Share Print

---

The 8th Annual National DNA Day Essay Contest is now open

The American Society of Human Genetics (ASHG), invites you to participate in the 8th Annual DNA Day Essay Contest! The contest is open to students in grades 9-12. The contest aims to challenge students to examine, question, and reflect on the important concepts of genetics. Read more
Find out more on National DNA Day

---

Webinar explores neurobiology research and treatment

Ellen Sidransky, M.D., with NHGRI's Medical Genetics Branch, presented research on translational neurobiology in a webinar hosted by Science magazine. She discussed the genetics of Gaucher disease, a rare lysosomal storage disorder that often causes neurologic symptoms. Dr. Sidransky is one of three NIH presenters who participated in the free webinar held Feb. 13, 2013. See the Webinar

---

Waterston and Sulston kick off HGP10 Seminar

Dr. Robert Waterston, M.D., Ph.D., and Sir John Sulston, Ph.D., kick off the first in a series of lectures celebrating the 10th anniversary of the Human Genome Project (HGP) with Conceptualization of the Human Genome Project and Development of Data Release Principles. Come hear them speak on Thursday, Feb. 14, from 9:00-11:00 a.m. at Lipsett Auditorium, NIH Clinical Center. Read more

---

National Advisory Council for Human Genome Research meets in open session

Watch live on Monday, February 11, when NHGRI convenes the 67th meeting of the National Advisory Council for Human Genome Research (NACHGR). The Cancer Genome Atlas, Human Heredity and Health in Africa and an update on the Centers of Excellence in Genomic Science program are highlighted.
Read the agenda

---

NHGRI researchers provide insights on the genetics of dog skull variation

Breeding has fostered remarkable craniofacial diversity in the domestic dog - from the Collie's elongated snout to the compressed face of the Pug. Study of dog skull variation conducted at NHGRI's Cancer Genetics Branch (CGB) is leading to explorations of both canine, and human skull biology and genetics. Elaine A. Ostrander, Ph.D., chief of NHGRI's Cancer Genetics Branch (CGB), and Jeffrey J. Schoenebeck, Ph.D., CGB research fellow, review the biology and genetics of canine skull formation in an article appearing the February issue of Genetics. Read more

---

NHGRI Celebrates 10th Anniversary of Human Genome Project Completion

Ten years after completion of the Human Genome Project (HGP), researchers from around the world continue to make discoveries about the human genome. To mark the 10-year anniversary of the project's completion and reflect on the HGP's revolutionary influence on biomedicine, the National Human Genome Research Institute, which spearheaded the HGP, plans a series of stimulating seminars, a symposium and an interactive exhibition at the Smithsonian's National Museum of Natural History. Read more

---

Ophthalmic Genetics and Clinical Treatment Opportunities

On Friday, February 8th, Paul A. Sieving, M.D., Ph.D., director of the National Eye Institute, NIH, will present the the fifth lecture in the Genomics in Medicine Lecture Series at Suburban Hospital, Bethesda, Md. Dr. Sieving will discuss how gene identification has led to dissecting the molecular mechanisms and biological pathways of opthalmic disease, and how these studies have provided ways to explore targeted therapies. Read more

---

Special issue highlights nurses' role and practical considerations in genomic healthcare

Ensuring that nurses play a central role in the application of genomics to clinical care is at the core of the 2013 Genomics Special Issue of the Journal of Nursing Scholarship. The publication, coordinated by National Institutes of Health researchers Kathleen Calzone, Ph.D., RN, APNG, FAAN and Jean Jenkins, Ph.D., RN, FAAN, explores genomic variation and its clinical implications for common diseases. Read more

---

Genome Advance of the Month

The Power of Sequencing Single Cell Genomes

As the fundamental unit of life, each cell contains a complete copy of an organism's genome, which can undergo dynamic DNA mutations as the cell grows and divides. Studying the genomes of single cells is important for tracking global patterns of change across hundreds or thousands of individual cells, and will help to elucidate changes that occur in DNA over time. In this issue of Genome Advance, we focus on a novel technique that allows researchers to accurately sequence a single cell. Read more

---

NHGRI/NIGMS reaffirm robust privacy protections in data sharing

The National Human Genome Research Institute and the National Institute of General Medical Sciences, part of the National Institutes of Health, wrote a policy forum in this week's Science to accompany a research paper on the identifiability of genomic research data. The policy paper reaffirms the Institutes' commitment to the privacy of research participants and the benefits of widespread and open research data sharing. The research paper is from the Whitehead Institute for Biomedical Research in Cambridge, Mass. (For free access, register with Science at the link on the site.)
Read the policy paper [sciencemag.org]
Read the Whitehead Institute Study [sciencemag.org]

---

Video available now for Kenneth Fischbeck's neuromuscular disease in the genomic era

If you missed the Genomics in Medicine lecture Developing Treatment for Hereditary Neuromuscular Disease by Kenneth Fischbeck, M.D., NIH distinguished investigator, video of that lecture is now available. Dr. Fischbeck discusses how the identification of hereditary neuromuscular disease genes has brought accurate diagnostic testing and opportunities for developing treatment. Watch the lecture

---

Funding Opportunity Announcement

Gene Function Studies to Investigate Rare and Undiagnosed Diseases

Since 2008, the Undiagnosed Disease Program (UDP) in NHGRI's Intramural Research Program has identified more than 15 gene variants that may play a role in very rare disorders. The NIH Common Fund UDP has just announced research funding to determine what these genes do and whether they are involved in diseases.
Read the Announcement
Read additional FOA information

---

NIH researchers link enzyme deficiency with faulty DNA replication and cancer

NIH researchers have discovered a cancer-causing flaw that can occur when ATAD5, one of many enzymes in the replication process, is deficient. The defect causes DNA replication to stall and the normal precision of replication proteins to become chaotic. The study appeared in the Dec. 31, 2012, advance online issue of the Journal of Cell Biology. Read more

---

Video for The Genetics of Parkinson Disease: Insights from a Mendelian Disorder is now available

On Dec. 7, 2012, Ellen Sidransky, M.D., senior investigator in NHGRI's Medical Genetics Branch, presented The Genetics of Parkinson Disease: Insights from a Mendelian Disorder. The full video of this third lecture in the Genomics in Medicine Lecture series is now available. See the Video

---

Join us Jan. 4 for a lecture on neuromuscular disease in the genomic era

On Jan. 4, 2013, Kenneth Fischbeck, M.D., NIH distinguished investigator in the Neurogenetics Branch of the National Institute of Neurological Disorders and Stroke will present a lecture on how the identification of hereditary neuromuscular disease genes has brought accurate diagnostic testing and opportunities for developing treatment. Read more

---

NHGRI's Intramural Training Office challenges young scientists to imagine their future

Early career scientists in the National Human Genome Research Institute intramural training program (NHGRI) say that their biggest concern is a challenging job market and what lies ahead for them after their time at NHGRI. To address these worries, NHGRI's Intramural Training Office convened faculty and trainees at the Bolger Center in picturesque Potomac, Maryland, for a one-day meeting. Read more

---

Bioluminescent comb jellies begin to shed light on the evolution of vision

Bioluminescent sea creatures that emit and detect light are providing clues to the evolution of sight and may, in time, shed light on our understanding of eye diseases. Research published in the December 21 issue of BMC Biology has pinpointed the genes involved in making and sensing light in this organism. Read more

---

Genome Advance of the Month

Food for thought

If "you are what you eat," we must better understand our food to keep ourselves healthy. After all, food that we consume is quite literally the building blocks for cells in the body. In November, researchers from around the world published studies evaluating the potential of genomics to improve our diets. So, in the spirit of the holiday feasts, this Genome Advance of the Month focuses on articles that ask, "What's for dinner?"
Read more

---

Enabling Cancer Research Through TCGA

On November 27-28, 2012, The Cancer Genome Atlas (TCGA) held its second annual scientific symposium, holding collaborative workshops, poster sessions and plenary presentations. TCGA investigators from around the world shared their novel biological discoveries, analytical methods and translational approaches using TCGA data. Videos and slides of the lectures are now available. Read more

---

Drama sets the stage for exploring medical technology's ethical dilemmas

Plays like Frankenstein and Who's Afraid of Virginia Woolf? provide insight into the ethical, legal and social implications of emerging medical technologies, according to research by NHGRI's Karen H. Rothenberg, J.D., M.P.A. and Columbia University's Lynn W. Bush, Ph.D., M.S. Their article, Manipulating Fate: Medical Innovations, Ethical Implications, Theatrical Illuminations, appears in an upcoming issue of the Houston Journal of Health Law & Policy. Read more

---

The Director's Page

Answering Big Questions

Big questions often require big efforts to find the big answers. As a funding agency and a guiding force for the Human Genome Project, NHGRI has led the research community in tackling those big questions. NHGRI Director Eric Green, M.D., Ph.D., talks about how continuing to ask the big questions will help genomics advance medical care and improve human health.
Read more

---

Join us Dec. 7 for a lecture on the genetics of Parkinson disease

On Dec. 7, 2012, Ellen Sidransky, M.D., senior investigator in NHGRI's Medical Genetics Branch, will present The Genetics of Parkinson Disease: Insights from a Mendelian Disorder. Dr. Sidransky will discuss recently identified Parkinson genes and genetic risk factors and how studying Gaucher disease - a rare, lysosomal storage disorder - has provided a deeper understanding of Parkinson disease. Read more

---

ACMG Statement on Public Disclosure of Clinically Relevant Genome Variants

Genetic tests are playing an increasing role in medical practice. Clinicians interpret genetic tests by examining databases that describe the role of genome sequences. In a new position statement, the American College of Medical Genetics and Genomics (ACMG) has said that this clinical information should be in the public domain where it can benefit everyone rather than held privately as some labs are doing.
Read the ACMG statement

---

Genome Advance of the Month

Do genes make us keep our fat jeans?

Why can't we keep the weight off? In the Journal of Clinical Investigation, Viviana F. Bumaschny, M.D., Ph.D., from the University of Buenos Aires, and her collaborators, sought to answer that question. Changing a gene in mice, watching how much they ate and tracking their weight may have provided the answer. Read more

---

2012 SACNAS conference brings out the best in NHGRI alum Keolu Fox

SACNAS conference organizers have recognized Keolu Fox with the 2012 SACNAS Graduate Student Oral Presentation Award in the genetics category. His talk showcased a new technology that determines ABO blood types using next-generation human genome sequence data. Read more

---

Gather for a family health portrait this Thanksgiving

Over the Thanksgiving holiday, or at other times when families gather, the Surgeon General encourages Americans to talk about and write down the health problems that seem to run in their family. Learning about your family's health history may help ensure a longer, healthier future together. Read more

---

Video for The Genomics of ADHD is now available

On Nov. 2, 2012, Maximillian Muenke, M.D., chief and senior investigator in the Medical Genetics Branch of the National Human Genome Research Institute presented The Genomics of Attention Deficit Hyperactivity Disorder (ADHD). The full video of this second lecture in the Genomics in Medicine Lecture series is now available. See the video

---

Genome Advance of the Month

ENCODE: Deciphering Function in the Human Genome

Our next Genome Advance of the Month explores the results of The ENCODE Project, as reported in 30 coordinated papers published in the September 6, 2012, issues of Nature, Genome Research and Genome Biology, along with additional ENCODE-funded papers in Science, Cell and Nucleic Acids Research. These journals highlight an initial analysis of 15 trillion bytes of raw data, generated from 1640 datasets that involve 147 cell types. Read more

---

Same gene, different alteration causes another rare, autoinflammatory disease

NIH researchers have found a second, ultra-rare autoinflammatory disease caused by the same gene that just 10 months ago they attributed to a similar disease discovery. Both diseases cause ultra-rare autoinflammatory conditions, but the involved gene, PLCG2, is altered in different ways and each disease presents distinct symptoms. Read more

---

1000 Genomes Project: A Foundation for Personalized Medicine

On Nov. 1, an international team of researchers working on the 1000 Genomes Project published in Nature interim findings on the first 1,092 people to have their genomes sequenced. Four leaders in the project discuss the results in this new video from NHGRI's Genome Productions. See the video
Read the paper [nature.com]
Read the press release
Visit www.1000Genomes.org

---

Older Archives »