Counseling. I worked as a prenatal genetic counselor for a few years helping couples whose pregnancies were considered to be high risk. That's a great question. Technically, DNA can form (or be formed) into other shapes, but the double-helix structure makes it possible for each DNA strand to be precisely copied. These copies, which contain the same genetic information as the original DNA strand, can then be passed along to an organism's offspring. There has been evidence that on rare occasions, parts of the helix may take on an alternate shape in order to do it's job. C.L. Parnters in WV (7th grade student)

127

Why did we want to decode the human genome?      Pam Schwartzberg, M.D., Ph.D.: I currently study mouse models of primary immunodeficiencies (genetic diseases that impair the ability of the immune system to fight infections) and how specific disorders affect responses to infectious diseases. The most important achievement of the human genome project- which was finished ahead of schedule and under budget - was sequencing the DNA that makes up the human genome. While the project itself is officially over, we are now engaged in the really exciting -- and even more important -- work of figuring out how the genome functions and how it affects our health. Knowing the human genome sequence allows us to discover the many alterations that are associated with disease and health. Peru High School in IN (9th grade student)

128

What does James Watson do nowadays? Is he still doing research or enjoying retirement?      Vence Bonham, J.D.: I currently research the ethical, legal, social and policy implications of genomic discoveries, particularly health professionals' and lay persons' understanding of race, ethnicity and genetics. Dr. Watson recently participated in the NHGRI symposium "Charting A Course for Genomic Medicine" (www.genome.gov/27543551). To learn more about what Dr. Watson is doing go to http://www.cshl.edu/gradschool/Non-Research-Faculty/james-d-watson ). Riverside High School in PA (10th grade student)

129

What is a basic difference between gene knockout and gene silencing?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. Good question. When we talk about a gene knockout, we are talking about a modification of DNA that usually removes all or part of a gene. We do this deliberately and can control which gene we are targeting. We usually do this in mouse cells or cells that grow in culture. Gene silencing is a natural process that we are beginning to understand, but really cannot control very well. If you think about it you should not express digestive enzymes anywhere except in the stomach or intestines. In blood or brain cells, these genes are silenced. Likewise the hemoglobin genes are expressed only in red blood cells are are silent on other cells. There is also gene knockdowns. This too is an experimental tool, where we can target a specific RNA for destruction, lowering the level of the protein in cells. This allows us to study the effects of a specific gene without going to all the work in doing a complete knockout. University of Molecular biology and bioinformatics (Higher Education )

130

When humans age, the cells stop dividing and start to die. Radiation causes uncontrolable growth in cells. Can we use low amounts of radiation to keep cells growing for longer life in humans?      Pam Schwartzberg, M.D., Ph.D.: I currently study mouse models of primary immunodeficiencies (genetic diseases that impair the ability of the immune system to fight infections) and how specific disorders affect responses to infectious diseases. Radiation leads to breaks in DNA and mutations. This can lead to uncontrollable growth because it causes mutations that deregulate cell growth. But proper control of cell growth is critical to prevent cancer and other disorders, so it is better to avoid induction of mutations. Peru High School in IN (9th grade student)

131

Would it be possible to genetically modify animal cells to make them photosynthetic?      Lauren Doyle, M.S.: I am currently split between prenatal (clinical and research), neurology and cancer clinics, so I see a broad base of patients on a weekly basis. In addition, I have completed a number of lectures and in-classroom activities about basic genetics to local schools and for other health professionals. While very little in science is considered impossible, it seems rather unlikely that it would possible to essentially convert an animal cell into a plant cell. Since animal cells are designed to function differently than plant cells, one would have to examine all of the ways plant cell components (cell walls, organelles, etc) interact to allow for photosynthesis (it would not be as easy as inserting chloroplasts and potentially removing mitochondria). Francis Howell North High School in MO (12th grade student)

132

I'm interested in a job like yours. What educational and occupational path did you take to get to this job?      Anne Madeo, M.S.: I have an M.S.in Human Genetics from the University of Michigan and currently working at the NIH as a genetic counselor since 2000. ýShe is currently the Associate Director of the Johns Hopkins University/NHGRI Genetic Counseling Training Program. I'm a genetic counselor, so I can tell you about how I became a genetic counselor. But, this certainly isn't the only job you can do in genetics. As an undergraduate I was a psychology major. Lots of genetic counseling students major in a science or psychology, but people can come to the profession from lots of different undergraduate majors. More than specific education background, a person needs to have skill in helping others and knowledge of clinical and molecular genetics. The genetics you can learn in school. The skills in helping others can be obtained by volunteering at a place that will give you training and let your practice, such as a crisis intervention hotline. There are approximately 30 graduate programs in genetic counseling accredited by the American Board of Genetic Counseling. You can look at the ABGC website to learn more about those programs and what their specific requirements are. Once you have a Master's degree, you can practice as a genetic counselor in a lot of different places. Good luck! Francis Howell North High School in MO (12th grade student)

133

Of all the genteic disorders there are, why is it that we can't yet determine the chances of a person getting a disease and then begin treating them earlier on and maybe lengthen their life spans?      Kelle Steenblock, M.S., C.G.C.: I am the Senior VP of clinical services at Informed Medical Decisions. I oversee five teams of genetic counselors providing clinical services in cancer, reproductive, neuro, ocular and cardiac genetics. I also actively provide telephone clinical genetic counseling for both reproductive and cancer genetics. Actually, for some genetic or heritable conditions we can determine risk and provide screening and or options that can significantly reduce the risk of developing the disease. Family history is the most valuable screening tool for determining risk for genetic disease. Breast cancer is a great example of this. When a mutation is known to cause breast cancer in a family at risk family members can be tested to see if they too carry the mutated gene. If they do screening or surgical options are offered to reduce the risk of cancer or catch it at an earlier stage. Peru High School in IN (11th grade student)

134

There is a variability in the number of chromosomes among organisms, but do they look the same as human chromosomes?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. Pretty much. They certainly all have the same parts, telomeres, centromeres and genes. In fact among related animals, mammals for instance, blocks of genes are almost always are together. As you say the number varies between organisms - mice have 20, humans have 23. A lot of this comes from fusion of chromosomes or breakage of 1 chromosomes into two. If you look at them under a microscope, an expert can tell what the organisms they come from but I could not. hlina in MD ()

135

Why is there no "cure" for cancer?      Pam Schwartzberg, M.D., Ph.D.: I currently study mouse models of primary immunodeficiencies (genetic diseases that impair the ability of the immune system to fight infections) and how specific disorders affect responses to infectious diseases. Cancer is a name for many different diseases that are associated with uncontrolled growth. Cancer is generally associated with multiple genetic changes--thus it can be very difficult to treat. Nonetheless, in the last 5-10 years, there have been spectacular treatments developed for specific cancers, based on the genetic changes associated with that particular cancers. That is part of the importance of analyzing the "Cancer genome". Peru High School in IN (9th grade student)

136

I welcome Elliott Margulies, I ask him if i design a new sequencing technology, what parameters should I consider      Elliott Margulies, Ph.D.: Now entering the chat is Elliott Margulies. He uses new DNA sequencing technologies to sequence and analyze human genomes and incorporates information about comparatives genomics to learn how differences between human genomes relate to human health. I love this question! Remember that our genome is composed of very long chromosomes, on the order of megabases in length. Right now, DNA sequencing technologies only output very short reads -- as short as 100 bases and up to several kilobases (for the very latest technologies). So, we have to make compromises in analyzing genomes by trying to align these short reads back to a reference genome or use the overlaps in the short reads to assemble the genome. The ideal sequencing technology would be able to take an entire chromosome of DNA and read it in one single shot from the beginning to the end, without any errors. This requires the ability to look at single molecules of DNA and accurately distinguish between the A's C's G's and T's and report the results really fast. Let me know when you've got a new DNA sequencer for me to try! University of Molecular biology and bioinformatics (Higher Education )

137

How are pseudogenes formed?      Lauren Doyle, M.S.: I am currently split between prenatal (clinical and research), neurology and cancer clinics, so I see a broad base of patients on a weekly basis. In addition, I have completed a number of lectures and in-classroom activities about basic genetics to local schools and for other health professionals. Pseudogenes are currently thought to be formed through either duplication errors or through retrotransposition. Vilnius University (Higher Education teacher)

138

How many cancers do you know about that you can name off of the top of your head?      Kelle Steenblock, M.S., C.G.C.: I am the Senior VP of clinical services at Informed Medical Decisions. I oversee five teams of genetic counselors providing clinical services in cancer, reproductive, neuro, ocular and cardiac genetics. I also actively provide telephone clinical genetic counseling for both reproductive and cancer genetics. Basically any organ or organ system in the body can be affected with cancer. So if you can think of all the various organs in your body you can think of many different types of cancer (brain, tongue/lip, throat, thyroid, skin, breast, stomach, colon, endometrial/uterine, liver, lung, bladder, bile duct, testicular, blood (leukemia), lymphatic (lymphoma)........). Brownsville Area High School in PA (9th grade student)

139

What is still unknown about DNA's structure and function?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. Tons. One of the things I like to think about is how the DNA is regulated. The proteins made by chimps and humans are almost identical, but the genes are clearly turned on and off differently, resulting in the differences. We also do not know the function of at least 90% of the DNNA in a cell. The genes account for about 5%, and we know a little about the rest, but I'm sure we will find cool stuff in the parts of teh genome we have not studied much yet. Francis Howell North High School in MO (12th grade student)

140

We saw a video that talked about one gene for speech. Are there other genetic influences on speech?      Bruce Korf, M.D., Ph.D.: I am a medical geneticist and serve as chair of the Department of Genetics at the University of Alabama at Birmingham. My major area of focus is diagnosis and treatment of neurogenetic disorders, especially neurofibromatosis. Iým also involved in initiatives to integrate genetics and genomics into medicine. The are undoubtedly many, many genes involved in the process of speech, including genes that contribute to the physical as well as mental processes involved in generating and understanding speech. For the most part, though, we have yet to learn which of the 20,000 or so genes are involved in speech and language and how each contributes. Francis Howell North High School in MO (12th grade student)

141

Are there any genetic differences between people of different races?      Vence Bonham, J.D.: I currently research the ethical, legal, social and policy implications of genomic discoveries, particularly health professionals' and lay persons' understanding of race, ethnicity and genetics. "Race" is a social construct that is correlated with human genetic variation. There is one "race" the human race. All humans are more than 99% genetically the same. There are differences in the prevalence of some diseases that correlates with geographic location, self identified ethnicity, and race. Riverside High School in PA (10th grade teacher)

142

How does cancer cause damage to DNA? I have a family history of cancer!      Pam Schwartzberg, M.D., Ph.D.: I currently study mouse models of primary immunodeficiencies (genetic diseases that impair the ability of the immune system to fight infections) and how specific disorders affect responses to infectious diseases. Cancer is a complex disease. But some mutations that are associated with cancers (either found in sporadic cancers or inherited in families with high predispositions to certain types of cancers) are in genes that affect DNA repair or DNA recombination. These mutations will therefore lead to more mutations accumulating in the genome over time and can predispose to cancer or exacerbate it. Many cancer cells have such mutations and thus accumulate more mutations over time that can cause the cancer to become more aggressive. Riverside High School in PA (10th grade student)

143

Is hip dysplasia in humans a hereditary disorder? Or developmental?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. Both. You inherit genes that can make you more prone to it. However, even people who have a strong predisposition to hip dysplasia may be just fine because the developmental process is not disturbed enough for it to be a problem. We'd like to learn how to predict who will have a problem, and how it can be avoided. A good thing to watch out for in the future. Francis Howell North High School in MO (12th grade student)

144

What problems with the thyroid gland are hereditary?      Anne Madeo, M.S.: I have an M.S.in Human Genetics from the University of Michigan and currently working at the NIH as a genetic counselor since 2000. ýShe is currently the Associate Director of the Johns Hopkins University/NHGRI Genetic Counseling Training Program. One of the best resources for this kind of question is an online resource called OMIM: http://www.ncbi.nlm.nih.gov/omim OMIM is an online database of inherited disorders of humans and is a very reliable source of scientific and medical information about genetics. If you search that site for "thyroid" you get 716 hits! Lexington High School in SC (10th grade student)

145

Are diploid genomes more evolutionarily conserved or haploid genomes?      Elliott Margulies, Ph.D.: Now entering the chat is Elliott Margulies. He uses new DNA sequencing technologies to sequence and analyze human genomes and incorporates information about comparatives genomics to learn how differences between human genomes relate to human health. When we talk about things being evolutionarily conserved, we are technically referring to how long it's been since the two pieces of DNA (or genomes) evolved from a common ancestor. The number of copies of the genome an organism has (so called "ploidy" like diploid for two copies or haploid for one copy) doesn't impact how evolutionarily conserved two genomes might be. University of Molecular biology and bioinformatics (Higher Education )

146

I am most interested in how the base pairs match together. Do you think there were ever any other ones in the ancient past or were there only ever the four that we know and love today. Okie dokie!      Kelle Steenblock, M.S., C.G.C.: I am the Senior VP of clinical services at Informed Medical Decisions. I oversee five teams of genetic counselors providing clinical services in cancer, reproductive, neuro, ocular and cardiac genetics. I also actively provide telephone clinical genetic counseling for both reproductive and cancer genetics. DNA is a very long molecule made up of repeating units called nucleotides. The backbone of the nucleotides is the same, but the "bases" attached to the backbone can change. There are four different bases, (A,C,G,T) and that is where all the genetic information for making an organism resides. Aside from Uracil which replaces Thymine and pairs with Adenine during DNA Transcription these are the only bases that have been identified. Sue B in NJ (11th grade student)

147

Is it difficult to find a job in the genetics/ molecular biology field?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. Not really. Just like everything else, if you want it, you'll do what it takes to get there. In this case, you will want to go to college and major in Chemistry or Biology. Most people in the field also have graduate school experience. Francis Howell North High School in MO (12th grade student)

148

How does transcription work?      Erica Hirsch, M.S.: I started my career working in a biochemical genetics laboratory in New Orleans, where I gained knowledge of metabolic disorders. I then attended Mt. Sinai School of Medicine in New York, where I earned my Masters in Genetic Counseling. I worked as a prenatal genetic counselor for a few years helping couples whose pregnancies were considered to be high risk. Transcription is a multi-step process of making an RNA copy of a gene sequence. During the process, the information stored in a genes DNA is transferred to RNA in the cell nucleus. First, an enzyme "unzips" the double-stranded DNA by breaking the bonds between pairs of nucleotides. RNA nucleotides are then paired with complementary DNA bases, and the RNA "backbone" is formed. The RNA and DNA strands then break apart, freeing the newly made RNA strand. Campbell High School in NH (10th grade student)

149

How are you doing today? What are you doing other then this today? :D      Vence Bonham, J.D.: I currently research the ethical, legal, social and policy implications of genomic discoveries, particularly health professionals' and lay persons' understanding of race, ethnicity and genetics. I just returned from the ELSI Congress at the University of North Carolina yesterday. Today I have several meetings with leadership at NHGRI and I am working with the trainees in my lab on one of our research studies involving how knowledge of genomics is translating from research to physicians in their clinical practices. Riverside High School in PA (10th grade student)

150

What is the main objective of bioinformatics: Iis it using the programs of others and writing papers or creating your own algorithms?      Elliott Margulies, Ph.D.: Now entering the chat is Elliott Margulies. He uses new DNA sequencing technologies to sequence and analyze human genomes and incorporates information about comparatives genomics to learn how differences between human genomes relate to human health. It can be both, and more! Bioinformatics has become a catch phrase for anything to do with using computers to study biology. University of Molecular biology and bioinformatics (Higher Education )

151

Have there been any developments toward a cure for Fraunbergism, which is an x-linked disorder resulting in fatigue, general irritability and extreme thirst?      Anne Madeo, M.S.: I have an M.S.in Human Genetics from the University of Michigan and currently working at the NIH as a genetic counselor since 2000. ýShe is currently the Associate Director of the Johns Hopkins University/NHGRI Genetic Counseling Training Program. I don't completely understand your question, in that I have never heard of "Fraunbergism." A similar question came up in the 2008 DNA Day chatroom. The person who asked about it that time described it as a disorder that "causes rapid aging and extreme loss of memory." It sounds as though the understanding of the disorder has changed since then, which suggests that there have been some developments. Genomics is contributing a lot to our understanding of thousands of rare diseases. Eventually, that increased understanding will translate into new treatment and even prevention strategies, perhaps even for diseases like Fraunbergism. Banerjee in NJ (Higher Education student)

152

RNA plays a role in protein synthesis, but what does it do in our bodies that helps us out? What could happen if we didn't have it in are bodies?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. You would not make protein and could not live. Proteins do everything in the cell. They help make DNA so a cell can divide. The break down sugar to make energy so a cell can make proteins and DNA. Proteins give a cell it's structure, and they are important parts of membranes. You know, you cvan make the same argument for DNA - it makes the RNA that is translated into protein. Or proteins - you need them to run the cell and make DNA and RNA. Brownsville Area High School in PA (9th grade student)

153

What are some types of foods that have genetically modified?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. Many. One of the most exciting is rice. They have been modified to make a vitamin that is lacking from the regular diets of many people in the world. By eating this rice, the people get the vitamin and are much healthier. Williamsburg Middle School in VA (7th grade student)

154

I heard we share more DNA with cows than with primates. Do you suspect this is why we all find cows milk so delicious? If there is a connection, more research of the pig's genome should be in order because, oh boy do people love bacon!      Elliott Margulies, Ph.D.: Now entering the chat is Elliott Margulies. He uses new DNA sequencing technologies to sequence and analyze human genomes and incorporates information about comparatives genomics to learn how differences between human genomes relate to human health. I'm curious to know where you heard this. Because when I look at the cow genome, it is DEFINITELY less similar to humans that another primate's genome (like the chimpanzee or baboon). The pig genome has been sequenced too -- so now you can use the scientific method to test your hypothesis and see if the genes in another organism has anything to do with why we like the food they provide us! Jeff Slowin in PA (11th grade teacher)

155

I'm interested in becoming a neonatal nurse and would like to know if it would be a good idea to learn more about DNA?      Anne Madeo, M.S.: I have an M.S.in Human Genetics from the University of Michigan and currently working at the NIH as a genetic counselor since 2000. ýShe is currently the Associate Director of the Johns Hopkins University/NHGRI Genetic Counseling Training Program. Understanding about DNA, genetics and genomics could definitely help a neonatal nurse. Many of the conditions that result in an infant needing NICU care are the result of genetics. You don't need to be an expert in DNA, but knowing something about DNA and heredity could definitely help. Good luck with your career plans! Riverside High School in PA (10th grade student)

156

What genetic qualities does HIV have that make it so resistant to the discovery of vaccine treatments?      Pam Schwartzberg, M.D., Ph.D.: I currently study mouse models of primary immunodeficiencies (genetic diseases that impair the ability of the immune system to fight infections) and how specific disorders affect responses to infectious diseases. There are multiple reasons why it has been difficult to develop a vaccine for HIV. First, it should be appreciated that the best vaccines are for viruses (generally) where there is a good antibody response that can rapidly neutralize a rapidly replicating virus. There really have not been great antibodies that neutralize HIV (as opposed to flu, smallpox, etc). HIV also is a retrovirus that only goes through RNA intermediates and the viral polymerase is very error prone. Thus, HIV rapidly mutates, changing many of its epitopes that the immune system can react against. The transmission of HIV is also quite complex, going through multiple cell types and also staying in a latent form in cells where it hard to treat. So what tissues to target (ie mucosal surfaces), whether you will get neutralizing antibodies or whether cellular-based immunity is better to harvest are all questions that researchers are grappling with. But realize that there are many infectious diseases that are in the same situation: TB and malaria are also major scourges of the developing world and have been difficult to approach. Francis Howell North High School in MO (12th grade student)

157

I am so glad that Dr. Elliott Margulies, is responding me.      Elliott Margulies, Ph.D.: Now entering the chat is Elliott Margulies. He uses new DNA sequencing technologies to sequence and analyze human genomes and incorporates information about comparatives genomics to learn how differences between human genomes relate to human health. Thanks for your great questions! University of Molecular biology and bioinformatics (Higher Education )

158

Is there any way when I eventually have children to put DNA in them to make them a super athlete?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. You could try, but it probably won't work all that well. There are studies in mice that show that a certain gene can make them bigger and stronger. There are single gene varients that help people make red blood cells or more muscle. But not all of them are great athletes. Great athletes are both made and born. You have to want to train and be dedicated. Look around your school. Are there some guys who are great athletes but do not work hard? I bet you can name some. The IAAF and other organizations are learning how to detect gene doctoring and several athletes have been busted. This technology will improve as time goes along. Peru High School in IN (11th grade student)

159

Genes work in a particular environment. Can a plant gene be expressed and work in animals?      Pam Schwartzberg, M.D., Ph.D.: I currently study mouse models of primary immunodeficiencies (genetic diseases that impair the ability of the immune system to fight infections) and how specific disorders affect responses to infectious diseases. We do express animal genes in plant cells very often (to express alot of a gene product). Likewise, we can express plant genes in animal cells or transgenic animals if we want to study them or use them to label another protein. One might need to change the regulatory region that controls expression of the gene (ie express the gene from the promoter of an animal gene or a gene that is broadly expressed). University of Molecular biology and bioinformatics (Higher Education )

160

Why are blue eyes more commonly seen in Caucasians as compared to people of a race that have darker skin?      Pam Schwartzberg, M.D., Ph.D.: I currently study mouse models of primary immunodeficiencies (genetic diseases that impair the ability of the immune system to fight infections) and how specific disorders affect responses to infectious diseases. People with darker skin color usually express more melanin which will affect eye color. But there are several genetic loci that affect eye color. Francis Howell North High School in MO (12th grade student)

161

Is there anybody studying a new cancer therapy based on cell fusion?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. At the research level, cell fusion can restore a normal function to a cell, and that includes cancer cells. Of course the reverse is also true, the cancer cell can reprogram the normal cell. I'd say that this approach is a ways off, but has some promise. Universita Degli Studi di Milano (5th grade student)

162

What is the current research concerning development of treatments/cures for STDs like herpes?      Kelle Steenblock, M.S., C.G.C.: I am the Senior VP of clinical services at Informed Medical Decisions. I oversee five teams of genetic counselors providing clinical services in cancer, reproductive, neuro, ocular and cardiac genetics. I also actively provide telephone clinical genetic counseling for both reproductive and cancer genetics. Determining which genetic variations contribute to the development of STDs is helpful in identifying treatment and or possible vaccinations. For example, HPV (Human Papilloma Virus), now has an available vaccination. This vaccination protects against certain high risk strains of the virus that can lead to the development of cervical cancer. Vaccinations cannot cure an active infection and are only effective prior to contracting HPV. DNA testing can be done for certain high risk strains to determine the type of treatment needed if HPV is identified through routine (pelvic/pap) screening. Francis Howell North High School in MO (12th grade student)

163

When people have surgery and have metal implanted in them to help with whatever is wrong, how does the body not try to expel it or try to form around it or break it in any way?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. Basically because the immune cells in the body are trained to recognize proteins. That is why they do not recognize metals and plastics very well. Riverside High School in PA (10th grade student)

164

Can we design synthetic genes? I mean brand new genes?      Anne Madeo, M.S.: I have an M.S.in Human Genetics from the University of Michigan and currently working at the NIH as a genetic counselor since 2000. ýShe is currently the Associate Director of the Johns Hopkins University/NHGRI Genetic Counseling Training Program. Yes, this has happened already. In fact, in 2007 researchers designed an entirely synthetic bacterium! University of Molecular biology and bioinformatics (Higher Education )

165

is Genome imprinting is a epigenomic phenomena      Lauren Doyle, M.S.: I am currently split between prenatal (clinical and research), neurology and cancer clinics, so I see a broad base of patients on a weekly basis. In addition, I have completed a number of lectures and in-classroom activities about basic genetics to local schools and for other health professionals. Yes, genome imprinting is considered to be an epigenetic mechanism. University of Molecular biology and bioinformatics (Higher Education )

166

Why is DNA made up of so many chemicals? Does this contribute to its physical strength?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. It is not really all that many. One sugar, a phosphate group and 4 bases. However, DNA is a long polymer so there are a multitude of possible way to put it together. As far as strength goes. The backbone is relatively strong because the bonds that hold it together are covalent (remember chemistry?). The hydrogen bonds that hold the two strands together are weaker, allowing DNA to separate for replication. The Children's Home of Reading in PA (10th grade student)

167

How far along are we in understanding the role of micro RNAs in cancer? Have the different genes been identified? Given that the levels of miRNA found in cancer cells is lower than normal, would it be possible to devise a way to up regulate miRNA expression in these patients and thereby attempt to treat the illness?      Bruce Korf, M.D., Ph.D.: I am a medical geneticist and serve as chair of the Department of Genetics at the University of Alabama at Birmingham. My major area of focus is diagnosis and treatment of neurogenetic disorders, especially neurofibromatosis. Iým also involved in initiatives to integrate genetics and genomics into medicine. There has been a lot of progress in this area, with many miRNAs identified that appear to be important in cancer. Finding ways to module miRNA expression is indeed an active area of cancer research, with the hope of development of new means of therapy. Williamsburg Middle School in VA (7th grade student)

168

Some people say that genes depend on the signal. So they think signaling pathway is more important than gene structure? What do you think about it?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. As a geneticist, I favor the gene, but that is my opinion. The fact is that no gene can be useful unless there is a signal to turn it on and off. So I guess the best answer is that they are needed together. a****a tran (Higher Education student)

169

What are some of the latest successes with gene therapy?      Pam Schwartzberg, M.D., Ph.D.: I currently study mouse models of primary immunodeficiencies (genetic diseases that impair the ability of the immune system to fight infections) and how specific disorders affect responses to infectious diseases. There have been some spectacular successes with gene therapy, particularly for some of the genetic disease associated with vision, where vision has been restored in Leber congenital amaurosis. The eye is particularly great for delivery of genes. But there are also successes in the field of immunodeficiencies and other disease of the blood. And the use of gene therapy for metabolic disorders is a promising new area (in mouse models). Lexington High School in SC (10th grade student)

170

what are the genes of thoughts and dreams (i mean desires). or the thoughts are related to epigenomics      Bruce Korf, M.D., Ph.D.: I am a medical geneticist and serve as chair of the Department of Genetics at the University of Alabama at Birmingham. My major area of focus is diagnosis and treatment of neurogenetic disorders, especially neurofibromatosis. Iým also involved in initiatives to integrate genetics and genomics into medicine. How thoughts, memories, and other functions of the brain work remains a mystery and a very active area of research. There is evidence that epigenetic processes play a role in brain functions, especially memory, though we are a long way from understanding the details. University of Molecular biology and bioinformatics (Higher Education )

171

Throughout all your years studying genetics and DNA, are you still amazed by what you study? What amazes you the most?      Erica Hirsch, M.S.: I started my career working in a biochemical genetics laboratory in New Orleans, where I gained knowledge of metabolic disorders. I then attended Mt. Sinai School of Medicine in New York, where I earned my Masters in Genetic Counseling. I worked as a prenatal genetic counselor for a few years helping couples whose pregnancies were considered to be high risk. I am absolutely still amazed by genetics and DNA, and I believe I always will be! In fact, it feels like the more I learn about it, the more questions I have. It's hard to say what amazes me most, but one thing is the fact that such tiny molecules carry such a vast amount of information and can work together to create such amazing, complicated organisms. Brownsville Area High School in PA (9th grade student)

172

Why is it that my whole family can tan, but I have really pale skin?      Pam Schwartzberg, M.D., Ph.D.: I currently study mouse models of primary immunodeficiencies (genetic diseases that impair the ability of the immune system to fight infections) and how specific disorders affect responses to infectious diseases. Chances are that you express less melanin than the others in your family. Peru High School in IN (9th grade student)

173

One of my aunts had cancer, then her grandson had cancer, now one of her daughter's have cancer, does this mean cancer is a genetic thing in this family? And if so, does that mean that I could have it in my family line?      Lauren Doyle, M.S.: I am currently split between prenatal (clinical and research), neurology and cancer clinics, so I see a broad base of patients on a weekly basis. In addition, I have completed a number of lectures and in-classroom activities about basic genetics to local schools and for other health professionals. Great question. First, most cancer is a combination of genes and environment. Each individual has a different pre-disposition to cancer based on their specific genetic make up and the environmental influences they are exposed to over the course of their lifetime. When we evaluate someone for a hereditary cause of cancer, we look for the following 5 things: 1) early age of diagnosis for that type of cancer, 2) multiple generations affected, 3) potentially related cancers, 4) presence of rare cancers, 5) ethnic background. We do a thorough assessment based on medical and family history. If your aunt was found to carry an identifiable genetic chance responsible for an increased cancer risk, then it's possible that it could also be in your family line. Meeting with a genetic counselor would be a great way to determine the specific risks for your family. Peru High School in IN (11th grade student)

174

There is so much buzz around sequencing systems of late. seems that its becoming a race to who can develop the next best technology. In your lab, what systms are you and your technicians using to sequence DNA and RNA and what do you think about the competition in the sequencing space among vendors? Do you plan to buy any new sequencing technologies in the near term future? Thanks      Kelle Steenblock, M.S., C.G.C.: I am the Senior VP of clinical services at Informed Medical Decisions. I oversee five teams of genetic counselors providing clinical services in cancer, reproductive, neuro, ocular and cardiac genetics. I also actively provide telephone clinical genetic counseling for both reproductive and cancer genetics. I am a genetic counselor and don't currently work in a laboratory based setting, but I do routinely order genetic tests. Previously I worked in a high volume molecular diagnostics lab so I am familiar with the frequently changing and upgrading of technologies. One of the main reasons for upgrading technology is to increase the efficiency and lower the cost per analysis. The cost of genetic testing is coming down as we have the ability to test more samples at a time for more genetic variations with less human intervention. As a genetic counselor, I often look at the cost of the test for my patient as well as their insurance coverage for the test when selecting a laboratory. Johns Hopkins University in MD (Higher Education student)

175

Is the actual science of DNA Haplogroups for Anthropology/Ethnology and genealogy differ from Forensics and Medicine? Are the results interchangeable?      Bruce Korf, M.D., Ph.D.: I am a medical geneticist and serve as chair of the Department of Genetics at the University of Alabama at Birmingham. My major area of focus is diagnosis and treatment of neurogenetic disorders, especially neurofibromatosis. Iým also involved in initiatives to integrate genetics and genomics into medicine. To my knowledge, the information about haplogroups would be similar whether the application is forensic, anthroplogical, or medical. What will differ is the way the data are analyzed and the types of data required. Rand Noel in NV ()

177

I love to sing - Whether it's karaoke, at my desk, or in the shower. I've even recently made an internet video. Do you suspect that this is genetic?      Elliott Margulies, Ph.D.: Now entering the chat is Elliott Margulies. He uses new DNA sequencing technologies to sequence and analyze human genomes and incorporates information about comparatives genomics to learn how differences between human genomes relate to human health. I play keyboards in a genome rock band (along with the director of the NIH who plays guitar and lead vocals). It's hard to tell if it's genetics or your environment. For example, I play music and sing to my child all the time, and she also enjoys singing and listening to music. Did she get it from my genes or just the fact that we have been singing and playing music to her since before she was born! Music is a wonderful gift, whether it's genetics or not! J.C. in NJ (Higher Education student)

178

Many people consider biotechnology (molecular biology) as magic: putting genes together and making a super creature. Biotechnology is a science; we have to follow laws of biology, what do you think?      Anne Madeo, M.S.: I have an M.S.in Human Genetics from the University of Michigan and currently working at the NIH as a genetic counselor since 2000. ýShe is currently the Associate Director of the Johns Hopkins University/NHGRI Genetic Counseling Training Program. You raise an important question that most geneticists wrestle with--what are the ethical issues that we must consider as we do our research? In fact, when the Human Genome Project was initiated the Director felt this topic was so important that he dedicated 5% of the funding to research addressing ethical, legal and social issues (ELSI) that arose from new genetic technologies. We all answer the question you ask differently--the most important thing is that you think about it and ask questions, just like you are. University of Molecular biology and bioinformatics (Higher Education )

179

I have researched about pluripotent stem cells and their use for skin cells. Is it possible to use stem cells to rebuild major body tissues and organs without having the body reject the transplanted cells?      Pam Schwartzberg, M.D., Ph.D.: I currently study mouse models of primary immunodeficiencies (genetic diseases that impair the ability of the immune system to fight infections) and how specific disorders affect responses to infectious diseases. THis is one of the hope of using stem cells and induced pluripotent stem cells for degenerative disorders. Some tissues, like the liver, are particularly good at regeneration. The hope is that by being able to induce stem cells from the same person, issues of rejection will be minimized. Peru High School in IN (11th grade student)

Now entering the chat is Heather Junkins. She currently works in the Office of Population Genomics on a variety of projects that aims to promote the application of genomic technologies to population-based studies.

182

Is it possible to get a mutation from a spider bite?      Pam Schwartzberg, M.D., Ph.D.: I currently study mouse models of primary immunodeficiencies (genetic diseases that impair the ability of the immune system to fight infections) and how specific disorders affect responses to infectious diseases. Probably not, unless the spider carried some compound that affected DNA. But even then it would just affect a given cell, not your entire organism. Francis Howell Central High School in MO (10th grade student)

183

What is the latest application of DNA research?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. There are so many. But right now, we have just entered a time when we can sequence a genome in a matter of days for about $5-8,000. Compare that to years and a billion dollars for the first human genome sequence. This allows us to sequence individual patients, and we are finding mutations that explain disorders we never understood before. There is a big push to do cancer genomes, and I think this will help us find better drugs to treat these disorders. Riverside High School in PA (10th grade teacher)

184

Dr. Schwartberg -I sometimes suffer from bad migraines; is this inheritable? My mom has them too.      Pam Schwartzberg, M.D., Ph.D.: I currently study mouse models of primary immunodeficiencies (genetic diseases that impair the ability of the immune system to fight infections) and how specific disorders affect responses to infectious diseases. There was just a recent study published in the journal Nature last year, providing evidence for a genetic linkage in migraines that is associated with increased glutamate, an amino acid that also functions as a neurotransmitter. The Children's Home of Reading in PA (10th grade teacher)

185

What is a parallel telemere quadruple structure and how does the function of it differ from a double helix?      Lauren Doyle, M.S.: I am currently split between prenatal (clinical and research), neurology and cancer clinics, so I see a broad base of patients on a weekly basis. In addition, I have completed a number of lectures and in-classroom activities about basic genetics to local schools and for other health professionals. A parallel G-quadruplex structure is one of a small number of foliding topologies identified for telomere repeat sequences during in vitro situations. Four different folding topologies have been identified to date, all through in vitro studies. Recent studies have suggested that these folding patterns only occur in vitro, and not in vivo. If we determine through further research that this is truly the case, then we cannot extrapolate an in vivo function for this structure, as it may just be an alternate structure that forms in different environments. Campbell High School in NH (10th grade student)

Now entering the chat is Michael Dougherty, Ph.D. He is currently the director of educational activities for the American Society of Human Genetics (www.ashg.org/education). Before joining ASHG, He taught genetics and biochemistry at Hampden-Sydney College in Virginia and studied the formation and transmission of prions, protein-only infectious agents that can cause disease in humans.

187

How you define gene in this post-genomic era?      Mike Dougherty, B.A., Ph.D.: I am currently the director of educational activities for the American Society of Human Genetics (www.ashg.org/education). Before joining ASHG, I taught genetics and biochemistry at Hampden-Sydney College in Virginia and studied the formation and transmission of prions, protein-only infectious agents that can cause disease in humans. Believe it or not, this is not an easy question to answer. Traditionally, a gene is defined as the basic unit of heredity, or a segment of DNA needed to contribute to a biological function. We used to take that to mean only those pieces of DNA that code for proteins. However, scientists have recently discovered other kinds of genes besides those involved in making proteins. I think the definition will become increasingly abstract, for example, to include any genetic information that influences inheritance or development. University of Molecular biology and bioinformatics (Higher Education )

188

are the karyotypes of other animals similar to humans?      Kelle Steenblock, M.S., C.G.C.: I am the Senior VP of clinical services at Informed Medical Decisions. I oversee five teams of genetic counselors providing clinical services in cancer, reproductive, neuro, ocular and cardiac genetics. I also actively provide telephone clinical genetic counseling for both reproductive and cancer genetics. Yes there is similarity. Humans and animals have chromosome pairs. One chromosome from each pair is inherited from the mother and one from the father. The total number of chromosomes does differ across species (Cows 60, Pigs 38, Cats 38, Humans 46). Takisha in MD ()

189

Hi, Westview is now ready to participate! :)      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. Great, we're glad to have you. we have lots of people ready for you. Westview High School in CA (teacher)

190

Can some restriction enzymes not cut the right nucleotide sequence?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. Yes indeed. Restriction enzymes recognize a specific nucleotide sequence, but if one of the bases is modified, it can cause the enzyme not to recognize the site. For example in mammals, some C residues get modified with a CH3 (methyl) group. This can inhibit the activity os some enzymes, but not all. In bacteria, putting a methyl group on As inhibits restriction enzymes. Westview High School in CA (9th grade student)

191

What is recombinant DNA?      Lucia Hindorff, Ph.D., M.P.H.: I am currently working with a number of investigators around the country on a program that is designed to take the most promising genetic variants from recent studies and learn more about them in large populations with extensive data. I'm hoping to learn more about the different pathways that these variants are involved in and possibly identify some environmental factors that may modify disease associations. Also. I am one of the curators of the National Human Genome Research Institute Genome-Wide Association studies Catalog, a summary of findings from published genome-wide association studies. Recombinant DNA is DNA that comes from more than one source. For example, to figure out what a human DNA sequence does, an experiment may be set up to express this sequence in a bacterial cell by incorporating it into bacterial DNA. This can help show the function of the DNA sequence. Westview High School in CA (10th grade student)

192

How can gene sequencing better our everyday lives?      Anne Madeo, M.S.: I have an M.S.in Human Genetics from the University of Michigan and currently working at the NIH as a genetic counselor since 2000. ýShe is currently the Associate Director of the Johns Hopkins University/NHGRI Genetic Counseling Training Program. Lots of ways! A goal of gene sequencing is to identify how genes contribute to disease and health. Ultimately, this should lead to the development of treatments that are personalized to an individual's genetic sequence. Better still, this understanding will help us identify ways to prevent diseases from happening. I would say that would be an improvement in our everyday lives! Westview High School in CA (9th grade student)

193

Why did you decide to introduce transgenic animals?      Bruce Korf, M.D., Ph.D.: I am a medical geneticist and serve as chair of the Department of Genetics at the University of Alabama at Birmingham. My major area of focus is diagnosis and treatment of neurogenetic disorders, especially neurofibromatosis. Iým also involved in initiatives to integrate genetics and genomics into medicine. Transgenic animals have proved to be an extraordinarily valuable tool in medical research. They permit the development of animal models for human conditions that are not otherwise seen naturally, opening the door to discover new disease mechanisms and test new treatments. Westview High School in CA (9th grade student)

194

What do you use (like tools) to make a clone?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. If you want to clone a piece of DNA, you need a vector - a piece of DNA that you can insert your fragment in and that will allow the recombinant DNA (vector + insert) to grow in bacteria or yeast. Then you plate out your bugs and analyze individual colonies or clones. If you are talking about cloning organisms, it is harder. Moist cloning involves removing a nucleus from a cell and injecting it into an egg (after removing the egg nucleus). In a few cases, the new nucleus directs the egg to develop into an identical organism or clone. Some people are cloning pets, but researchers are using this technology to understand how the DNA is reorganized during development. Westview High School in CA (9th grade student)

195

Why did you chose to become a scientist?      Bruce Korf, M.D., Ph.D.: I am a medical geneticist and serve as chair of the Department of Genetics at the University of Alabama at Birmingham. My major area of focus is diagnosis and treatment of neurogenetic disorders, especially neurofibromatosis. Iým also involved in initiatives to integrate genetics and genomics into medicine. I became interested in medical research early on, while in high school. I saw in this the ability to ask critical questions that might make a real difference in people's lives. I could never have imagined at the time the huge opportunities that have emerged to empower our research, especially in the area of genetics and genomics since the sequencing of the human genome. Westview High School in CA (10th grade student)

196

How can we define dominant or recessive in terms of modern molecular biology or genomics?      Anne Madeo, M.S.: I have an M.S.in Human Genetics from the University of Michigan and currently working at the NIH as a genetic counselor since 2000. ýShe is currently the Associate Director of the Johns Hopkins University/NHGRI Genetic Counseling Training Program. Your question is wise. Our understanding of genetics and genomics has expanded far beyond Mendel's original work. If we take a systems biology perspective, it's clear that genes interact in ways that are far more complex than can be understood by simple recessive or dominant explanations. I admit, I don't have a good definition for them. However, I think good definitions will evolve and be more abstract as our understanding of genetics expands. University of Molecular biology and bioinformatics (Higher Education )

197

Who created the very first medical device of biotechnology?      Mike Dougherty, B.A., Ph.D.: I am currently the director of educational activities for the American Society of Human Genetics (www.ashg.org/education). Before joining ASHG, I taught genetics and biochemistry at Hampden-Sydney College in Virginia and studied the formation and transmission of prions, protein-only infectious agents that can cause disease in humans. Many researchers might consider the first medical devices to be vaccines. Edward Jenner used cow pox as a vaccine against smallpox, way back in the late 18th century. If you are thinking of more modern, post-DNA structure inventions, then you might consider recombinant DNA plasmids, for example those used to produce insulin in bacteria. Westview High School in CA (9th grade student)

198

How long did you have to study in college to get to the position that you are at now?      Lauren Doyle, M.S.: I am currently split between prenatal (clinical and research), neurology and cancer clinics, so I see a broad base of patients on a weekly basis. In addition, I have completed a number of lectures and in-classroom activities about basic genetics to local schools and for other health professionals. I have a Bachelor's of Science in Biochemistry (4 years) and then completed a 2 year Master's program. Genetic Counseling is currently a Master's-terminal field, meaning that the highest possible degree available is a Master's degree. Some Genetic Counselors have PhDs, but you don't need one to practice clinically. Westview High School in CA (9th grade student)

199

If your interested in a career in biotechnology, what steps do you need to take?      Lucia Hindorff, Ph.D., M.P.H.: I am currently working with a number of investigators around the country on a program that is designed to take the most promising genetic variants from recent studies and learn more about them in large populations with extensive data. I'm hoping to learn more about the different pathways that these variants are involved in and possibly identify some environmental factors that may modify disease associations. Also. I am one of the curators of the National Human Genome Research Institute Genome-Wide Association studies Catalog, a summary of findings from published genome-wide association studies. That's great - biotechnology is a fast-moving and exciting field! One place to start is the NHGRI Genomic Careers Resource at http://www.genome.gov/genomicCareers/. This will give you some great background information. You could also ask a science teacher at your school about classes that you might take at your school, or local experts that you could talk to. Good luck! Westview High School in CA (9th grade student)

200

Is the radiation in the cells of the people from Japan going to pass down to further generations?      Anne Madeo, M.S.: I have an M.S.in Human Genetics from the University of Michigan and currently working at the NIH as a genetic counselor since 2000. ýShe is currently the Associate Director of the Johns Hopkins University/NHGRI Genetic Counseling Training Program. Radiation can't be passed from parent to child. What might be passed from parent to child is changes (mutations) in the genes of people in Japan who are exposed to the radiation. Palms Middle School in CA (7th grade student)

201

Could gene therapy be used to control a person's DNA?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. Not really. Gene therapy can add a single gene, but we do not understand gene regulation enough to control DNA. Westview High School in CA (9th grade student)

202

How do we know if mutation is happening in our DNA?      Anne Madeo, M.S.: I have an M.S.in Human Genetics from the University of Michigan and currently working at the NIH as a genetic counselor since 2000. ýShe is currently the Associate Director of the Johns Hopkins University/NHGRI Genetic Counseling Training Program. We don't know if a mutation is happening. What we do know is that we all have mutations because the fidelity (accuracy) of the DNA replication machinery isn't perfect. Palms Middle School in CA (7th grade student)

203

How long does it take the restriction enzymes to cut DNA?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. Minutes. Restriction enzyme activity is defined in units. One unit digests 1 microgram of DNA in 1 hour. Westview High School in CA (9th grade student)

204

How many genomes have been sequenced as of today?      Mike Dougherty, B.A., Ph.D.: I am currently the director of educational activities for the American Society of Human Genetics (www.ashg.org/education). Before joining ASHG, I taught genetics and biochemistry at Hampden-Sydney College in Virginia and studied the formation and transmission of prions, protein-only infectious agents that can cause disease in humans. It's hard to know for sure because some human genome sequencing is being done by companies, but the number is likely more than two dozen. Many hundreds of exomes (the protein-coding DNA) have been sequenced. Westview High School in CA (9th grade student)

205

Why is DNA in a double helix?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. That is the most energy efficient state for the molecule. This means it is most stable in a cell in this configuration, and that way it's properties are stable too. Westview High School in CA (9th grade student)

206

Can you provide good resources for the lay person that describes the origin of living things on earth through how homo sapiens evolved from a common ancestor with the great apes?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. The works or Louis Leaky. He has a lot of stuff in National Geographic. Lisa Ortuno in SC (Higher Education )

207

How old were you when you first got into biology?      Kelle Steenblock, M.S., C.G.C.: I am the Senior VP of clinical services at Informed Medical Decisions. I oversee five teams of genetic counselors providing clinical services in cancer, reproductive, neuro, ocular and cardiac genetics. I also actively provide telephone clinical genetic counseling for both reproductive and cancer genetics. It was in my 9th Grade biology class that I determined I wanted to do something in genetics when I grew up. We did a DNA Helix exercise in class that really got me excited to learn more about genetics. Westview High School in CA (9th grade student)

208

What are the bad affects of cloning humans?      Lucia Hindorff, Ph.D., M.P.H.: I am currently working with a number of investigators around the country on a program that is designed to take the most promising genetic variants from recent studies and learn more about them in large populations with extensive data. I'm hoping to learn more about the different pathways that these variants are involved in and possibly identify some environmental factors that may modify disease associations. Also. I am one of the curators of the National Human Genome Research Institute Genome-Wide Association studies Catalog, a summary of findings from published genome-wide association studies. This is a complicated question because so far humans have not yet been cloned. As you can imagine, there are some serious issues to think about - how would the idea of individuality change? What ethical reasons would there be to clone humans? Some of these issues have been discussed but there are certainly many more that need to be discussed. You can find some additional information on human cloning here: http://en.wikipedia.org/wiki/Human_cloning. Palms Middle School in CA (7th grade student)

209

Do you see preimplantation genetic diagnosis becoming more common? What are the genetic disorders that they are most commmonly screening for?      Anne Madeo, M.S.: I have an M.S.in Human Genetics from the University of Michigan and currently working at the NIH as a genetic counselor since 2000. ýShe is currently the Associate Director of the Johns Hopkins University/NHGRI Genetic Counseling Training Program. It's hard to know whether it will become more common. Right now it is *very* expensive and that are a lot of demands on our health care system. I think that the disorders that are most commonly screened for are those that are particularly devastating and/or may result in a significantly shorter life span, such as Duchenne muscular dystrophy or Huntington's disease. Lexington High School in SC (11th grade student)

210

I recently read up on a person named Henrietta who produced the as far as I know first strain of Immortal cells, Can these cells be manipulated in a way to remove the cancerous nature and be applied to prolong life or the youth of the body which in return would lengthen life of a human being? or is this already being done?      Bruce Korf, M.D., Ph.D.: I am a medical geneticist and serve as chair of the Department of Genetics at the University of Alabama at Birmingham. My major area of focus is diagnosis and treatment of neurogenetic disorders, especially neurofibromatosis. Iým also involved in initiatives to integrate genetics and genomics into medicine. The cells you are referring to, called "HeLa cells" have been used extensively in cancer research and in studies of the mechanisms that control cell longevity. I doubt that it would be feasible to rescue the tendency of these cells to behave as a cancer, given the very many genetic changes they have acquired that give them abnormal growth properties. What has been learned from study of these cells will be valuable in developing new approaches to studies both of cancer and of aging. Whether it will be possible to change the rate of aging of cells in people based on this work, though, remains an unanswered question. Felix Ortiz in RI (Higher Education )

211

What is the Microbiome project and what is it useful for?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. You may have a billion cells in your body, but you have about 10 billion bacteria living in you or on you. These microbes definately influence your health, so it is important to figure out which ones are in or on sick people and whether healthy folks have different ones. Palms Middle School in CA (7th grade student)

212

What can we expect to see from recombinant DNA experimentation in the future?      Mike Dougherty, B.A., Ph.D.: I am currently the director of educational activities for the American Society of Human Genetics (www.ashg.org/education). Before joining ASHG, I taught genetics and biochemistry at Hampden-Sydney College in Virginia and studied the formation and transmission of prions, protein-only infectious agents that can cause disease in humans. In the future, researchers will attempt to figure out exactly how all the genes we've discovered through the Human Genome Project actually affect health and disease. As we understand gene function better, we will be better at figuring out how to develop drugs that interfere with disease processes. Westview High School in CA (9th grade student)

213

Can we still use term "mental retardation" or should we now use "intellectual disability"?      Lauren Doyle, M.S.: I am currently split between prenatal (clinical and research), neurology and cancer clinics, so I see a broad base of patients on a weekly basis. In addition, I have completed a number of lectures and in-classroom activities about basic genetics to local schools and for other health professionals. Great question. "Mental retardation" is still considered a medical diagnosis for an individual with an IQ <70. Many individuals in the non-medical community prefer the term "intellectual disability" be applied to public use, rules, regulations and policy terminology. The most important thing is to remember to use people-first language. An "individual with mental retardation" is more appropriate than a "mentally retarded individual." A disability is something a person has, it does not define the individual. Vilnius University (Higher Education student)

214

Can a human genetically mutate to turn their skin color to red? Or any other color?      Lucia Hindorff, Ph.D., M.P.H.: I am currently working with a number of investigators around the country on a program that is designed to take the most promising genetic variants from recent studies and learn more about them in large populations with extensive data. I'm hoping to learn more about the different pathways that these variants are involved in and possibly identify some environmental factors that may modify disease associations. Also. I am one of the curators of the National Human Genome Research Institute Genome-Wide Association studies Catalog, a summary of findings from published genome-wide association studies. That would be convenient for Halloween :)! Actually, we currently don't know of any way to change someone's existing skin color through genetic mutations. But characteristics such as skin color, eye color and hair color are genetically influenced. Palms Middle School in CA (7th grade student)

Now joining the chat is Lucia Hindorff, Ph.D. She currently is working with a number of investigators around the country on a program that is designed to take the most promising genetic variants from recent studies and learn more about them in large populations with extensive data.

216

What dose mitochondrial dna do?      Anne Madeo, M.S.: I have an M.S.in Human Genetics from the University of Michigan and currently working at the NIH as a genetic counselor since 2000. ýShe is currently the Associate Director of the Johns Hopkins University/NHGRI Genetic Counseling Training Program. Mitchochondrial DNA gives our cells instructions for how to create proteins, just like nuclear DNA. What makes it different is that almost all of the proteins it provides instructions for are part of the machinery our cells use to create energy. Palms Middle School in CA (7th grade student)

217

What is the most challenging/ridiculous challenge u have faced?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. Sometimes I think it is when I get an unexpected result. When you get a new result, you have to trust yourself to think about something that you did not predict. These unexpected results are what changes our understanding of the way genetics works. Westview High School in CA (9th grade student)

218

Do you realize the insurmountable problems we face due to an overaging society as summarized in http://www.youtube.com/watch?v=pS2PS6bPeLY and do you agree with me that we need a Manhattan Project on genetics-based regenerative medicine to hold up this extremely serious issue?      Bruce Korf, M.D., Ph.D.: I am a medical geneticist and serve as chair of the Department of Genetics at the University of Alabama at Birmingham. My major area of focus is diagnosis and treatment of neurogenetic disorders, especially neurofibromatosis. Iým also involved in initiatives to integrate genetics and genomics into medicine. We are indeed faced with many major challenges in providing for the health and well-being of members of society as the population ages and I agree that there is a great need for research and development in many areas, including those of regenerative medicine. Some of this may be applied research, as was done in the Manhattan Project, but there is also a continued need for basic research, which is more difficult to plan and organize but no less needed. Kemal Akman, M.Sc.eq. (student)

219

Will certain food with DNA cause mutations?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. Nope, DNA is not a mutagen. Palms Middle School in CA (7th grade student)

220

Can DNA prevent us from having mutations?      Mike Dougherty, B.A., Ph.D.: I am currently the director of educational activities for the American Society of Human Genetics (www.ashg.org/education). Before joining ASHG, I taught genetics and biochemistry at Hampden-Sydney College in Virginia and studied the formation and transmission of prions, protein-only infectious agents that can cause disease in humans. DNA is where the mutations ARE, but, interestingly, some DNA encodes genes for proteins that find and repair mutations. Those genes don't really prevent mutations, but they're pretty good at fixing most but not all of them. Palms Middle School in CA (7th grade student)

221

Will scientists eventually be able to clone humans successfully?      Lauren Doyle, M.S.: I am currently split between prenatal (clinical and research), neurology and cancer clinics, so I see a broad base of patients on a weekly basis. In addition, I have completed a number of lectures and in-classroom activities about basic genetics to local schools and for other health professionals. I think the question is less of whether or not scientists will be able to clone humans, and more of whether or not society deems it acceptable or ethical to clone humans. Knowing that various animals have already been successfully cloned implies that it should be possible to clone humans, but many medical and social groups find this practice to be unethical and access to the proper cells to clone humans are limited due to research ethics and protocols. Westview High School in CA (10th grade student)

222

What is the most extreme and deadly type of DNA mutation?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. Good question. It probably depends on whether you have it or not. I would say that the flu mutations are the most deadly. When you get a new strain of flu, it can kill millions of people. Palms Middle School in CA (7th grade student)

223

I have a DNA joke for you: Three DNA strands walk into a bar, ask for menus, and order food. When their order was brought out, one of the strands was obviously upset. The bartender then asked "why the long face?" The DNA strand then responded: "No replication fork! Stop lagging man!" Funny huh?      Mike Dougherty, B.A., Ph.D.: I am currently the director of educational activities for the American Society of Human Genetics (www.ashg.org/education). Before joining ASHG, I taught genetics and biochemistry at Hampden-Sydney College in Virginia and studied the formation and transmission of prions, protein-only infectious agents that can cause disease in humans. Is your penchant for comedy inherited? I'd encourage you to stick with your studies! Francis K in NJ (12th grade student)

224

How far along are we until gene therapy is available?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. It is here now. Gene therapy is being used to cure immune disorders, metabolic disorders, hemophilia and childhood blindness. In cancer many patients have been successfully treated with gene therapy. All of this is on a limited basis, but each year more and more patients and new disorders are being treated with gene therapy. Palms Middle School in CA (7th grade student)

225

How did you know that the DNA was so long?      Bruce Korf, M.D., Ph.D.: I am a medical geneticist and serve as chair of the Department of Genetics at the University of Alabama at Birmingham. My major area of focus is diagnosis and treatment of neurogenetic disorders, especially neurofibromatosis. Iým also involved in initiatives to integrate genetics and genomics into medicine. The average length of a DNA strand is 6 feet! One way this is known is by determining how much DNA is in a single chromosome, and by showing that genes along a given chromosome are all linked, one to another, telling us that each chromosome consists of a single long strand of DNA. Westview High School in CA (9th grade student)

226

How many different forms of cancer have been discovered?      Lucia Hindorff, Ph.D., M.P.H.: I am currently working with a number of investigators around the country on a program that is designed to take the most promising genetic variants from recent studies and learn more about them in large populations with extensive data. I'm hoping to learn more about the different pathways that these variants are involved in and possibly identify some environmental factors that may modify disease associations. Also. I am one of the curators of the National Human Genome Research Institute Genome-Wide Association studies Catalog, a summary of findings from published genome-wide association studies. There have been over 200 different types of cancer identified but most of them are not very common. There are probably about a dozen that are considered "common" cancers. Riverside High School in PA (10th grade student)

227

Is diabetes hereditary?      Kelle Steenblock, M.S., C.G.C.: I am the Senior VP of clinical services at Informed Medical Decisions. I oversee five teams of genetic counselors providing clinical services in cancer, reproductive, neuro, ocular and cardiac genetics. I also actively provide telephone clinical genetic counseling for both reproductive and cancer genetics. There are genetic factors that can contribute to the development of diabetes. If you have a family history of Type II, late-onset diabetes you are more likely to develop if yourself. However, there are also many environmental factors that contribute to your risk for diabetes (including diet, exercise and overall weight). Type I diabetes, early onset is less often associated with a family history of the disease. Riverside High School in PA (10th grade student)

228

What is the best way to celebrate DNA day?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. How about having your teacher say "Class Dismissed"? Then you guys could go outside and observe all that different kinds of animals and plants in the world. All of those organisms owe their unique properties to DNA. Palms Middle School in CA (7th grade student)

229

Do DNA mutations get passed down through generations?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. Yes. If you have a mutation in a sperm or egg cell, it can be passed along to the next generation. Palms Middle School in CA (7th grade student)

230

Is ADHD an inheritable trait?      Anne Madeo, M.S.: I have an M.S.in Human Genetics from the University of Michigan and currently working at the NIH as a genetic counselor since 2000. ýShe is currently the Associate Director of the Johns Hopkins University/NHGRI Genetic Counseling Training Program. ADHD is probably what we call a complex trait. That means it is the result of a combination of genetics and environment. There are certainly genes that can make a person more susceptible to ADHD. The current thinking is that genes make a more significant contribution to the development of ADHD than does environment. An NHGRI researcher, Max Muenke, is currently investigating the genetics of ADHD, so scientists are asking the same questions as you! Riverside High School in PA (10th grade student)

231

Why did you choose to pick your career involving DNA and Genetics?      Bruce Korf, M.D., Ph.D.: I am a medical geneticist and serve as chair of the Department of Genetics at the University of Alabama at Birmingham. My major area of focus is diagnosis and treatment of neurogenetic disorders, especially neurofibromatosis. Iým also involved in initiatives to integrate genetics and genomics into medicine. I became exposed to genetics as a high school student. I saw in the field the opportunity to closely link clinical and research activity and saw it as an area that was likely to see major growth in the coming years. That certainly turned out to be true, though I could never have guessed at the time how much progress would be made in a relatively short time, especially with the sequencing of the human genome. Palms Middle School in CA (7th grade student)

232

Can you clone humans withought malfunctions in the future?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. Maybe, but I doubt it. The UN and many countries have strict bans on human cloning research. What we know from cloning animals is that the clones are not completely normal. Many of them seem to age prematurely. Palms Middle School in CA (7th grade student)

233

Has viral DNA been put into other organisms before?      Mike Dougherty, B.A., Ph.D.: I am currently the director of educational activities for the American Society of Human Genetics (www.ashg.org/education). Before joining ASHG, I taught genetics and biochemistry at Hampden-Sydney College in Virginia and studied the formation and transmission of prions, protein-only infectious agents that can cause disease in humans. Yes, viral DNA finds its way into other organisms in at least two way. First, it is introduced naturally into other organisms because many viruses have evolved to infect certain species. In fact, most organisms, even bacteria, are targets for viral infection. Second, researchers will put viruses into organisms to study the infection process and to try to develop vaccines or other treatments. Westview High School in CA (9th grade student)

234

What are some common mutations in DNA?      Bruce Korf, M.D., Ph.D.: I am a medical geneticist and serve as chair of the Department of Genetics at the University of Alabama at Birmingham. My major area of focus is diagnosis and treatment of neurogenetic disorders, especially neurofibromatosis. Iým also involved in initiatives to integrate genetics and genomics into medicine. There are many kinds of mutations in DNA. Some of the most common are changes of single DNA bases - any two individuals will differ at a base every thousand or so. The other major form of DNA change is the copy number variation, where there are differences in the number of copies of particular sequences from one individual to the next. Both account for many of the genetic differences between individuals, including differences that account for physical traits or risk of disease. Palms Middle School in CA (7th grade student)

235

Is the DNA in the mitochondria differant from the DNA in the nucleus?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. Yep. The DNA in the nucleus comes from the sperm or egg nuclei. Your mitochondria are all from the egg (your mother). Sperm have no mitochondria. We need mitochondrial DNA because it encodes some important genes that are not in the nuclear DNA. Palms Middle School in CA (7th grade student)

236

What is gene therapy and how would it be used as a treatment for cancer?      Kelle Steenblock, M.S., C.G.C.: I am the Senior VP of clinical services at Informed Medical Decisions. I oversee five teams of genetic counselors providing clinical services in cancer, reproductive, neuro, ocular and cardiac genetics. I also actively provide telephone clinical genetic counseling for both reproductive and cancer genetics. Gene therapy involves putting genetic material into a persons cells to either prevent disease or help treat that disease. Research in the area of cancer treatment with gene therapy is being done. Replacing genes that are not working at the cell level with ones that function normally is one way scientists are trying to treat and prevent cancer with gene therapy. Westview High School in CA (9th grade student)

237

How expensive is biotechnology?      Mike Dougherty, B.A., Ph.D.: I am currently the director of educational activities for the American Society of Human Genetics (www.ashg.org/education). Before joining ASHG, I taught genetics and biochemistry at Hampden-Sydney College in Virginia and studied the formation and transmission of prions, protein-only infectious agents that can cause disease in humans. That's a hard question to answer because the range is so wide. Some biotechnology can be done in high school biology classrooms, maybe even your own! Other biotechnology projects cost millions of dollars. The Human Genome Project cost about 3.7 billion dollars, and it took ten years to complete. Westview High School in CA (9th grade student)

238

Has there ever been a time that you were afraid to answer the question if someone had cancer or not?      Anne Madeo, M.S.: I have an M.S.in Human Genetics from the University of Michigan and currently working at the NIH as a genetic counselor since 2000. ýShe is currently the Associate Director of the Johns Hopkins University/NHGRI Genetic Counseling Training Program. I think it's hard for all health care professionals to deliver a difficult diagnosis. There are times when receiving a diagnosis, even a 'bad' one, is better than not having one. A diagnosis can validate a patient's experience of feeling sick. It can help a doctor identify a successful treatment. Finally, a diagnosis can lead to a more accurate prognosis. Brownsville Area High School in PA (9th grade student)

239

Do you think cloning is a good idea?If so why?      Lauren Doyle, M.S.: I am currently split between prenatal (clinical and research), neurology and cancer clinics, so I see a broad base of patients on a weekly basis. In addition, I have completed a number of lectures and in-classroom activities about basic genetics to local schools and for other health professionals. I think there are a number of ethical issues regarding cloning that make it a difficult scientific process to navigate. Personally, I think we might be better off focusing our efforts on streamlining the process generating organs, skin, etc, through stem cells than on cloning. Palms Middle School in CA (7th grade student)

240

What is that .1% that makes each individual different?      Kelle Steenblock, M.S., C.G.C.: I am the Senior VP of clinical services at Informed Medical Decisions. I oversee five teams of genetic counselors providing clinical services in cancer, reproductive, neuro, ocular and cardiac genetics. I also actively provide telephone clinical genetic counseling for both reproductive and cancer genetics. You are correct all humans are 99.9% identical in their DNA sequence. That 0.1% is what makes us all unique and different. Because each individual is different and unique in so many ways, this fact illustrates just how large out genetic code is, if all those differences only account for 0.1% of our overall DNA. Westview High School in CA (9th grade student)

241

What is the length of DNA?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. There are 3 billion bases in the DNA in a single cell. If you stretch out the DNA in your whole body (about a billion cells) it would reach all the way past the sun which is 93 million miles away. That is over 100 yards per cell. Riverside High School in PA (10th grade student)

242

Are the Japanese being affected by the radiation, or is their DNA being mutataed?      Bruce Korf, M.D., Ph.D.: I am a medical geneticist and serve as chair of the Department of Genetics at the University of Alabama at Birmingham. My major area of focus is diagnosis and treatment of neurogenetic disorders, especially neurofibromatosis. Iým also involved in initiatives to integrate genetics and genomics into medicine. Undoubtedly the Japanese people have been profoundly affected by the aftermath of the earthquake and tsunami. There is clearly concern about risks due to exposure to radiation from the damaged nuclear plants, though it may be too soon to know how significant this will be except for workers with very high exposures. Radiation exposure does have the capability of mutating DNA, though it should be noted that much of the DNA damage is repaired through natural processes in each cell. Palms Middle School in CA (7th grade student)

243

What are some mutations caused by radiation?      Mike Dougherty, B.A., Ph.D.: I am currently the director of educational activities for the American Society of Human Genetics (www.ashg.org/education). Before joining ASHG, I taught genetics and biochemistry at Hampden-Sydney College in Virginia and studied the formation and transmission of prions, protein-only infectious agents that can cause disease in humans. Radiation causes several types of mutations, but two of the most common are thymine-thymine dimers, which are often caused by sunlight (ultraviolet light), and double-strand breaks. It's worth remembering that many, perhaps most, mutations occur naturally as DNA replicates, but the vast majority of mutations are repaired before they cause harm. Palms Middle School in CA (7th grade student)

244

what happens to your DNA when you smoke or drink?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. Well, chemicals in the smoke or drink can cause changes or damage to the DNA. Changes or damage to DNA is called mutations. In more scientific terms the dangerous substances in smoke etc. are mutagens. The changes or DNA damage can cause a cell to become a cancer cell. Palms Middle School in CA (7th grade student)

245

Who discovered how to clone?      Bruce Korf, M.D., Ph.D.: I am a medical geneticist and serve as chair of the Department of Genetics at the University of Alabama at Birmingham. My major area of focus is diagnosis and treatment of neurogenetic disorders, especially neurofibromatosis. Iým also involved in initiatives to integrate genetics and genomics into medicine. In part the answer may depend on what you mean by "clone." The terms is used to describe isolation and purification of single DNA sequences as well as development of animals and plants from single cells. In some respects, cloning of plants is a natural process and has been going on for a very long time. Some of the more modern experimental efforts at cloning were not developed by any one individual, but represent the gradual development of techniques to which many have contributed. Palms Middle School in CA (7th grade student)

246

What do you know about the human genome project?      Mike Dougherty, B.A., Ph.D.: I am currently the director of educational activities for the American Society of Human Genetics (www.ashg.org/education). Before joining ASHG, I taught genetics and biochemistry at Hampden-Sydney College in Virginia and studied the formation and transmission of prions, protein-only infectious agents that can cause disease in humans. There's WAY too much information to report in the short time we have. The NHGRI has a great Web site with all you could ever want to know: http://www.genome.gov/10001772 Palms Middle School in CA (7th grade student)

247

What will come of DNA in the future?      Bruce Korf, M.D., Ph.D.: I am a medical geneticist and serve as chair of the Department of Genetics at the University of Alabama at Birmingham. My major area of focus is diagnosis and treatment of neurogenetic disorders, especially neurofibromatosis. Iým also involved in initiatives to integrate genetics and genomics into medicine. If you are asking about where research on DNA is going, no one knows for sure, but we are hopeful that we will be able to understand in great detail how genetic information that is encoded in DNA is processed and regulated to result in both normal and abnormal development. We expect that DNA-based approaches will contribute in a major way to improvement of the quality of health care in the coming years. Palms Middle School in CA (7th grade student)

248

What does the human genome project have to do with us?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. The human genome is you! We are understanding our genome and that we we are learning about how we are who we are. We're learning why we are well and why we get sick. We are learning about who our ancestors are and what our children will look like. The HGP has really accellerated research and new treatments for disease. Palms Middle School in CA (7th grade student)

249

There's a lot of talk about genomics for personalized medicine but it seems like a lot of the information we know about only applies to certain ethnicities, ie, more studies done on Caucasians than Asians or mixed race. What do you think it'll take to get more ethnic groups involved in the studies to get to the point where personalizing your medical care via DNA is plausible for everyone?      Kelle Steenblock, M.S., C.G.C.: I am the Senior VP of clinical services at Informed Medical Decisions. I oversee five teams of genetic counselors providing clinical services in cancer, reproductive, neuro, ocular and cardiac genetics. I also actively provide telephone clinical genetic counseling for both reproductive and cancer genetics. Historically more was known about ethnic groups that were more genetically similar (Ashkenazi Jewish is a great example of this). Currently, studies on all ethnicities are being done and more tests are becoming available specific to each ethnic background. The most important aspect of personalized medicine still is your own family history. Having a family history of a disease is your biggest indicator of your risk. That in combination with your ethnic background are tools a genetic counselor can use to help provide personalized risk assessment information and recommendations for personalized healthcare. Risa in WA ()

250

Is there evil DNA? For example, does Osama bin Laden have evil DNA?      Amy Gaviglio, M.S., C.G.C.: I am a genetic counselor at the MN Department of Health. I work in the newborn screening program and am involved in education surrounding public health genetics and ethics. There have been many studies looking at whether certain genes or mutations lead to violence or "evilness." Currently, there is no evidence that there is "evil DNA." Violence and evilness are likely due largely to an individual's surroundings and environment. Gus Cohan in NJ (9th grade student)

251

What was the first clone?      Dani Bishay, M.S., C.G.C.: I work in a comprehensive genetics department where I see patients in a pediatric, and prenatal setting as well as help interpret abnormal genetic results in a laboratory setting. Dolly was a female domestic sheep, and the first mammal to be cloned from an adult somatic cell, using the process of nuclear transfer. Palms Middle School in CA (7th grade student)

The American Society of Human Genetics (ASHG) has just announced the winners of its annual National DNA Day Essay Contest. This year, high school students had a choice of answering two questions: Question 1: In 2010, a major discovery in genetics research found that the DNA of some modern humans contains small amounts of Neanderthal DNA. Briefly explain this finding and discuss its relevance to human ancestry and evolution. Question 2: A number of companies offer genetic testing directly to consumers, bypassing the involvement of physicians and genetic counselors. Discuss whether you think this is a good idea or not. You might focus on medical, ethical, legal, or social dimensions of this issue. The 2011 DNA Day Essay Contest winners are: For Question 1   Student Grade School City / State Teacher 1st Place Josephine (Josie) Benson 10 Bowling Green High School Bowling Green, OH Hans Glandorff 2nd Place Nathan Swetlitz 10 Naperville Central High School Naperville, IL Nicholas DiGiovanni 3rd Place Michael Zhang 10 Smithtown High School East Smithtown, NY Maria Zeitlin Trinkle For Question 2   Student Grade School City / State Teacher 1st Place Heba Bhat 9 East Chapel Hill High School Chapel Hill, NC Judith Jones 2nd Place Julia Kroll 11 James Madison Memorial High School Madison, WI Cindy Kellor 3rd Place Julianna Hsing 11 Winston Churchill High School Potomac, MD Anat Schwartz First place winners will each receive $400 and their teachers will each get a $2,000 grant for laboratory genetics equipment. Second place winners will each receive $250. Third place winners will each receive $150. For complete details, visit: http://www.ashg.org/education/dnadaycontest.shtml. Congratulations to all the winners and thank you all for participating. Happy DNA Day!

253

When DNA splits and become RNA why does one of the nitrogen bases become uracil?      Mike Dougherty, B.A., Ph.D.: I am currently the director of educational activities for the American Society of Human Genetics (www.ashg.org/education). Before joining ASHG, I taught genetics and biochemistry at Hampden-Sydney College in Virginia and studied the formation and transmission of prions, protein-only infectious agents that can cause disease in humans. Well, DNA doesn't split and become RNA. When DNA is transcribed, the double helix splits, RNA polymerase reads the DNA, and the polymerase enzyme builds a strand of RNA. Uracil, a nucleotide, is inserted into the growing RNA strand; thymine doesn't become uracil. Palms Middle School in CA (7th grade student)

254

Why does arginine have six codons and methionine has only one?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. Because the genetic code is degenerate. there are 64 possible combinations and only 20 amino acids, so some will have to be represented more than once. Nobody knows why there are different numbers of tRNAs, but the theory of evolution predicts that is is a random event. University of Molecular biology and bioinformatics (Higher Education )

255

A mutation is in fact an adaption. What do you think?      David Bodine, M.D., Ph.D.: I currently investigate the genetics of pluripotent hematopoietic stem cells (PHSCs) to improve the effectiveness of bone marrow transplantation and to find better ways to use these unique cells for gene replacement therapy. I'm also studying diseases that interfere with the ability of the stem cells to differentiate into red blood cells. It can be. If it is adaptive, it will be selected for. A deleterious mutation will be selected against. Both are mutations. University of Molecular biology and bioinformatics (Higher Education )

256

How many years of school do you need to work in this field?      Robin Troxell, M.S., C.G.C.: I am a pediatric and prenatal genetic counselor. I have a special interest in perinatal hospice. As a genetic counselor, you need a four year undergraduate degree (bachelors) in a related field - biology, chemistry, genetics, and psychology are some options. Then, you need a 2 year Master's degree in genetic counseling from one of the accredited programs. Check out www.NSGC.org for more information! Westview High School in CA (9th grade student)

257

Are we ever going to save lives with cloning?      Robin Troxell, M.S., C.G.C.: I am a pediatric and prenatal genetic counselor. I have a special interest in perinatal hospice. We are not going to save a person's life by cloning, or duplicating, that individual. However, cloning techniques are used in research today in stem cell therapies that are able to save lives - bone marrow transplants for babies with some genetic conditions such as SCID and Krabbe, for example. Palms Middle School in CA (7th grade student)

258

Can a human be mutated and get superpowers?      Mike Dougherty, B.A., Ph.D.: I am currently the director of educational activities for the American Society of Human Genetics (www.ashg.org/education). Before joining ASHG, I taught genetics and biochemistry at Hampden-Sydney College in Virginia and studied the formation and transmission of prions, protein-only infectious agents that can cause disease in humans. I wish! However, that's not really possible. Mutations can be harmful, neutral, or beneficial. The harmful ones can cause inherited disease or cancer, and the beneficial ones can lead to variations on traits that are evolutionarily beneficial. Palms Middle School in CA (7th grade student)

259

Can cloning come with side effects or deformities?      Dani Bishay, M.S., C.G.C.: I work in a comprehensive genetics department where I see patients in a pediatric, and prenatal setting as well as help interpret abnormal genetic results in a laboratory setting. Cloning animals is a very involved process. It is true that historically many attempts at cloning animals have resulted in miscarriages and birth defects. Currently, cloning is not a perfect science which may be a good thing! Palms Middle School in CA (7th grade student)

260

I have JDM (Juvenile Dermatomyositis and it is finally in remission. I wonder if there have been any discoveries in the DNA research that would help my doctor understand how I got JDM and how to cure it or at least better treat it than with all those steroids.      Anne Madeo, M.S.: I have an M.S.in Human Genetics from the University of Michigan and currently working at the NIH as a genetic counselor since 2000. ýShe is currently the Associate Director of the Johns Hopkins University/NHGRI Genetic Counseling Training Program. The National Institute on Neurologic Disorders and Stroke (NINDS) has a web page about myositis that talks a bit about JDM. http://www.ninds.nih.gov/disorders/inflammatory_myopathies/detail_inflammatory_myopathies.htm Towards the bottom of the page, it talks about research on inflammatory myopathies. I encourage you to consider getting in touch with a patient support/disease advocacy group. There are some suggestions at the bottom of the NINDS web page. These organizations do a good job of keeping individuals living with the disorder connected to research. Good luck! Athens Christian Academy in TX (5th grade student)

261

What comes of a mutation in DNA or genes?      Toni Pollin, M.S., Ph.D.: I do research on the genetics of complex traits, particularly type 2 diabetes and lipid variation. I also co-direct a Ph.D. and master's training program in human genetics. In humans, much of our DNA does not encode or regulate genes, so most mutations do not have a noticeable effect on a person's health or appearance. However, if a mutation occurs in a gene and changes the structure of a protein or prevents a protein from being made, this can prevent the body from functioning properly and cause disease or a change in appearance. Palms Middle School in CA (7th grade student)

262

If cloning humans became possible, what problems could it create?      Toni Pollin, M.S., Ph.D.: I do research on the genetics of complex traits, particularly type 2 diabetes and lipid variation. I also co-direct a Ph.D. and master's training program in human genetics. Even if cloning humans because possible, there would likely be problems because adult cells contain many mutations that may not harm the adult but could harm a baby who grew from one of those cells. Also, if cloning became widespread, there would be less diversity among people and the survival of the species might be threatened. Williamsburg Middle School in VA (7th grade student)

263

What interested the founder of DNA to question the shape of DNA itself?      Mike Dougherty, B.A., Ph.D.: I am currently the director of educational activities for the American Society of Human Genetics (www.ashg.org/education). Before joining ASHG, I taught genetics and biochemistry at Hampden-Sydney College in Virginia and studied the formation and transmission of prions, protein-only infectious agents that can cause disease in humans. Curiosity and competition. James Watson and Francis Crick, the discoverers of the structure of DNA, were very interested in DNA because it had recently been proven as the molecule responsible for inheritance. Figuring out the structure seemed like a natural next step. In addition, it was one of the hottest research topics of the early 1950s, and some of the world's best scientists were trying to be the first to solve the puzzle. The desire for scientific fame can drive affects scientists too! Palms Middle School in CA (7th grade student)

264

We sequenced the human genome. But exactly whose genome?      Toni Pollin, M.S., Ph.D.: I do research on the genetics of complex traits, particularly type 2 diabetes and lipid variation. I also co-direct a Ph.D. and master's training program in human genetics. When the Human Genome Project was launched, researchers decided not to have the DNA come from any particular person. Instead, one of the researchers put an ad in the local newspaper in upstate New York and got several anonymous volunteers to donate some DNA. So, no one actually knows whose DNA was sequenced in the Human Genome Project. University of Adam Mickiewicz in Poznan (Higher Education student)

265

How many gene disorders do humans have?      Mike Dougherty, B.A., Ph.D.: I am currently the director of educational activities for the American Society of Human Genetics (www.ashg.org/education). Before joining ASHG, I taught genetics and biochemistry at Hampden-Sydney College in Virginia and studied the formation and transmission of prions, protein-only infectious agents that can cause disease in humans. There are approximately 4,000 inherited genetic disorders. Palms Middle School in CA (7th grade student)

266

What are some examples of successful gene therapy in the area of immune disorders. We have a little girl in class that was diagnosed with JDM at the age of 5 and all her friends (the entire class) is fascinated with DNA and how to cure such disorders. Thanks in advance!      Lucia Hindorff, Ph.D., M.P.H.: I am currently working with a number of investigators around the country on a program that is designed to take the most promising genetic variants from recent studies and learn more about them in large populations with extensive data. I'm hoping to learn more about the different pathways that these variants are involved in and possibly identify some environmental factors that may modify disease associations. Also. I am one of the curators of the National Human Genome Research Institute Genome-Wide Association studies Catalog, a summary of findings from published genome-wide association studies. Most gene therapy is still being explored in a research setting (such as in clinical trials). One promising recent example is of a 4-year old girl who came to NIH in 1990 with adenosine deaminase (ADA). She was treated using gene therapy and now attends school and leads a normal life. You can read more about this example here: http://history.nih.gov/exhibits/genetics/sect4.htm Athens Christian Academy in TX (5th grade teacher)

267

With respect to the Human Genome Project, what percentage of our genes do you believe will be cataloged?      Toni Pollin, M.S., Ph.D.: I do research on the genetics of complex traits, particularly type 2 diabetes and lipid variation. I also co-direct a Ph.D. and master's training program in human genetics. The Human Genome Project along with other projects such as the 1000 Genomes provides the information needed to define the function of all human genes; how thoroughly this happens depends on the efforts of scientists all over the world. Hunterdon Central Regional High School in NJ (12th grade student)

268

How do we know what DNA is made of if we cant see it?      Mike Dougherty, B.A., Ph.D.: I am currently the director of educational activities for the American Society of Human Genetics (www.ashg.org/education). Before joining ASHG, I taught genetics and biochemistry at Hampden-Sydney College in Virginia and studied the formation and transmission of prions, protein-only infectious agents that can cause disease in humans. Good question. We can't see individual DNA molecules with our naked eyes, but that doesn't mean we can't see it with technology. We can make images of DNA using high-power microscopes and X-ray diffraction. Also, we can see big gobs of DNA if we isolate a lot of it from cells, such as cheek cells or strawberry cells. Finally, chemistry enables us to determine what almost anything is made of. Isn't science awesome. Westview High School in CA (9th grade student)

269

Do you believe that human cloning is ethical?      Amy Gaviglio, M.S., C.G.C.: I am a genetic counselor at the MN Department of Health. I work in the newborn screening program and am involved in education surrounding public health genetics and ethics. Whew! This is a tough question!! The idea of human cloning has a lot of derivations - for example, it could mean cloning an entire human being, or might be the cloning of a human organ. I can see the value of cloning organs for purposes of transplants, but I am not sure that all of the ethical questions have been explored when it comes to cloning an entire human. Hunterdon Central Regional High School in NJ (11th grade student)

270

How does radiation affect our genetics?      Mike Dougherty, B.A., Ph.D.: I am currently the director of educational activities for the American Society of Human Genetics (www.ashg.org/education). Before joining ASHG, I taught genetics and biochemistry at Hampden-Sydney College in Virginia and studied the formation and transmission of prions, protein-only infectious agents that can cause disease in humans. Radiation is generally harmful for our genes because it can change the structure of DNA, including breaking the DNA strands. Those changes are called mutations and can result in inherited disease or cancer. Palms Middle School in CA (7th grade student)

271

How was DNA discovered?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. I would date finding out about DNA back to Gregor Mendel's classic studies with pea plants back in the 1800s. He mapped out patterns of inheritance of traits in the plants. Palms Middle School in CA (7th grade student)

272

Who started the first DNA Research? How did it all start?      Kris Wetterstrand, M.S.: I am the Scientific Liaison to the Director for Extramural Activities. For over ten years I have managed the National Human Genome Research Institute (NHGRI) grant portfolio, having participated in the Large-scale Sequencing Program, which managed the Human Genome Project, and the Human Microbiome Project, an effort to sequence the DNA of microbes (e.g. bacteria) that live in and on humans and the ENCODE Project, an effort to identify functional DNA elements in the human genome. Her background is in population genetics and molecular evolution. Gregor Mendel's classic studies with pea plants back in the 1800s were the start of genetics. He mapped out patterns of inheritance of traits in the plants. Westview High School in CA (9th grade student)

274

What are the side effects of the karyotype 48 XXYY?      Lucia Hindorff, Ph.D., M.P.H.: I am currently working with a number of investigators around the country on a program that is designed to take the most promising genetic variants from recent studies and learn more about them in large populations with extensive data. I'm hoping to learn more about the different pathways that these variants are involved in and possibly identify some environmental factors that may modify disease associations. Also. I am one of the curators of the National Human Genome Research Institute Genome-Wide Association studies Catalog, a summary of findings from published genome-wide association studies. 48, XXYY syndrome occurs when males have an extra X and Y chromosome. Symptoms can include tall height, learning disabilities, intellectual impairment, speech impairment, and developmental delays. Some individuals only show mild symptoms and others show stronger symptoms. Williamsburg Middle School in VA (7th grade student)

275

Does "race" have a genetic basis?      Amy Gaviglio, M.S., C.G.C.: I am a genetic counselor at the MN Department of Health. I work in the newborn screening program and am involved in education surrounding public health genetics and ethics. The relationship between race and genetics continues to be a hot topic. Some researchers have looked into using genetic markers to sort humans into groups based on ancestral origin, but variations across the human species are pretty gradual and very complex, so this appears to be difficult to do. In general, though we can see that humans are pretty genetically homogeneous and that genetic variation is largely due to geographical structures - which can be correlated with race. Hunterdon Central Regional High School in NJ (10th grade student)

276

Charlie Sheen claims to have "Adonis DNA" and "Tigers Blood". Given his lineage (and lack of stripes), I suspect he has neither. How do the experts weigh in on this?      Toni Pollin, M.S., Ph.D.: I do research on the genetics of complex traits, particularly type 2 diabetes and lipid variation. I also co-direct a Ph.D. and master's training program in human genetics. I would disagree with him and suspect the rest of geneticists would as well, although there are certainly many similarities between any of our DNA and a tiger's. FBMM in NJ (Higher Education )

277

How accurate are the current tests to determine one's athletic aptitude?      Robin Troxell, M.S., C.G.C.: I am a pediatric and prenatal genetic counselor. I have a special interest in perinatal hospice. A study published in 2003 showed that of the group tested, sprint athletes had a higher number of the R577X allele in the ACTN3 gene than controls. This also means there were sprint athletes without this allele. It suggests that the presence of this allele may have positive effect on generating forceful contractions at high velocity. It has no bearing on an individual's desire to perform, committment to training, and the absence of that allele does not preclude one from becoming an athlete. Hunterdon Central Regional High School in NJ (10th grade student)

278

What can you tell me about the human barcode project (a science competion in NY at urbanbarcodeproject.org)?      Mike Dougherty, B.A., Ph.D.: I am currently the director of educational activities for the American Society of Human Genetics (www.ashg.org/education). Before joining ASHG, I taught genetics and biochemistry at Hampden-Sydney College in Virginia and studied the formation and transmission of prions, protein-only infectious agents that can cause disease in humans. All I know about the project is what I just learned reading the Web site. However, there are a number of international projects that attempt to do something similar by cataloging human genetic diversity. What we already know is that there is more similarity than difference across the humans from many different populations. University of Molecular biology and bioinformatics (Higher Education )

279

How is animal cloning useful and who benefits from it?      Toni Pollin, M.S., Ph.D.: I do research on the genetics of complex traits, particularly type 2 diabetes and lipid variation. I also co-direct a Ph.D. and master's training program in human genetics. Animal cloning could be useful if, for example, a particular cow produces milk from which an effective drug is derived. Successfully cloning that cow many times would assure that a large amount of that drug could be produced, allowing many sick people to benefit. McDowell Intermediate High School in PA (10th grade student)

280

When was the first clone created?      Belen Hurle, Ph.D.: The focus of my research is to study primate genomes as a means to enhance our understanding of human evolutionary biology. If you are talking about the first mammal, that would be Dolly the sheep. Dolly was cloned from the cell of an adult sheep. She was born on 5 July 1996 and she lived until the age of six. Palms Middle School in CA (7th grade student)

281

What are some dangers of genetic engineering?      Amy Gaviglio, M.S., C.G.C.: I am a genetic counselor at the MN Department of Health. I work in the newborn screening program and am involved in education surrounding public health genetics and ethics. In the realm of agriculture, there are some scientists that believe that genetic engineering threatens wildlife, alters natural habitats, and may create unanticipated effects. With human genetic engineering, some concerns include not fully understanding the role of all genes and their interactions - so, again, unintended consequences could occur. Williamsburg Middle School in VA (7th grade student)

282

My mother has had two heart attacks and bypass surgery at 48. My great mother had a pacemaker and died at 76. My great mothers sibling all died of heart related ilnesses. My father died at 38 of a heart attack. My maternal grandfather died of a heart attack at 78. I am 15 and already have high blood pressure and also I have a thyroid problem. What do I have to think about health-wise? I feel fine.      Flavia Facio, M.S.: I am a Certified Genetic Counselor who spent over three years working in the field of cancer genetics at Memorial Sloan-Kettering Cancer Center in New York City. ýIn 2004, I came to the NHGRI where I have been working primarily on a study investigating the feasibility of providing large scale medical sequencing to adult individuals who are healthy volunteers for the most part. ýI am also involved with training and teaching genetic counseling students, and an active member of the National Society of Genetic Counselors. ýý Hi! Our family histories can give us some information about diseases we may be more likely to develop as we grow older. It is great that you are paying attention to yours! There are different reasons for people to develop heart disease at younger ages, as in the case of your parents. One of these reasons is related to high levels of cholesterol. The best approach to learn more about your risk would be for your mother to meet with a genetics professional, such as a genetic counselor, who could gather information about the family history and determine if any genetic testing is recommended. There may or may not be a major genetic component to your family history. You can find more information about genetic counselors in your area by going to www.nsgc.org. Beyond genetic factors, it is also important to pay attention to environmental factors, such as diet and exercise. I hope this helps. Thank you for your question and for sharing your family history with us! Briarcrest Christian High School in TN (10th grade student)

283

How are animals being genetically manipulated?      Mike Dougherty, B.A., Ph.D.: I am currently the director of educational activities for the American Society of Human Genetics (www.ashg.org/education). Before joining ASHG, I taught genetics and biochemistry at Hampden-Sydney College in Virginia and studied the formation and transmission of prions, protein-only infectious agents that can cause disease in humans. Animals used in medical research studies are essential models for studying human disease, so they are being genetically manipulated in several ways. For example, by mutating a gene found in both humans and mice, we can learn what that gene does. This has helped us understand a tremendous amount about health and disease. Some animals have also been modified for agricultural purposes. Please keep in mind that the genetic manipulation of animals and plants began thousands of years ago. Every time a breeder specifically mates one animal with another for the purpose of highlighting a specific trait (e.g., fetching a ball), he or she is practicing genetic engineering. Williamsburg Middle School in VA (7th grade student)

Now entering the chat is Belen Hurle. She studies primate genomes as a means to enhance our understanding of human evolutionary biology.

285

Since we know more about DNA, are we able to cure diseases?      Lucia Hindorff, Ph.D., M.P.H.: I am currently working with a number of investigators around the country on a program that is designed to take the most promising genetic variants from recent studies and learn more about them in large populations with extensive data. I'm hoping to learn more about the different pathways that these variants are involved in and possibly identify some environmental factors that may modify disease associations. Also. I am one of the curators of the National Human Genome Research Institute Genome-Wide Association studies Catalog, a summary of findings from published genome-wide association studies. Yes - knowing about DNA and what the human genome sequence is has led to a greater understanding of what genes and genetic variants cause disease. We can then better prevent or treat diseases which result in improved human health. There are new genetic variants that are continuously being discovered for wide range of human diseases, so stay tuned for even more exciting discoveries to come! Palms Middle School in CA (7th grade student)

286

Bacteria have proteins for compacting DNA (something like histone). Are they modified?      Mike Dougherty, B.A., Ph.D.: I am currently the director of educational activities for the American Society of Human Genetics (www.ashg.org/education). Before joining ASHG, I taught genetics and biochemistry at Hampden-Sydney College in Virginia and studied the formation and transmission of prions, protein-only infectious agents that can cause disease in humans. Bacterial proteins, in general, have similar chemical modifications as eukaryotic proteins. Research on the structure of nucleoid proteins is ongoing, and much about the chemistry is still not well understood. However, we do know that bacterial nucleoid proteins can regulate gene expression by directly binding to RNA, which is different from how eukaryotic histone proteins regulate gene expression. Vilnius University (Higher Education student)

Now entering the chat is Flavia Facio. She is a Certified Genetic Counselor who spent over three years working in the field of cancer genetics at Memorial Sloan-Kettering Cancer Center in New York City.

288

Can we ever mix human DNA with animal DNA or is it impossible?      Amy Gaviglio, M.S., C.G.C.: I am a genetic counselor at the MN Department of Health. I work in the newborn screening program and am involved in education surrounding public health genetics and ethics. In 2008, a British research team created "admixed embroys" - embroys containing human and animal material. They added human DNA to empty cow eggs - though this is mixing human and animal material, the DNA in the embryo is still about 99.9% human. Scientists have also created pigs with human blood, but this is not necessary mixing DNA. Palms Middle School in CA (7th grade student)

289

Can you use genetics to jump higher?      Mike Dougherty, B.A., Ph.D.: I am currently the director of educational activities for the American Society of Human Genetics (www.ashg.org/education). Before joining ASHG, I taught genetics and biochemistry at Hampden-Sydney College in Virginia and studied the formation and transmission of prions, protein-only infectious agents that can cause disease in humans. Genetics can certainly affect how high you can jump, but that's not the same as saying you can 'use' genetics to jump higher. Genetics affect most traits, but so does the environment. Even if your genes aren't ideal for jumping high, there are lots of exercises that will improve your ability. The same is true for many physical and behavioral traits. However, there is no way to change your genetics to make you jump higher. Peru High School in IN (9th grade student)

290

How do we get those who aren't studying biology interested in learning more about DNA and Genetics?      Angela Filose, M.S.: I am a genetic counselor, working primarily with pregnant patients as well as families with children that have genetic disorders. I help to gather family history information, explain test results and guide families when a diagnosis is made. I think the most important way to get students more interested in learning about Genetics is to emphasize how interesting the subject is! The study of Genetics affects every person on this planet in some way. We need to make this study be really personal, so that any student can see how important it is to learn more about Genetics. We also need to encourage specialists in Genetics to go to schools at all levels to share their love for the study of Genetics. Winona State University in MN (Higher Education student)

291

What happens if a woman has an extra X and how would this effect her?      Robin Troxell, M.S., C.G.C.: I am a pediatric and prenatal genetic counselor. I have a special interest in perinatal hospice. A 47,XXX woman has Triple X. This is a fairly common condition (about 1/1000 female births). A woman with an extra X chromosome in each cell may be slightly taller than average but should have no other unusual features or birth defects. As children they may have some delays in development in both physical (sitting, walking) and speech areas. Up to 10% of girls will have more severe learning problems, seizures, and kidney problems. Palms Middle School in CA (7th grade student)

292

What is an Ashkenazi Jew?      Lucia Hindorff, Ph.D., M.P.H.: I am currently working with a number of investigators around the country on a program that is designed to take the most promising genetic variants from recent studies and learn more about them in large populations with extensive data. I'm hoping to learn more about the different pathways that these variants are involved in and possibly identify some environmental factors that may modify disease associations. Also. I am one of the curators of the National Human Genome Research Institute Genome-Wide Association studies Catalog, a summary of findings from published genome-wide association studies. Ashkenazi Jews have a particular ethnic and religious affiliation; they are of Eastern European heritage. L V Hightower High School in TX (12th grade teacher)

293

Who were the first people to discover DNA mutations?      Belen Hurle, Ph.D.: The focus of my research is to study primate genomes as a means to enhance our understanding of human evolutionary biology. I am going to guess Thomas Hunt Morgan. He was an American Evolutionary biologist who in 1910 noticed a white-eyed mutant Drosophila male among the red-eyed wild types. That jump-started the use of Drosophila as a one of the most successful model organisms in genetics. Morgan was the first person to be awarded the Nobel Prize in Physiology or Medicine for his work in genetics. Palms Middle School in CA (7th grade student)

294

Are any of you familiar with the movie My Sister's Keeper and if so is this possible today?      Amy Gaviglio, M.S., C.G.C.: I am a genetic counselor at the MN Department of Health. I work in the newborn screening program and am involved in education surrounding public health genetics and ethics. I am aware of this movie! The idea of conceiving a child to serve as a matched donor is actually not a new one. In 2002, a UK couple fought to be granted permission to select an embryo that was genetically matched to their son with thalassemia, so that child could be used as a donor. Something similar also occurred in the US with a child who had Fanconi anemia, and whose parents had a child to provide bone marrow. Like any movie, though, this one had added twists and drama to make it more interesting. :) Hightower High School in TX (12th grade teacher)

295

Have there been experiments in human/primate hybrids?      Mike Dougherty, B.A., Ph.D.: I am currently the director of educational activities for the American Society of Human Genetics (www.ashg.org/education). Before joining ASHG, I taught genetics and biochemistry at Hampden-Sydney College in Virginia and studied the formation and transmission of prions, protein-only infectious agents that can cause disease in humans. First, keep in mind that humans are primates, and we do test new drugs, etc., in humans, which is a form of human experimentation. However, there is no such thing as a human/non-human primate hybrid. The Children's Home of Reading in PA (11th grade student)

296

Does depression have a genetic basis?      Flavia Facio, M.S.: I am a Certified Genetic Counselor who spent over three years working in the field of cancer genetics at Memorial Sloan-Kettering Cancer Center in New York City. ýIn 2004, I came to the NHGRI where I have been working primarily on a study investigating the feasibility of providing large scale medical sequencing to adult individuals who are healthy volunteers for the most part. ýI am also involved with training and teaching genetic counseling students, and an active member of the National Society of Genetic Counselors. ýý Depression, like many other types of mental illnesses, is what we call a complex condition. This means that both genetic and environmental factors play a role. Studies have found that relatives of individuals with mental illness are more likely to develop mental illness themselves. But it is not certain that they will develop it. This tell us that there is a genetic component, but other factors play a role as well. Hope this helps! Hunterdon Central Regional High School in NJ (10th grade student)

297

How many different genes are on the X Chromosome?      Robin Troxell, M.S., C.G.C.: I am a pediatric and prenatal genetic counselor. I have a special interest in perinatal hospice. OMIM currently lists 715 known genes on the X chromosome, with descriptions of over 600. Williamsburg Middle School in VA (7th grade student)

298

What was the first thing to be cloned?      Angela Filose, M.S.: I am a genetic counselor, working primarily with pregnant patients as well as families with children that have genetic disorders. I help to gather family history information, explain test results and guide families when a diagnosis is made. When we talk about "cloning" of an organism, we're referring to producing populations of genetically identical individuals from a previous organism. This was originally done in both plants and single-celled organisms many decades ago. If you are asking about the first cloned mammal, this would be Dolly the sheep, in 1996. This was a huge news story. Palms Middle School in CA (7th grade student)

299

How will knowledge of DNA be able to change people's lives?      Lucia Hindorff, Ph.D., M.P.H.: I am currently working with a number of investigators around the country on a program that is designed to take the most promising genetic variants from recent studies and learn more about them in large populations with extensive data. I'm hoping to learn more about the different pathways that these variants are involved in and possibly identify some environmental factors that may modify disease associations. Also. I am one of the curators of the National Human Genome Research Institute Genome-Wide Association studies Catalog, a summary of findings from published genome-wide association studies. Knowing the human genome sequence is one way to understand the biology of what makes people healthy or sick. For example, we can identify particular changes in DNA sequence that are associated with a disease and then study how that genetic sequence impacts health of an individual. It may be involved in the disease-causing pathway, or maybe it affects what medications a person should or shouldn't take. This is just one example of many - new discoveries are being made all of the time! Palms Middle School in CA (7th grade student)

300

Who was the first person to clone something?      Toni Pollin, M.S., Ph.D.: I do research on the genetics of complex traits, particularly type 2 diabetes and lipid variation. I also co-direct a Ph.D. and master's training program in human genetics. The first animal to be cloned was a tadpole in 1952 by Robert Briggs and Thomas King. The first mammal to be cloned was a sheep (Dolly) in 1996 by Ian Wilmut and colleagues. Palms Middle School in CA (7th grade student)

301

When scientists first sequenced the entire human genome ,whose DNA was used?      Toni Pollin, M.S., Ph.D.: I do research on the genetics of complex traits, particularly type 2 diabetes and lipid variation. I also co-direct a Ph.D. and master's training program in human genetics. When the Human Genome Project was launched, researchers decided not to have the DNA come from any particular person. Instead, one of the researchers put an ad in the local newspaper in upstate New York and got several anonymous volunteers to donate some DNA. So, no one actually knows whose DNA was sequenced in the Human Genome Project. Palms Middle School in CA (7th grade student)

302

Why does tanning in a tanning booth increase your risk of developing skin cancer?      Lucia Hindorff, Ph.D., M.P.H.: I am currently working with a number of investigators around the country on a program that is designed to take the most promising genetic variants from recent studies and learn more about them in large populations with extensive data. I'm hoping to learn more about the different pathways that these variants are involved in and possibly identify some environmental factors that may modify disease associations. Also. I am one of the curators of the National Human Genome Research Institute Genome-Wide Association studies Catalog, a summary of findings from published genome-wide association studies. Exposure to UV radiation in a tanning booth can damage the DNA in your skin cells, leading to skin cancer. Williamsburg Middle School in VA (7th grade student)

303

If DNA contains all of our traits will DNA eventually be able to create a new human or organism?      Robin Troxell, M.S., C.G.C.: I am a pediatric and prenatal genetic counselor. I have a special interest in perinatal hospice. All organisms are constantly evolving - humans will continue to evolve and change but I doubt we will ever label ourselves as a "new" organism. Palms Middle School in CA (7th grade student)

304

Without genes, what would happen to us?      Robin Troxell, M.S., C.G.C.: I am a pediatric and prenatal genetic counselor. I have a special interest in perinatal hospice. We would not exist - our genes are needed to tell our bodies how to grow and develop. Palms Middle School in CA (7th grade student)

305

Students/society put so much emphasis on visible traits (skin color, hair color, eye color). What percentage of our genes relate to these traits versus the more important physiological traits?      Mike Dougherty, B.A., Ph.D.: I am currently the director of educational activities for the American Society of Human Genetics (www.ashg.org/education). Before joining ASHG, I taught genetics and biochemistry at Hampden-Sydney College in Virginia and studied the formation and transmission of prions, protein-only infectious agents that can cause disease in humans. We don't have enough understanding of the genome to answer your question precisely, but your point is excellent. We do tend to place too much emphasis on superficial traits. Studies of human variation from populations around the world have shown that there is more genetic variation within populations than between them. In other words, we are far more alike (more than 99%) than we are different. Seems like judging people on the content of their character would be better than judging them on the basis of skin or hair color. McDowell Intermediate High School in PA (10th grade teacher)

306

Have you actually ever seen a DNA molecule?      Belen Hurle, Ph.D.: The focus of my research is to study primate genomes as a means to enhance our understanding of human evolutionary biology. Hey, if you want to see DNA with your naked eye, it is easy! Just go to http://www.youtube.com/watch?v=hOpu4iN5Bh4 to learn from the director of our institute, Dr Eric Green, how to extract DNA from a strawberry in 5 minutes, using common house products. Individual DNA molecules are too tiny to be seen at home, but it is still cool to see and touch DNA sitting at your kitchen's table. Palms Middle School in CA (7th grade student)

307	Can we bring back the dead with the help of DNA?      Robin Troxell, M.S., C.G.C.: I am a pediatric and prenatal genetic counselor. I have a special interest in perinatal hospice. No. And this would not be ethically correct. Palms Middle School in CA (7th grade student)

308

Why do we have DNA?      Robin Troxell, M.S., C.G.C.: I am a pediatric and prenatal genetic counselor. I have a special interest in perinatal hospice. DNA is a very long molecule made up of repeating units called nucleotides. The backbone of the nucleotides is the same, but the "bases" attached to the backbone can change. There are four different bases, (A,C,G,T) and that is where all the genetic information for making an organism resides. Without DNA, we would not have a way for our bodies to know how to grow and develop, or a way to reproduce. Riverside High School in PA (10th grade student)

309

What are some diseases that can be cured with gene therapy?      Toni Pollin, M.S., Ph.D.: I do research on the genetics of complex traits, particularly type 2 diabetes and lipid variation. I also co-direct a Ph.D. and master's training program in human genetics. Some diseases which have been cured (or shown improvement) with gene therapy include severe combined immunodeficiency disorder, X-linked chronic granulomatous disease, some cancers, and Leber's congenital amaurosis (a form of childhood blindness). Palms Middle School in CA (7th grade student)

310

What do you belive is the most promising societal contribution for genetic engineering?      Amy Gaviglio, M.S., C.G.C.: I am a genetic counselor at the MN Department of Health. I work in the newborn screening program and am involved in education surrounding public health genetics and ethics. Genetic engineering has shown societal promises an a number of fronts, including helping with worldwide food shortages and the potential for disease prevention and/or eradication. Hunterdon Central Regional High School in NJ (11th grade student)

311

How close are we to preventing cancer by changing our DNA?      Robin Troxell, M.S., C.G.C.: I am a pediatric and prenatal genetic counselor. I have a special interest in perinatal hospice. Current cancer research is more focused on developing medications that are targeted to the particular kind of cancer, rather than changing our own DNA. It would be impossible to change the DNA in every one of our cells. Palms Middle School in CA (7th grade student)

312

Is it possible for a person to be cured of a genetic disease through changing their DNA after birth?      Lucia Hindorff, Ph.D., M.P.H.: I am currently working with a number of investigators around the country on a program that is designed to take the most promising genetic variants from recent studies and learn more about them in large populations with extensive data. I'm hoping to learn more about the different pathways that these variants are involved in and possibly identify some environmental factors that may modify disease associations. Also. I am one of the curators of the National Human Genome Research Institute Genome-Wide Association studies Catalog, a summary of findings from published genome-wide association studies. It sounds like you are asking about gene therapy, which is still being explored in a research setting. One promising example is of a 4-year old girl who came to NIH in 1990 with adenosine deaminase (ADA). She was treated using gene therapy and now attends school and leads a normal life. You can read more about this example here: http://history.nih.gov/exhibits/genetics/sect4.htm Williamsburg Middle School in VA (7th grade student)

313

What do you know about GM Foods?      Mike Dougherty, B.A., Ph.D.: I am currently the director of educational activities for the American Society of Human Genetics (www.ashg.org/education). Before joining ASHG, I taught genetics and biochemistry at Hampden-Sydney College in Virginia and studied the formation and transmission of prions, protein-only infectious agents that can cause disease in humans. A good place to learn about genetically modified foods is this Web site: http://www.ornl.gov/sci/techresources/Human_Genome/elsi/gmfood.shtml. McDowell Intermediate High School in PA (10th grade student)

314

Can you make a zombie?      Amy Gaviglio, M.S., C.G.C.: I am a genetic counselor at the MN Department of Health. I work in the newborn screening program and am involved in education surrounding public health genetics and ethics. Nope! But if I did, I would definitely want Woody Harrelson around! :) Palms Middle School in CA (7th grade student)

315

Are there are genetic research studies for Alzheimer's disease?      Flavia Facio, M.S.: I am a Certified Genetic Counselor who spent over three years working in the field of cancer genetics at Memorial Sloan-Kettering Cancer Center in New York City. ýIn 2004, I came to the NHGRI where I have been working primarily on a study investigating the feasibility of providing large scale medical sequencing to adult individuals who are healthy volunteers for the most part. ýI am also involved with training and teaching genetic counseling students, and an active member of the National Society of Genetic Counselors. ýý There are a number of them. Some focus on studying the disease itself, whereas others focus on looking at treatment options for Alzheimer's disease. If you go to www.clinicaltrials.gov, and type in Alzheimer's disease, you will be able to see research studies that are ongoing. Thank you for your question. Hightower High School in TX (12th grade teacher)

316

Do geneticists work closely with pharmacologists to create new drugs?      Robin Troxell, M.S., C.G.C.: I am a pediatric and prenatal genetic counselor. I have a special interest in perinatal hospice. Yes, developing targeted drugs to have better treatments with fewer side effects are very important for many laboratory geneticists. Hightower High School in TX (12th grade student)

317

Are enetically engineered foods good for you?      Toni Pollin, M.S., Ph.D.: I do research on the genetics of complex traits, particularly type 2 diabetes and lipid variation. I also co-direct a Ph.D. and master's training program in human genetics. Theoretically if a food is genetically engineered to produce more of a nutrient that's good for your health, it is expected to be good for you. However, it's also possible that the process of changing the genes in food could unexpectedly change some other property of the original food and make it less good for you in certain ways. Note that while true genetic engineering is relatively new, farmers have been influencing the genetic makeup of the foods we eat through artificial selection for many centuries. Palms Middle School in CA (7th grade student)

318

What genetic disorders have you found cures for?      Lucia Hindorff, Ph.D., M.P.H.: I am currently working with a number of investigators around the country on a program that is designed to take the most promising genetic variants from recent studies and learn more about them in large populations with extensive data. I'm hoping to learn more about the different pathways that these variants are involved in and possibly identify some environmental factors that may modify disease associations. Also. I am one of the curators of the National Human Genome Research Institute Genome-Wide Association studies Catalog, a summary of findings from published genome-wide association studies. There are more genetic disorders than we have space to go into here. Also, even though the vast majority of disorders have some genetic component, most are a combination of genes and environment. One example where a cure has been successful is adenosine deaminase (ADA). A 4-year old girl who came to NIH in 1990 with ADA was treated using gene therapy and now attends school and leads a normal life. You can read more about this example here: http://history.nih.gov/exhibits/genetics/sect4.htm Northwestern High school in MD (12th grade student)

319

Since we have discovered DNA, besides gene therapy what else can scientists do to fix mutations in a person's DNA?      Robin Troxell, M.S., C.G.C.: I am a pediatric and prenatal genetic counselor. I have a special interest in perinatal hospice. Fixing a mutation in every single cell is not possible. Scientists are trying to develop therapies to change the faulty protein, or to replace a non-functioning protein, rather than alter the DNA itself. Palms Middle School in CA (7th grade student)

320

What do you think about a national DNA database of all who are arrested, not just convicted of crimes?      Amy Gaviglio, M.S., C.G.C.: I am a genetic counselor at the MN Department of Health. I work in the newborn screening program and am involved in education surrounding public health genetics and ethics. I think it is an interesting concept - and one that seems to be gaining traction. I am a big advocate for making sure the community is engaged in understanding the creation of DNA databases, and there does appear to be growing public approval of these. DNA, in general, is being used more and more in the courtroom, so I can understand the appeal to have a database. However, ensuring privacy of the individual must always be upheld. McDowell Intermediate High School in PA (10th grade student)

321

Does every person have the same pattern of DNA?      Lucia Hindorff, Ph.D., M.P.H.: I am currently working with a number of investigators around the country on a program that is designed to take the most promising genetic variants from recent studies and learn more about them in large populations with extensive data. I'm hoping to learn more about the different pathways that these variants are involved in and possibly identify some environmental factors that may modify disease associations. Also. I am one of the curators of the National Human Genome Research Institute Genome-Wide Association studies Catalog, a summary of findings from published genome-wide association studies. Not exactly - it is partly what makes us unique. Most of us have the same number of chromosomes, and on each chromosome, genes are organized in the same pattern. However, if you look at the actual DNA sequence you will see differences between individuals. It is reassuring to know that the vast majority of the DNA sequence is the same among individuals, though! Riverside High School in PA (10th grade student)

322

How big is a chromosome?      Mike Dougherty, B.A., Ph.D.: I am currently the director of educational activities for the American Society of Human Genetics (www.ashg.org/education). Before joining ASHG, I taught genetics and biochemistry at Hampden-Sydney College in Virginia and studied the formation and transmission of prions, protein-only infectious agents that can cause disease in humans. Chromosomes are the highly compacted form of DNA, and they vary in size. In humans, chromosomes are linear, and are roughly one or two micrometers long. Within a given species, the range of chromosome sizes is roughly half to twice the length of the average size chromosome. Bacterial chromosomes are circular. Tom St. (Higher Education student)

323

Is it possible to alter someone's genes to alleviate genetic diseases such as Rhuematoid Arthritis?      Lucia Hindorff, Ph.D., M.P.H.: I am currently working with a number of investigators around the country on a program that is designed to take the most promising genetic variants from recent studies and learn more about them in large populations with extensive data. I'm hoping to learn more about the different pathways that these variants are involved in and possibly identify some environmental factors that may modify disease associations. Also. I am one of the curators of the National Human Genome Research Institute Genome-Wide Association studies Catalog, a summary of findings from published genome-wide association studies. It sounds like you are asking about gene therapy, where new genetic material from a different individual is introduced to help treat disease One example where gene therapy has been successful is adenosine deaminase (ADA). A 4-year old girl who came to NIH in 1990 with ADA was treated using gene therapy and now attends school and leads a normal life. You can read more about this example here: http://history.nih.gov/exhibits/genetics/sect4.htm. Hightower High School in TX (11th grade student)

324

What is the different between DNA and RNA?      Mike Dougherty, B.A., Ph.D.: I am currently the director of educational activities for the American Society of Human Genetics (www.ashg.org/education). Before joining ASHG, I taught genetics and biochemistry at Hampden-Sydney College in Virginia and studied the formation and transmission of prions, protein-only infectious agents that can cause disease in humans. DNA is a double-stranded helical molecule (like a twisted ladder) composed of four different chemical building blocks (called nucleotides) that we abbreviate A, T, C, and G. RNA is a single-stranded molecule that is chemically very similar to DNA. However, RNA is made of the building blocks A, U, C, and G. Riverside High School in PA (10th grade student)

325

This fall I will be entering my freshman year in college under a biochemisty major; however, I am also interesting in earning at least a minor in creative writing or journalism. Are there any writing related scientific fields?      Toni Pollin, M.S., Ph.D.: I do research on the genetics of complex traits, particularly type 2 diabetes and lipid variation. I also co-direct a Ph.D. and master's training program in human genetics. Definitely! Science journalism immediately comes to mind. With the rapid pace of scientific advancement occurring today, especially in genetics, we need good science writers who have a strong understanding of new scientific findings and accurately communicate these findings to the general public. Peru High School in IN (12th grade student)

326

How does stem cell therapy work?      Belen Hurle, Ph.D.: The focus of my research is to study primate genomes as a means to enhance our understanding of human evolutionary biology. The stem cell therapy that is more routinely administered is bone marrow transplantation. This is used to cure some diseases of the blood, bone marrow or certain cancers. In this procedure the (healthy) donor and the (patient) recipient are matched based on their compatibility, as it pertains to a number of critical immunological genes. Then, the patient's diseased bone marrow is destroyed with chemotherapy or radiation and stem cells from the healthy marrow of the donor are introduced in the patient to resume blood cell production. If all goes well, after several weeks of growth in the bone marrow, the blood cell counts are normalized and the immune system of the patient reinitiates the immune function. L V Hightower High School in TX (12th grade teacher)

327

My Mom had ovarian cancer. My grand mother, great grandmother and two of my great, great mothers also had problems that resulted in hystrectomies. Is the tendency to have female reproductive problems hereditary? Do I have to be watchful for myself?      Flavia Facio, M.S.: I am a Certified Genetic Counselor who spent over three years working in the field of cancer genetics at Memorial Sloan-Kettering Cancer Center in New York City. ýIn 2004, I came to the NHGRI where I have been working primarily on a study investigating the feasibility of providing large scale medical sequencing to adult individuals who are healthy volunteers for the most part. ýI am also involved with training and teaching genetic counseling students, and an active member of the National Society of Genetic Counselors. ýý Hi! It is great that you are aware of your family history and looking at it to find out what could be at risk for. You are right that our family histories can give us information about diseases or conditions that we may develop as we grow older. A small percentage of cancers, including ovarian cancer, is due to hereditary factors. In your family it would be important to find out more about your mom's specific diagnosis (i.e. the type of ovarian cancer) and if possible the reasons for your grand and great mothers hysterectomies. In some cases, ancestry or ethnic background may also be important in assessing risk. Even if there is a hereditary predisposition, it is probably not something you would need to act upon until your 20s. At that point it would be helpful to consult with a specialist, such as a genetic counselor, a geneticist, or an oncologist, with training in cancer genetics. Briarcrest Christian High School in TN (10th grade student)

328

Is it possible to remove DNA strands from a human surgically? And if so, does removing the DNA affect the traits a person already possesses?      Arjun Prasad, Ph.D.: I am a post-doctoral Fellow working in bioinformatics at NHGRI. I'm very much interested in figuring out new ways to use new DNA sequencing technology and computers to learn about how genomes work, evolve, and influence human health. DNA is in every single cell of the body, so there's no way to separate DNA from a person. The traits that we have are maintained by the DNA in our cells, but they are also influenced by the history of our development, our behavior, and our current environment. Riverside High School in PA (10th grade student)

Now entering the chatroom is Les Biesecker, M.D. He currently directs a clinical and molecular genetic research program of inherited diseases.

330

Could addiction be a genetic trait or disease?      Heather A. Junkins, M.S.: I currently work in the Office of Population Genomics on a variety of projects that aim to promote the application of genomic technologies to population-based studies.ý Included in the portfolio are projects that are developing standard phenotype and exposure measures for genome-wide association studies (GWAS) and using well-characterized cohorts to follow-up on putative casual variants.ý I'm also the curator for the NHGRI GWAS Catalog. Genetics play a role in addiction and it is considered a disease. Peru High School in IN (12th grade student)

331

How does cell transfer work?      Arjun Prasad, Ph.D.: I am a post-doctoral Fellow working in bioinformatics at NHGRI. I'm very much interested in figuring out new ways to use new DNA sequencing technology and computers to learn about how genomes work, evolve, and influence human health. I'm not sure what you mean by cell transfer, but maybe you're referring to somatic cell nuclear transfer. That's where the nucleus of a somatic cell (a cell that isn't an egg or sperm) is removed from that cell and placed in a different egg cell that has had its own nucleus removed. Peru High School in IN (9th grade student)

332

If a person who has a genetic disease receives gene therapy and eventually has children, will their children inherit the disease-free genes or the diseased genes?      Les G. Biesecker, M.D.: I currently direct a clinical and molecular genetic research program of inherited diseases Great question. What you are asking relates to the concepts of germline gene therapy versus somatic gene therapy. Somatic gene therapy is designed to correct or compensate for the inherited genetic problem in cells that do not contribute to the germline (reproductive cells). Germline gene therapy or gene therapy that corrects both the germline and somatic cells can change the reproductive cells, which means that the gene therapy could affect the descendants of the person getting the gene therapy. There has been a lot of concern about this issue because the possible side effects of gene therapy, while they may be tolerable or acceptable for the patient who has the disease, might be unacceptable or cause other problems for the descendant of the therapy. For that reason, nearly all current gene therapy studies strongly avoid altering the germline cells. Keep up the good work in school and keep asking good questions - this is the heart of what scientists do! Williamsburg Middle School in VA (7th grade student)

333

How does steroid usage affect your DNA?      Heather A. Junkins, M.S.: I currently work in the Office of Population Genomics on a variety of projects that aim to promote the application of genomic technologies to population-based studies.ý Included in the portfolio are projects that are developing standard phenotype and exposure measures for genome-wide association studies (GWAS) and using well-characterized cohorts to follow-up on putative casual variants.ý I'm also the curator for the NHGRI GWAS Catalog. This is an active area of research. Peru High School in IN (12th grade student)

334

Is it possible that the human traits we consider negative (greed, envy, deceit) are or were adaptive in our past? How could I test this theory?      Amy Gaviglio, M.S., C.G.C.: I am a genetic counselor at the MN Department of Health. I work in the newborn screening program and am involved in education surrounding public health genetics and ethics. Hmmm... good question!! I am not sure that these traits have been shown to be genetic, but it might not be a stretch to think that these could have been adaptive in the past. As for testing it, this would be difficult without a time machine... but perhaps you could look at populations that are still hunter/gatherers and look at whether individuals that possess those traits are more likely to survive... good luck!! When you publish you findings, make sure you send me a copy!! Roscoe's C&W in MA (11th grade student)

335

Why are some individuals more prone to getting certain disorders than others?      Heather A. Junkins, M.S.: I currently work in the Office of Population Genomics on a variety of projects that aim to promote the application of genomic technologies to population-based studies.ý Included in the portfolio are projects that are developing standard phenotype and exposure measures for genome-wide association studies (GWAS) and using well-characterized cohorts to follow-up on putative casual variants.ý I'm also the curator for the NHGRI GWAS Catalog. Family history and environmental exposures are important factors to consider when determining risk of a particular trait or disease. Northwestern High school in MD (12th grade student)

336

Do you believe that in the human body all the cells have the same genome?      Belen Hurle, Ph.D.: The focus of my research is to study primate genomes as a means to enhance our understanding of human evolutionary biology. Actually, no they don't. For instance, sperm and eggs have only half of the genetic content than a normal somatic cell. Cells in a tumor can have pretty significant alterations of their genetic material, when compared to the their healthy counterparts in the same tissue. Some cell don't even have a nucleus - therefore they don't have a genome! That would be the case of very specialized cells such as lens epithelial cells in the lens of the eye, or the red blood cells. KHTN (Higher Education )

337

Is homosexuality genetic?      Amy Gaviglio, M.S., C.G.C.: I am a genetic counselor at the MN Department of Health. I work in the newborn screening program and am involved in education surrounding public health genetics and ethics. This question has been asked and explored many, many times, but at present, there is still no answer. A single biological factor has not been found (ie, a "gay gene"), but some studies do suggest a biological component to sexual orientation. L V Hightower High School in TX (12th grade teacher)

338

How were the DNA bases adenine, thymine, cytosine, and guanine discovered? How were they named?      Arjun Prasad, Ph.D.: I am a post-doctoral Fellow working in bioinformatics at NHGRI. I'm very much interested in figuring out new ways to use new DNA sequencing technology and computers to learn about how genomes work, evolve, and influence human health. I don't know the history of all of them, but, like many other biomolecules they were initially discovered by separating and isolating the components of living things long before their function in DNA replication and heredity was understood. As far as I know the bases are named for their side groups by the people who discovered them. Peru High School in IN (12th grade student)

339

How is it possible that one person may not look like anyone in their family, but they are compared to looking like another person whom they aren't even related to?      Robin Troxell, M.S., C.G.C.: I am a pediatric and prenatal genetic counselor. I have a special interest in perinatal hospice. Eye and hair color, face shape, and other features are not solely unique to certain families. Sometimes unrelated individuals may share a common ethnic background that has more common features, or just by chance have inherited recessive genes from their parents that make them appear to look more like someone from another family. Peru High School in IN (11th grade student)

Now entering the chatroom is Arjun Prajad, Ph.D. He is a post-doctoral Fellow working in bioinformatics at NHGRI.

341

Many people throughout the world have some type of OCD or fetishism, does that stem from mutations in their DNA? Or is it purely a nature vs nurture situation?      Toni Pollin, M.S., Ph.D.: I do research on the genetics of complex traits, particularly type 2 diabetes and lipid variation. I also co-direct a Ph.D. and master's training program in human genetics. Psychiatric conditions such as OCD (obsessive compulsive disorder) appear to result from complex interactions between genetic factors and environmental exposures including rearing environment. Peru High School in IN (11th grade student)

342

Have you personally seen any impact on research/practices that was caused by the practice of gene patenting?      Amy Gaviglio, M.S., C.G.C.: I am a genetic counselor at the MN Department of Health. I work in the newborn screening program and am involved in education surrounding public health genetics and ethics. I personally have had little exposure to gene patenting, except in the clinical realm with Myriad Genetics and their patents on the hereditary breast and ovarian cancer genes, BRCA1 and BRCA2. In this particular case, the impact is that all genetic testing for this must go through Myriad Genetics. Boston University in MA (Higher Education student)

343

Is it possible to genetically enhance a human with traits from other organisms?      Les G. Biesecker, M.D.: I currently direct a clinical and molecular genetic research program of inherited diseases Your question has two answers, the first technical and the second is ethical. It is hard to say that anything is impossible, but given how technically difficult it is to correct very severe genetic disorders with gene therapy, and how many side effects there can be, enhancement is a long way off, if it ever happens. From an ethical standpoint, it is challenging to argue that scientific and medical resources should be used to enhance, when there are so many people so desperately sick with so many illnesses. My feeling is, that once we have tackled all diseases, maybe we can talk about it - but that is not going to happen in my (or probably even your) lifetime! Thanks for the thoughtful question - I hope it spurs you to study further on this interesting topic. Williamsburg Middle School in VA (7th grade student)

344

Pseudogenes can cause NAHR - non-allelic homologous recombination. Can multiple alleles cause non-allelical recombination too?      Arjun Prasad, Ph.D.: I am a post-doctoral Fellow working in bioinformatics at NHGRI. I'm very much interested in figuring out new ways to use new DNA sequencing technology and computers to learn about how genomes work, evolve, and influence human health. Alleles are versions of genes at a given locus (position), so usually multiple alleles won't cause recombination problems since they'll be at the same loci, on different chromosomes. It is possible that if a specific allele at a locus are similar enough to sequence at a different locus that similarity could cause homologous recombination problems, but I can't think of any examples of that off the top of my head. Vilnius University (Higher Education teacher)

345

Is intelligence genetic?      Amy Gaviglio, M.S., C.G.C.: I am a genetic counselor at the MN Department of Health. I work in the newborn screening program and am involved in education surrounding public health genetics and ethics. It appears that there are some heritable components to intelligence. Several behavioral genetics studies have shown that variation in IQ is heritable. Heritability estimates for intelligence have varied from about 0.5 to 0.9. Heritability means the proportion of a trait that can be attributed to genetics. Heritability estimates less than 1.0 suggest that environment also plays a role, which is not surprising in the concept of intelligence. Peru High School in IN (11th grade student)

346

Would would cause a child who was born perfectly normal to develop and become epileptic after 4 months of age?      Flavia Facio, M.S.: I am a Certified Genetic Counselor who spent over three years working in the field of cancer genetics at Memorial Sloan-Kettering Cancer Center in New York City. ýIn 2004, I came to the NHGRI where I have been working primarily on a study investigating the feasibility of providing large scale medical sequencing to adult individuals who are healthy volunteers for the most part. ýI am also involved with training and teaching genetic counseling students, and an active member of the National Society of Genetic Counselors. ýý There are different reasons that could lead a child who appears normal at the time of birth to develop epileptic seizures later on. In some cases, children that appear to be normal at birth may have health issues and concerns that don't become apparent until later in childhood or even adulthood. Each case is different and the best approach would be to consult with a neurologist and perhaps a geneticist. Thank you for your question. Peru High School in IN (11th grade student)

347

How is it that people from different countries look so different when we all started from 2 people? (Assuming Christianity is right)      Toni Pollin, M.S., Ph.D.: I do research on the genetics of complex traits, particularly type 2 diabetes and lipid variation. I also co-direct a Ph.D. and master's training program in human genetics. Evidence based on both the fossil record and comparative genetics points to the human species originating from the gradual adaptation of pre-historic primate ancestors to a changing and diverse environment. Peru High School in IN (11th grade student)

348

Is it possible that adenine and guanine could be complementary?      Belen Hurle, Ph.D.: The focus of my research is to study primate genomes as a means to enhance our understanding of human evolutionary biology. An adenine and a guanine are not MEANT to be complementary, but sometimes they can be found paired in a DNA molecule. It is called mutation. Some sources of mutation are radiation, viruses, chemicals, UV light or mistakes in cellular processes such as mitosis or meiosis. Because mutations can be extremely harmful, all organisms have cellular mechanisms in place to find and repair those mismatches. Unfortunately, sometimes there mechanisms are not sufficient to remove all the mutations. Riverside High School in PA (10th grade student)

349

Do you believe that stem cell research has much promise or do you think it was hit a plateau?      Amy Gaviglio, M.S., C.G.C.: I am a genetic counselor at the MN Department of Health. I work in the newborn screening program and am involved in education surrounding public health genetics and ethics. I definitely think that stem cell research still has much promise! There are so many things that need to still be looked at, that I feel this research is actually very much still in its infancy. Westview High School in CA (11th grade student)

350

Is DNA acidic, basic, or neutral?      Toni Pollin, M.S., Ph.D.: I do research on the genetics of complex traits, particularly type 2 diabetes and lipid variation. I also co-direct a Ph.D. and master's training program in human genetics. Note that DNA stands for "deoxyribonucleic acid" (a long word; that's why we usually just say DNA...) and thus is acidic. Westview High School in CA (12th grade student)

351

Is making photosynthetic yeast possible right now?      Arjun Prasad, Ph.D.: I am a post-doctoral Fellow working in bioinformatics at NHGRI. I'm very much interested in figuring out new ways to use new DNA sequencing technology and computers to learn about how genomes work, evolve, and influence human health. Photosynthesis requires a lot of complex machinery, part of which is confined to the chloroplasts in plants. It would be very difficult to alter yeasts to make them photosynthetic, but there are lots of different single-celled algae and cyanobacteria that are already photosynthetic. Somersworth High School in NH (10th grade student)

352

Can a cloned rat have cancer if the original rat did not have cancer?      Les G. Biesecker, M.D.: I currently direct a clinical and molecular genetic research program of inherited diseases What a cool question - this gets to the heart of what cancer is. Cancer is a genetic disease - but genetic does not necessarily mean inherited. Cancer can be inherited - there are rare forms of some types of cancer that are caused by a mutated gene that is passed from parent to child. So, if your imaginary rat had cancer because of an inherited gene, then that rat's clone would have a very good chance of having it also. But most cancer is actually caused by genetic changes that occur after birth, and are not inherited. So, for your imaginary rat, if the cell(s) that were used to clone the rat happened to have that acquired change, then the clone would have a good chance of having the cancer. If the cell used to clone the rat did not have the change, then that cloned rat would have the same chance as any other rat. So, cancer can be caused by inherited genetic changes or acquired genetic changes. A lot of important research is being done right now to understand these changes and use that information to find cures. Thanks again for the question and I hope to hear that you land in a cancer laboratory as a research trainee! Williamsburg Middle School in VA (7th grade student)

353

How are you able to differentiate genes from one another?      Toni Pollin, M.S., Ph.D.: I do research on the genetics of complex traits, particularly type 2 diabetes and lipid variation. I also co-direct a Ph.D. and master's training program in human genetics. Genes are differentiated by their sequence of nucleotide base pairs. Physically, sequencing can be accomplished by several processes involving applying chemistry to the DNA. Northwestern High school in MD (12th grade student)

354

if I put blue dye in DNA and the DNA was cloned, would the mutated DNA creature become blue?      Toni Pollin, M.S., Ph.D.: I do research on the genetics of complex traits, particularly type 2 diabetes and lipid variation. I also co-direct a Ph.D. and master's training program in human genetics. No. Palms Middle School in CA (7th grade student)

355

I once read a book called "My Sister's Keeper" by Jodi Picoult. The book focused on a girl with cancer, and her parents created a "designer" child, making all of the girl's traits the exact same in her sister's, so that when her sister needed a transplant, transfusion, or whatever was needed, they could use the sister. Have you ever heard of something like this? Is it even possible?      Heather A. Junkins, M.S.: I currently work in the Office of Population Genomics on a variety of projects that aim to promote the application of genomic technologies to population-based studies.ý Included in the portfolio are projects that are developing standard phenotype and exposure measures for genome-wide association studies (GWAS) and using well-characterized cohorts to follow-up on putative casual variants.ý I'm also the curator for the NHGRI GWAS Catalog. Great question. Siblings share 50% of their DNA. The idea of creating "designer" children is controversial and needs further examination. If you would like to read more about this, there is a good article on the Wall Street Journal website titled, "A Baby, Please. Blond, Freckles -- Hold the Colic." Peru High School in IN (11th grade student)

356

If it was possible to clone a cloned rat, what problems would it cause in the cloned rat?      Toni Pollin, M.S., Ph.D.: I do research on the genetics of complex traits, particularly type 2 diabetes and lipid variation. I also co-direct a Ph.D. and master's training program in human genetics. It is possible to clone a cloned rat. Various problems could potentially result from mutations occurring in the genome of the cell used to make the clone. Williamsburg Middle School in VA (7th grade student)

357

Do you think its ethical to clone "perfect babies?      Vence Bonham, J.D.: I currently research the ethical, legal, social and policy implications of genomic discoveries, particularly health professionals' and lay persons' understanding of race, ethnicity and genetics. Many people over the years have raised the question whether we will be able to use genetic information to create the "perfect baby". Today we can use prenatal genetic diagnosis (PGD) to identify embryos for certain genetic conditions and new technologies are being developed to conduct noninvasive prenatal genetic testing. However the use of genetic technology will not create the "perfect baby". Palms Middle School in CA (7th grade student)

358

What did the human genome project accomplish?      Toni Pollin, M.S., Ph.D.: I do research on the genetics of complex traits, particularly type 2 diabetes and lipid variation. I also co-direct a Ph.D. and master's training program in human genetics. The Human Genome Project officially began in October 1990 and was successfully completed on April 14, 2003. The most important achievement of this international project - which was finished ahead of schedule and under budget - was sequencing the DNA that makes up the human genome. While the project itself is officially over, we are now engaged in the really exciting -- and even more important -- work of figuring out how the genome functions and how it affects our health. McDowell Intermediate High School in PA (10th grade student)

359

What are the pros and cons of animal cloning?      Amy Gaviglio, M.S., C.G.C.: I am a genetic counselor at the MN Department of Health. I work in the newborn screening program and am involved in education surrounding public health genetics and ethics. Pros for animal cloning include cloning of organs and tissues for transplants, or cloning to produce food and/or disease resistant animals, plants, etc. Cons could include lack of diversity as well as the moral issues often cited with human cloning. McDowell Intermediate High School in PA (10th grade student)

360

I want to be a biomedical engineer. What career possibilities are there in that field that deal with genetics?      Toni Pollin, M.S., Ph.D.: I do research on the genetics of complex traits, particularly type 2 diabetes and lipid variation. I also co-direct a Ph.D. and master's training program in human genetics. A sub-discipline of biomedical engineering that deals with genetics is genetic engineering, which includes, for example, developing new drugs through genetic manipulation. Peru High School in IN (11th grade student)

361

Suppose that I found a person who claimed she was my long lost sister. Can we match my DNA to hers to confirm that we are truly long lost sisters?      Arjun Prasad, Ph.D.: I am a post-doctoral Fellow working in bioinformatics at NHGRI. I'm very much interested in figuring out new ways to use new DNA sequencing technology and computers to learn about how genomes work, evolve, and influence human health. Genetic tests can determine biological relatedness with a high degree of certainty, especially between close relatives such as brothers and sisters. Peru High School in IN (11th grade student)

362

When (what year) was DNA discovered?      Heather A. Junkins, M.S.: I currently work in the Office of Population Genomics on a variety of projects that aim to promote the application of genomic technologies to population-based studies.ý Included in the portfolio are projects that are developing standard phenotype and exposure measures for genome-wide association studies (GWAS) and using well-characterized cohorts to follow-up on putative casual variants.ý I'm also the curator for the NHGRI GWAS Catalog. DNA was discovered in the late 1800s by Frederich Miescher. The biological importance of DNA was brought to light by the work of James Watson, Francis Crick, Maurice Wilkins, and Rosalind Franklin in 1953. Westview High School in CA (11th grade student)

363

My family has noticed that there are a lot of DNA surname projects. We used results from a DNA project to make a connection when no traditional records existed prior to 1840. The family had a long life span. Is this in their genes or environment?      Les G. Biesecker, M.D.: I currently direct a clinical and molecular genetic research program of inherited diseases Your question is a great one, centering on the so-called nature-nurture debate. Essentially all traits, including longevity, are a mix of genes and environment. We know that genetics can affect longevity - there are examples of families where longevity is really common, and those where it is rare. So genes can have an important effect. But environment matters a lot, sometimes more than genes for longevity. A person can have the ideal set of longevity gene variants, but if they smoke, drink too much alcohol, don't exercise, eat an unhealthy diet, drive poorly, and make lots of other bad choices, their genes will not make them live a long time. So the answer to your question 'is it genes or environment' the answer is a definite YES. Because it is both. Briarcrest Christian High School in TN (10th grade student)

364

If there can be a mutation in a gene that causes a physical change, is it possible that there can be mutations that cause a difference in sexual preference?      Toni Pollin, M.S., Ph.D.: I do research on the genetics of complex traits, particularly type 2 diabetes and lipid variation. I also co-direct a Ph.D. and master's training program in human genetics. It is certainly possible, and there is some research in this area but no definitive answers yet. Sexual preference appears to be a complex phenotype, with influences of both genetics and environment, perhaps including intrauterine environment. Westview High School in CA (10th grade student)

365

do all people have the same size cell for instence does a taller person have the same size cell as a smaller person      Arjun Prasad, Ph.D.: I am a post-doctoral Fellow working in bioinformatics at NHGRI. I'm very much interested in figuring out new ways to use new DNA sequencing technology and computers to learn about how genomes work, evolve, and influence human health. All people have the same sizes of cells in general, the differences in size of people are generally because of more or fewer cells. Some cell types can change in size though depending on circumstances. Bednarcik Junior High School in IL (8th grade student)

366

Are there some cases where the DNA isn't located in the genes, but instead in the chromosomes?      Angela Filose, M.S.: I am a genetic counselor, working primarily with pregnant patients as well as families with children that have genetic disorders. I help to gather family history information, explain test results and guide families when a diagnosis is made. To clarify, genes are made up of DNA, and chromosomes are made up of genes. So it's DNA --> genes --> chromosomes. So all DNA is located in chromosomes in humans, just as all genes are located in chromosomes. Palms Middle School in CA (7th grade student)

367

Does marijuana usage affect your genetics in any way?      Heather A. Junkins, M.S.: I currently work in the Office of Population Genomics on a variety of projects that aim to promote the application of genomic technologies to population-based studies.ý Included in the portfolio are projects that are developing standard phenotype and exposure measures for genome-wide association studies (GWAS) and using well-characterized cohorts to follow-up on putative casual variants.ý I'm also the curator for the NHGRI GWAS Catalog. Current research has shown that regular use of marijuana or THC may play a role in some kinds of cancer and have an effect on the respiratory and immune systems. Understanding the genetics of addiction is an active area of research. Peru High School in IN (12th grade student)

368

I'm doing a report on transgender America and want to know if there is a specific genome that codes for transgender?      Toni Pollin, M.S., Ph.D.: I do research on the genetics of complex traits, particularly type 2 diabetes and lipid variation. I also co-direct a Ph.D. and master's training program in human genetics. There's not a specific gene for transgender that I'm aware of, but there are many examples of genetic mutations that can cause what is known as "sex reversal," whereby, for example, the internal sex organs may be those of one sex and the external the other. An example of this is androgen insensitivity syndrome, in which testes are formed and produce testosterone, but the body lacks the receptor to use testoserone and ends up with an outwardly female appearance. Northwestern High school in MD (12th grade student)

369

Do Ultra Violet (UV) rays cause damage and mutations that could be passed down to offspring?      Arjun Prasad, Ph.D.: I am a post-doctoral Fellow working in bioinformatics at NHGRI. I'm very much interested in figuring out new ways to use new DNA sequencing technology and computers to learn about how genomes work, evolve, and influence human health. UV rays are light rays that have a lot of energy, and they can break molecular bonds and cause damage to DNA. Generally UV rays shouldn't reach germinal cells (eggs and sperm), so UV damage from the sun or tanning shouldn't cause problems that would be passed down to offspring. Palms Middle School in CA (7th grade student)

370

What is epigenetics?      Belen Hurle, Ph.D.: The focus of my research is to study primate genomes as a means to enhance our understanding of human evolutionary biology. Epigenetics factors can be though as tiny chemical tags that accumulate over time and can turn genes on or off. For instance, the genomes of identical twins can diverge quite a bit with time depending on differences in their life styles such as sun tanning, or smoking. for a really cool resource to understand epigenetics visit the Genetic Science Learning Center at: http://learn.genetics.utah.edu/content/epigenetics/ Northwestern High school in MD (12th grade student)

371

What is research and study like outside a laboratory?      Robin Troxell, M.S., C.G.C.: I am a pediatric and prenatal genetic counselor. I have a special interest in perinatal hospice. Genetic counselors are often involved in clinical research. This my involve collecting data on individuals with different genetic conditions, trying to define or describe new genetic conditions, and collaborating with laboratory geneticists and genetic counselors. Westview High School in CA (11th grade student)

372

Will the radition in Japan perrmanently affect the inherited DNA in generations to come?      Les G. Biesecker, M.D.: I currently direct a clinical and molecular genetic research program of inherited diseases This is a great question as it relates to environmental effects on inherited traits. While it is true that radiation can change genes that leads to inherited changes, it takes a very high dose. Unfortunately, Japan has a lot of experience with this question having been exposed to high doses of radiation from the atomic bombings in the second World War. This radiation caused many deaths and cancers, but surprisingly few lasting effects in the form of mutations passed down to subsequent generations. So the main worry is that the genetic changes in the exposed persons will result in them having cancer. Palms Middle School in CA (7th grade student)

373

What makes DNA and how is it formed?      Belen Hurle, Ph.D.: The focus of my research is to study primate genomes as a means to enhance our understanding of human evolutionary biology. DNA is a very long molecule made up of repeating units called nucleotides. The backbone of the nucleotides is the same, but the "bases" attached to the backbone can change. There are four different bases, (A,C,G,T) and that is where all the genetic information for making an organism resides. Palms Middle School in CA (7th grade student)

374

In Alzheimer's, since we now know that the brain shrinks 10 years before it appears, and the MRI marker, could we someday prevent Alzheimer's and in turn prevent dementia?      Flavia Facio, M.S.: I am a Certified Genetic Counselor who spent over three years working in the field of cancer genetics at Memorial Sloan-Kettering Cancer Center in New York City. ýIn 2004, I came to the NHGRI where I have been working primarily on a study investigating the feasibility of providing large scale medical sequencing to adult individuals who are healthy volunteers for the most part. ýI am also involved with training and teaching genetic counseling students, and an active member of the National Society of Genetic Counselors. ýý Thank you for your question. There are different forms of dementia, one of them being Alzheimer's disease. There are many researchers working to understand Alzheimer's and find ways to treat and eventually prevent it. Interestingly, new research looking at the brains of people who die at older ages is showing that most of these individuals have signs of dementia in their brains, but not in their day-to-day lives. This means that our brains have the ability to adapt and compensate for changes associated with aging. We still have a lot to learn, but much progress is being made! Peru High School in IN (12th grade student)

375

Besides rats and flies, what other animals are used to study DNA?      Angela Filose, M.S.: I am a genetic counselor, working primarily with pregnant patients as well as families with children that have genetic disorders. I help to gather family history information, explain test results and guide families when a diagnosis is made. There are many different model organisms that are frequently used to help us understand genetics and development. You've mentioned two, rats and flies (specifically, fruit flies, or Drosophila). Mice are frequently used to study genetic models, as well as a nematode worm known as C. elegans, bacteria such as E. coli, and yeast. All of these different organisms can help us shed light on the genetics of humans. Palms Middle School in CA (7th grade student)

376

Eventually are we going to be able to find a way to regenerate limbs? If so, wouldn't the risk of regenerating more than one limb be high?      Robin Troxell, M.S., C.G.C.: I am a pediatric and prenatal genetic counselor. I have a special interest in perinatal hospice. I am not sure if we will be able to regenerate limbs, but am sure that the technology would not be used if the risk of regenerating more than one limb was high. Current research has involved regenerating body parts such as ears on non-human animals, such as frogs. Peru High School in IN (12th grade student)

377

why is dna day so important      Arjun Prasad, Ph.D.: I am a post-doctoral Fellow working in bioinformatics at NHGRI. I'm very much interested in figuring out new ways to use new DNA sequencing technology and computers to learn about how genomes work, evolve, and influence human health. National DNA Day celebrates the successful completion of the Human Genome Project and the anniversary of the discovery of DNA's double helix in 1953. Every year, National DNA Day offers an opportunity for students to connect with genetic professionals to learn more about genetic research and career options in the field. Palms Middle School in CA (7th grade student)

Joining the chat is Dr. Dan Kastner. He is a physician and a researcher who became the scientific director of the National Human Genome Research Institute this past summer. He began his career at NIH in 1985, where he has studied the genetics, pathophysiology, and treatment of inherited disorders of inflammation. He discovered disease genes that have led to life changing treatments for patients.

379

What exactly is the human genome project and is it finished?      Arjun Prasad, Ph.D.: I am a post-doctoral Fellow working in bioinformatics at NHGRI. I'm very much interested in figuring out new ways to use new DNA sequencing technology and computers to learn about how genomes work, evolve, and influence human health. The Human Genome Project officially began in October 1990 and was considered completed on April 14, 2003. The most important achievement of the project was sequencing the DNA that makes up the human genome. While the project itself is officially over, we are now engaged in the really exciting -- and even more important -- work of figuring out how the genome functions and how it affects our health. Palms Middle School in CA (7th grade student)

380

How does radiation actually cause mutations, and what kind of mutations can occur?      Kelly Donahue, M.S.: I am a genetic counselor in the Maternal Fetal Medicine Department. I meet with women/couples that are planning to have children or who are already pregnant and have concerns that their baby may have a birth defect or genetic problem. I help them learn about genetics and testing options that can tell them more information about their babies. Radiation has the ability to break the strand of DNA and cause the normal base pair sequence to be alterered. Peru High School in IN (11th grade student)

381

How long have you been studying DNA?      Kelly Donahue, M.S.: I am a genetic counselor in the Maternal Fetal Medicine Department. I meet with women/couples that are planning to have children or who are already pregnant and have concerns that their baby may have a birth defect or genetic problem. I help them learn about genetics and testing options that can tell them more information about their babies. I personally have been working in the genetics field for close to 20 years. Brownsville Area High School in PA (9th grade student)

382

What organisms have been approved to be genetically engineered?      Angela Filose, M.S.: I am a genetic counselor, working primarily with pregnant patients as well as families with children that have genetic disorders. I help to gather family history information, explain test results and guide families when a diagnosis is made. Single-celled organisms such as yeast and bacteria have been genetically engineered for many years now. More recently, certain crop plants have also been approved for sale as genetically modified organisms (such as "RoundUp ready" plants that are resistant to a chemical herbicide). This began in 1995. There is a great deal of controversy regarding genetically engineering mammals. Williamsburg Middle School in VA (7th grade student)

383

What types of activities are likely to affect the epigenetic traits I pass on to my children?      Robin Troxell, M.S., C.G.C.: I am a pediatric and prenatal genetic counselor. I have a special interest in perinatal hospice. Your exposure to toxins, your nutritional status, and your use of certain medications can influence your epigenome. This is one of the fastest growing areas of science and very exciting! Houston Community College in TX (Higher Education student)

384

What happens if DNA doesn't replicate and leave the nucleus?      Arjun Prasad, Ph.D.: I am a post-doctoral Fellow working in bioinformatics at NHGRI. I'm very much interested in figuring out new ways to use new DNA sequencing technology and computers to learn about how genomes work, evolve, and influence human health. Basically the cell doesn't divide. In fact, we use this in the lab, we can stop the process using drugs and the cells don't divide. Palms Middle School in CA (7th grade student)

385

Why do different analysis methods like sequencing or arrays show different variation?      Toni Pollin, M.S., Ph.D.: I do research on the genetics of complex traits, particularly type 2 diabetes and lipid variation. I also co-direct a Ph.D. and master's training program in human genetics. If the methods are used to answer the same question (say using sequencing or a sequencing array to find out the sequence of a particular individual's cystic fibrosis gene), then they should show the same variation unless one of them is in error. However, sometimes were are not interested in knowing an entire sequence, just whether a person has particular variant(s); then we might use a genotyping method or an array that looks for several variants but not a whole sequence. Vilnius University (Higher Education teacher)

386

I was diagnosed with Glaucoma at the age of eight, and have been told that it is more well known in adults. How is it that I developed this at such a young age? Will my children in the future have a high chance of developing Glaucoma at a young age, as well?      Heather A. Junkins, M.S.: I currently work in the Office of Population Genomics on a variety of projects that aim to promote the application of genomic technologies to population-based studies.ý Included in the portfolio are projects that are developing standard phenotype and exposure measures for genome-wide association studies (GWAS) and using well-characterized cohorts to follow-up on putative casual variants.ý I'm also the curator for the NHGRI GWAS Catalog. Glaucoma is the second leading cause of blindness in the world and can strike at any age. Mutations in the CYP1B1 gene have been identified as possible areas of interest and research has suggested that this gene may be responsible for >50% of cases in some populations. This is an active area of research. Peru High School in IN (11th grade student)

387

How rapidly does DNA change per minute? If we are growing everyday.      Robin Troxell, M.S., C.G.C.: I am a pediatric and prenatal genetic counselor. I have a special interest in perinatal hospice. DNA is a very long molecule made up of repeating units called nucleotides. The backbone of the nucleotides is the same, but the "bases" attached to the backbone can change. There are four different bases, (A,C,G,T) and that is where all the genetic information for making an organism resides. This basic information is passed down from cell to cell. Most mutations that occur are corrected. Merced Community College in AR (student)

388

Is it possible to use a embryonic stem cells from a different species by removing its nucleus and replacing it with a that of an adult stem cell?      Robin Troxell, M.S., C.G.C.: I am a pediatric and prenatal genetic counselor. I have a special interest in perinatal hospice. It is possible to remove the nucleus from the cell of one organism and put it into an enucleated cell from a different organism. Williamsburg Middle School in VA (7th grade student)

389

Could a child of two dwarves be of regular size?      Les G. Biesecker, M.D.: I currently direct a clinical and molecular genetic research program of inherited diseases This is a great question - and it was answered by Gregor Mendel more than 100 years ago! Mendel answered this question with flowers - if one crosses two pink flowers, one sees 1/4 of the offspring have red flowers, 1/2 of them have pink flowers, and 1/4 have white flowers. This is because the color of the flower is controlled by a gene and the pea plant has two copies of the gene. Let's call it the Red gene. The normal form of the gene we can call R, the mutated form of the gene we can call r. A red plant is RR, a pink plant Rr, and a white plant rr. Each parent plant contributes one or the other gene. You and your teacher can draw this out on the board, but crossing one Rr plant with another Rr plant gives 1/4 RR, 1/2 Rr, and 1/4 rr. The most common form of dwarfism is achondroplasia, caused by a mutation in a gene called FGFR3. People with achondroplasia have one mutated copy of FGFR3 and one normal copy. So, for each child of such a couple, there is a 1/4 chance that they would be normal height, 1/2 that they would have achnodroplasia, and a 1/4 chance that they would have a more severe dwarfing syndrome, which is caused by having two mutated copies of this gene. This is a great question that medical genetics doctors and genetic counselors have to answer every day in genetics clinic - I hope you will consider this for a career! Academy of the Sacred Heart in MI (12th grade student)

390

With the nuclear drama in the ocean waters surrounding Japan, would the radiation mutate the fish? Like, Blinky from The Simpson's? :)      Belen Hurle, Ph.D.: The focus of my research is to study primate genomes as a means to enhance our understanding of human evolutionary biology. High levels of radioactivity are likely to kill the fish in the first place, before they even reproduce and pass any mutation to their offspring. Along the same lines, I would image that the safety agencies are concerned about people eating seafood contaminated with high levels of radioactive isotopes and developing cancers or other harmful health conditions. Certainly, in the long term, some mutations will eventually be passed to the offspring of the marine organisms in the ecosystems nearby the site of the nuclear accident. Peru High School in IN (12th grade student)

391

Is there a genetic component to human behavior?      Arjun Prasad, Ph.D.: I am a post-doctoral Fellow working in bioinformatics at NHGRI. I'm very much interested in figuring out new ways to use new DNA sequencing technology and computers to learn about how genomes work, evolve, and influence human health. Human behavior has both a genetic and environmental components. An example of behaviorally related gene is the alcohol dehydrogenase allele that confers a lower risk of alcoholism, a behavioral disease. Northwestern High school in MD (12th grade student)

392

How do mutations occur if the process of coping genes requires the complimentary nucleotide to be created?      Dan Kastner, M.D., Ph.D: Joining the chat is Dr. Dan Kastner. He is a physician and a researcher who became the scientific director of the National Human Genome Research Institute this past summer. He began his career at NIH in 1985, where he has studied the genetics, pathophysiology, and treatment of inherited disorders of inflammation. He discovered disease genes that have led to life changing treatments for patients. There are a number of mechanisms by which mutations can occur. In some cases, radiation or exposure to certain chemicals or medications can induce damage or changes to the nucleotides in the DNA chain. There are error-repair mechanisms, but sometimes they result in a loss of one or more nucleotides, or the replacement of one nucleotide with another. Another mechanism by which mutations can occur is that the DNA replication process is not totally accurate, especially if the DNA strand being replicated has repetitive sequence. McCleskey Middle School in GA (7th grade student)

393

Is it ethical to make baby clones for the reason of harvesting their organs for transplants?      Vence Bonham, J.D.: I currently research the ethical, legal, social and policy implications of genomic discoveries, particularly health professionals' and lay persons' understanding of race, ethnicity and genetics. Currently it is not possible and illegal to clone humans. The question of having a child for the purpose of using an organ for transplant to a sibling is controversial. This is the type of question that is explored in the field of bioethics. Hightower High School in TX (12th grade student)

394

How does the cell know what introns to splice out of RNA?      Toni Pollin, M.S., Ph.D.: I do research on the genetics of complex traits, particularly type 2 diabetes and lipid variation. I also co-direct a Ph.D. and master's training program in human genetics. Introns begin and end with a particular set of sequences called a "consensus sequence"--GT at the beginning and AG at the end, that identify the sequence to the cellular machinery as an intron. Methacton High School in PA (9th grade student)

395

How can creatures like starfish regenerate body parts? Would it be possible to insert that part of the starfish's DNA into humans so we can regenerate body parts also?      Arjun Prasad, Ph.D.: I am a post-doctoral Fellow working in bioinformatics at NHGRI. I'm very much interested in figuring out new ways to use new DNA sequencing technology and computers to learn about how genomes work, evolve, and influence human health. There are lots of researchers trying to answer this question. Current thinking is that mammals have lost some of the machinery that allows the wholesale regeneration of most body parts, and scientists are hopeful that by better understanding how regeneration works in animals like starfish we can learn how to help the human body regenerate. Peru High School in IN (11th grade student)

396

My mom had breast cancer, does that mean I'm going to get it too?      Flavia Facio, M.S.: I am a Certified Genetic Counselor who spent over three years working in the field of cancer genetics at Memorial Sloan-Kettering Cancer Center in New York City. ýIn 2004, I came to the NHGRI where I have been working primarily on a study investigating the feasibility of providing large scale medical sequencing to adult individuals who are healthy volunteers for the most part. ýI am also involved with training and teaching genetic counseling students, and an active member of the National Society of Genetic Counselors. ýý It depends. About 10% or so of all cases of breast cancer are due to inherited predispositions. In these families, mutations or variations in certain genes (eg. BRCA1 or BRCA2) are passed down from generation to generation. Individuals who inherit the gene mutation are at a higher risk to develop breast cancer, but it does not mean that they will develop it for sure. Families which are afflicted with this type of inherited cancers tend to have a number of family members affected, and breast cancer is more likely to develop at younger ages. It is important to keep in mind that even in these families not all individuals inherit the gene mutation and predisposition to cancer. It would probably be a good idea for your mother to discuss this with her physician and follow-up with a genetics professional if appropriate. Thank you for your question. Best of luck. Academy of the Sacred Heart in MI (12th grade student)

397

is human cloning against the social ethics?      Amy Gaviglio, M.S., C.G.C.: I am a genetic counselor at the MN Department of Health. I work in the newborn screening program and am involved in education surrounding public health genetics and ethics. Yes, it is currently not possible and illegal to clone humans. Institute of Agriculture and Animal Science (Higher Education student)

398

How many base pairs make up one strand of DNA?      Dan Kastner, M.D., Ph.D: Joining the chat is Dr. Dan Kastner. He is a physician and a researcher who became the scientific director of the National Human Genome Research Institute this past summer. He began his career at NIH in 1985, where he has studied the genetics, pathophysiology, and treatment of inherited disorders of inflammation. He discovered disease genes that have led to life changing treatments for patients. If one considers each chromosome to be a single contiguous strand, then in essence you are asking how long (i.e., how many base pairs) are in a single chromosome. In the human, the chromosomes are numbered according to their length, with chromosome 1 being the longest and 22 the shortest. Although I do not recall the exact length of human chromosome 1, it is greater than 200 million base pairs. Westview High School in CA (11th grade student)

399

Is it possible for a person's skin to change color based on a specific food they eat constantly?      Heather A. Junkins, M.S.: I currently work in the Office of Population Genomics on a variety of projects that aim to promote the application of genomic technologies to population-based studies.ý Included in the portfolio are projects that are developing standard phenotype and exposure measures for genome-wide association studies (GWAS) and using well-characterized cohorts to follow-up on putative casual variants.ý I'm also the curator for the NHGRI GWAS Catalog. Recent research has found that eating a diet high in carotenoids (nutrient in some fruits and leafy green veggies) can cause a change in the color of your skin. Academy of the Sacred Heart in MI (12th grade student)

400

Can you please explain how sunbathing (or some other bad exposure) doesn't end up causing a disease until much later in life? Why is there such a delay between when someone is exposed to a hazardous element and when they get a disease?      Les G. Biesecker, M.D.: I currently direct a clinical and molecular genetic research program of inherited diseases A very sophisticated question that relates to genes and the biology of cancer! The main risk from sun exposure is skin cancer. Skin cancer, like all cancers, is caused by the accumulation of multiple gene mutations in a cell. The second important fact is that sun exposure causes mutations. So, a cell must accumulate a bunch of mutations over time to allow it to change from a healthy cell to a cancer cell. This is where the time lag comes in - it can take years for the additional mutations to occur. So, enjoy the outdoors and don't be afraid to be active, but use your sunscreen to keep those cells from getting mutated! John Jay High School in TX (11th grade )

401

Does tRNA get expressed from DNA just like mRNA and is the anticodon somehow separated from the surrounding nucleotides? How does the specific tRNA pick up the correct amino acid?      Toni Pollin, M.S., Ph.D.: I do research on the genetics of complex traits, particularly type 2 diabetes and lipid variation. I also co-direct a Ph.D. and master's training program in human genetics. After tRNA is transcribed, it folds into a secondary structure formed by pairing of complementary nucleotides. This structure exposes the anticodon prominently on one end and on the other end is a CCA termination sequence that binds to the amino acid. Enzymes called aminoacyl tRNA synthetases catalyze reactions that bind specific tRNAs to specific amino acids. Bettsville High School in OH (10th grade teacher)

402

Is epilepsy genetic, or can i be aquired?      Heather A. Junkins, M.S.: I currently work in the Office of Population Genomics on a variety of projects that aim to promote the application of genomic technologies to population-based studies.ý Included in the portfolio are projects that are developing standard phenotype and exposure measures for genome-wide association studies (GWAS) and using well-characterized cohorts to follow-up on putative casual variants.ý I'm also the curator for the NHGRI GWAS Catalog. Some types of epilepsy are inherited but most types are caused by a complex relationship between genes and environmental exposures. Magdelene Caldwell-Burke in MD (12th grade student)

403

What is normal research like in a lab on a daily basis?      Arjun Prasad, Ph.D.: I am a post-doctoral Fellow working in bioinformatics at NHGRI. I'm very much interested in figuring out new ways to use new DNA sequencing technology and computers to learn about how genomes work, evolve, and influence human health. It varies depending on the kind of lab. My experience is in molecular genetics labs. There lab work involves reading papers, performing experiments at the bench using specialized equipment, having meetings and discussions, and writing up results and papers. Most days are a mix of bench work and computer work with the occasional meeting in between. Many typical experiments take days to weeks, with lots of pauses and different steps in between, so most people try to schedule other things so they can get the most productive use of time between working on experiments. Westview High School in CA (12th grade student)

404

Why does DNA keep going and never end?      Amber Trivedi, M.S.: I am a cancer and reproductive genetic counselor. In addition to providing clinical care, I lead InformedDNA's programs to educate other health care providers, clients, and the lay population about the significance of clinical genetics. Although it is long, DNA does end. The average human DNA strand is 6 feet! And that is all packaged into the tiny nucleus of a single cell. Every cell contains DNA strands of that length! Palms Middle School in CA (7th grade student)

405

Do you think it will be possible for parents one day to be able to create a designer child? Like being able to pick eye and hair color.      Belen Hurle, Ph.D.: The focus of my research is to study primate genomes as a means to enhance our understanding of human evolutionary biology. Theoretically it is a possibility, but from a legislative point of view, I would assume that laws regulating (prohibiting) the genetic manipulation of humans for reasons other than medical will be in place everywhere in the world well before the technology is ready. The closer we are right now to "designing" children is through the use of pre-implantation techniques. These are used to assist couples known to be in high risk to conceive children with a specific genetic condition. Through assisted reproduction technology, the parents-to-be can produce and screen a number of embryos and chose to implant only those who are disease free. Peru High School in IN (11th grade student)

406

What are some things we can do to prevent Alzheimers?      Les G. Biesecker, M.D.: I currently direct a clinical and molecular genetic research program of inherited diseases Great question - we have a lot to learn about Alzheimer's disease and there are no specific treatments available today. Scientists are working hard to unravel exactly what is going in cells (neurons of the brain) to cause the dysfunction that leads to this devastating disorder. This includes all kinds of approaches, genetics, cell biology, neuroscience, etc. to understand this complex phenomenon. As of today, we don't have a complete picture of this dysfunction, and without that, it is very difficult to develop a specific treatment or a preventive measure. But great progress is being made and neuroscience is exploding right now with new ideas and techniques to speed this up. I am optimistic that within my lifetime enough of this disorder can be unraveled at the molecular level that a specific treatment can be developed! L V Hightower High School in TX (12th grade teacher)

407

Can a gene become extinct?      Dan Kastner, M.D., Ph.D: Joining the chat is Dr. Dan Kastner. He is a physician and a researcher who became the scientific director of the National Human Genome Research Institute this past summer. He began his career at NIH in 1985, where he has studied the genetics, pathophysiology, and treatment of inherited disorders of inflammation. He discovered disease genes that have led to life changing treatments for patients. We generally use the word "extinct" to refer to a species rather than a gene, but if you mean can a gene no longer be used in a given species, that certainly can happen. This can happen if a mutation arises in that gene that impairs production of the encoded protein, and if that mutation is passed on to the population over many generations. Of course, if the gene in question encodes a protein that is essential for life, the offspring may not survive. But in other cases there can be redundancy in the system, and thus another gene without a mutation may "fill in" for the mutated one. Westview High School in CA (12th grade student)

408

What attracts acetyl groups to certain parts of DNA?      Jeffrey Ohmen, Ph.D.: In my current position, I am responsible for the design, implementation and execution for all genetic studies at the House Ear Institute. Not sure what this question is relating too. And I don't know the exact answer. But we do know that it's not an ionic interaction, so probably not much to do with phosphate backbone or even the sugar groups. so I'm guessing that they may intercollate between the bases. Francis Howell Central High School in MO (11th grade student)

409

How is dna involved in protien synthesis?      Jeffrey Ohmen, Ph.D.: In my current position, I am responsible for the design, implementation and execution for all genetic studies at the House Ear Institute. OK. This is the most important function of DNA, to encode all the proteins in our body. DNA is the blue prints for all the proteins in the body. To build a building, you need plans of where each board and piece of steel goes. You also need to make the steel and/or cut the boards. So DNA is these plans. RNA are like the construction foreman who reads the plans and tells the construction workers (proteins) to do. OK analogy? Brownsville Area High School in PA (9th grade student)

The American Society of Human Genetics (ASHG) has just announced the winners of its annual National DNA Day Essay Contest. This year, high school students had a choice of answering two questions: Question 1: In 2010, a major discovery in genetics research found that the DNA of some modern humans contains small amounts of Neanderthal DNA. Briefly explain this finding and discuss its relevance to human ancestry and evolution. Question 2: A number of companies offer genetic testing directly to consumers, bypassing the involvement of physicians and genetic counselors. Discuss whether you think this is a good idea or not. You might focus on medical, ethical, legal, or social dimensions of this issue. The 2011 DNA Day Essay Contest winners are: For Question 1   Student Grade School City / State Teacher 1st Place Josephine (Josie) Benson 10 Bowling Green High School Bowling Green, OH Hans Glandorff 2nd Place Nathan Swetlitz 10 Naperville Central High School Naperville, IL Nicholas DiGiovanni 3rd Place Michael Zhang 10 Smithtown High School East Smithtown, NY Maria Zeitlin Trinkle For Question 2   Student Grade School City / State Teacher 1st Place Heba Bhat 9 East Chapel Hill High School Chapel Hill, NC Judith Jones 2nd Place Julia Kroll 11 James Madison Memorial High School Madison, WI Cindy Kellor 3rd Place Julianna Hsing 11 Winston Churchill High School Potomac, MD Anat Schwartz First place winners will each receive $400 and their teachers will each get a $2,000 grant for laboratory genetics equipment. Second place winners will each receive $250. Third place winners will each receive $150. For complete details, visit: http://www.ashg.org/education/dnadaycontest.shtml. Congratulations to all the winners and thank you all for participating. Happy DNA Day!

411

Is cancer gentic?      Dan Kastner, M.D., Ph.D: Joining the chat is Dr. Dan Kastner. He is a physician and a researcher who became the scientific director of the National Human Genome Research Institute this past summer. He began his career at NIH in 1985, where he has studied the genetics, pathophysiology, and treatment of inherited disorders of inflammation. He discovered disease genes that have led to life changing treatments for patients. Genetics plays a very important role in cancer. In some cases, there are genes that run in families that increase the risk of developing one or more kinds of cancer. In other cases, mutations may arise because of radiation, exposure to certain kinds of chemicals, or errors in DNA replication as cells divide in the body, leading to the development of cancer in the cells derived from the cell with the mutation. In some cases, it takes a combination of an inherited mutation and a somatic mutation (mutation in the cells dividing in the body) in order to develop cancer. Campbell High School in NH (10th grade student)

View Second Half of Transcript >>

Top of page

Posted: April 15, 2011