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 Thursday, May 10, 2007     Volume 18   Number 19  
Genomics & Health Weekly Update Genomics & Health Weekly Update Family History Genomics & Health Weekly Update Family History Population Research Genomics in Practice General Public
  This weekly update provides information about the impact of human genetic research on disease prevention & public health. open mailbox for email deliveryGet email updates
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National Stroke Month
Stroke is the third leading cause of death and a major cause of disability
in the United States. Read more.

National Mental Health Month
Mental disorders are real, disabling health conditions that have an immense impact on individuals and families in the United States. Read more.
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blue dotAnnouncements
blue dotGenomics In The News
blue dotScientific Literature
blue dotFamily History
blue dotGenetic Testing
blue dotHuGE Articles
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Genomics Announcements
   
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May public health genomics seminar presented by CDC
“Knowledge Integration in Public Health Genomics: Evaluation of Genetic and Genomic Tests” — May 17, 2007, Rockville, MD (ENVISION – Atlanta, GA)
   
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The American Cancer Society launches a major new research study to discover the genetic and environmental factors that cause and prevent
cancer
  non-gov warning icon

   
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NHGRI, NCI, and NIH are collaborating with two health systems to launch a study to probe how healthy, younger adults make use of genetic tests

   
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New website of CDC’s Evaluation of Genomic Applications in Practice and Prevention (EGAPP) project non-gov warning icon



Genomics In The News

  • The following are headlines from on-line news articles published during the past week.
  • The headlines and lead sentence are exactly as they appear in the popular press & do not necessarily reflect the opinions or recommendations of CDC.
  • Free registration required for some articles.
Featured Item
“Gene Identified as Risk Factor for Heart Ills” non-gov warning icon
(May 4) The New York Times reports, “Two rival teams of scientists have discovered a common genetic variation that increases the risk of heart disease up to 60 percent in people of European descent.”
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“Cataloging the Structural Variations in Human Genetics” non-gov warning icon
(May 10) HHMI reports, “A major new effort to uncover the medium- and large-scale genetic differences between humans may soon reveal DNA sequences that contribute to a wide range of diseases, according to a paper by Howard Hughes Medical Institute investigator Evan Eichler and 17 colleagues published in the May 10, 2007, Nature.”

“University of Pittsburgh discovers genetic 'shut down' trigger in healthy immune cells” non-gov warning icon
(May 9) EurekAlert! reports, “A fundamental genetic mechanism that shuts down an important gene in healthy immune system cells has been discovered that could one day lead to new therapies against infections, leukemia and other cancers.”

“Walk-a-thon will help genetic disorder patients” non-gov warning icon
(May 9) CBS4 Denver reports, “Students at Kent Denver School are putting their best feet forward as the school hosts a 1.5 mile walk-a-thon for Prader-Willi Syndrome.”

“Genes take charge, and diets fall by the wayside” non-gov warning icon
(May 8) EurekAlert! reports, “It was 1959. Jules Hirsch, a research physician at Rockefeller University, had gotten curious about weight loss in the obese.”

“Genetic roots of bipolar disorder revealed by first genome-wide study of illness” non-gov warning icon
(May 8) EurekAlert! reports, “The likelihood of developing bipolar disorder depends in part on the combined, small effects of variations in many different genes in the brain, none of which is powerful enough to cause the disease by itself, a new study shows.”

“Loss of a single gene in kidney cancer cells causes them to stop making mitochondria” non-gov warning icon
(May 8) News-Medical.Net reports, “Studying a rare inherited syndrome, researchers at Johns Hopkins have found that cancer cells can reprogram themselves to turn down their own energy-making machinery and use less oxygen, and that these changes might help cancer cells survive and spread.”

“A look at a rare genetic disorder called CFC Syndrome” non-gov warning icon
(May 7) KSBY reports, “A ten year old Utah boy is getting ready to go to Florida to rendezvous with other kids, just like him, who have a rare genetic disorder.”

“Gene patenting -- steep cost for health care and patients” non-gov warning icon
(May 7) EurekAlert! reports, “The drug trastuzumab (Herceptin) is used to treat HER2-positive breast cancer (a type of breast cancer that overexpresses the HER2 gene and accounts for about 25% of all breast cancers).”

“Is there a genetic basis to race after all?” non-gov warning icon (last accessed 2/2008)
(May 7) Discover reports, “Geneticists are uncovering another level of human ethnic diversity: It may not be which genes we have so much as the way they behave that accounts for our differences.”

“One genetic mutation heals another in blistering skin disease” non-gov warning icon
(May 7) Science Daily reports, “Mutations in the laminin beta 3 (LAMB3) gene cause the blistering skin disease epidermolysis bullosa (EB).”

“UCSF-led team receives $15 million to study genetics of epilepsy” non-gov warning icon
(May 7) Medical News Today reports, “A team led by UCSF scientists has received a grant of $15 million, provided over five years, to study the complex genetic factors that underlie some of the most common forms of epilepsy.”

“New hope for patients with premature aging condition progeria” non-gov warning icon
(May 6) News-Medical.Net reports, “There is renewed hope for treatment of a rare genetic condition that causes rapidly accelerated aging and leads to an average life expectancy of 13 years.”

“New gene discovered in human stem cells may benefit transplant patients” non-gov warning icon
(May 5) Medical News Today reports, “Oxford scientists have revealed a link between a gene and the activity of human blood stem cells, giving hope that stem cell transplant success for blood cancer patients may be significantly improved.”

“Major heart disease risk predicted by genes” non-gov warning icon
(May 4) Medical News Today reports, “Scientists in Canada have found a piece of DNA in the human genome that increases some people's risk of getting heart disease by up to 40 per cent, regardless of other factors such as cholesterol, high blood pressure and diabetes.”

“Researchers learn more about genetic mutation linked to autism” non-gov warning icon
(May 4) EurekAlert! reports, “University of Iowa researchers have learned more about a genetic mutation that contributes to autism.”

“DNA mutation raises heart disease risk in whites” non-gov warning icon (last accessed 2/2008)
(May 3) Reuters Health reports, “hunt for genes has found that up to three quarters of people of European descent have DNA that raises their risk for heart disease -- and these genes are close to a stretch of DNA linked to diabetes.”

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Genomics in Scientific Literature
Featured Item

TCF7L2 is reproducibly associated with type 2 diabetes in various ethnic groups: a global meta-analysis
Cauchi S, et al.
J Mol Med 2007 May

Genetic variability in inflammation pathways and prostate cancer risk
Sun J, et al.
Urol Oncol 2007 May-2007 Jun;25(3):250-9

Mitochondrial DNA-related Disorders
Mancuso M, et al.
Biosci Rep 2007 May

CDC Sponsored Materials Statistical models for haplotype sharing in case-parent trio data
Allen AS & Satten GA
Hum Hered 2007;64(1):35-44

Genetic research into Alzheimer's Disease: a European focus group study on ethical issues
van der Vorm A, et al.
Int J Geriatr Psychiatry 2007 May

Pharmacogenetics of metformin response: a step in the path toward personalized medicine
Reitman ML & Schadt EE
J Clin Invest 2007 May;117(5):1226-9

An overview of methods for detection of factor V Leiden and the prothrombin G20210A mutations
Cooper PC & Rezende SM
Int J Lab Hematol 2007 Jun;29(3):153-62

Case-control inference of interaction between genetic and nongenetic risk factors under assumptions on their distribution
Shin JH, et al.
Stat Appl Genet Mol Biol 2007;6:Article13

Inherited Thrombophilia: Key Points for Genetic Counseling
Varga E
J Genet Couns 2007 May

Using Adult Learning Theory Concepts to Address Barriers to Cancer Genetic Risk Assessment in the African American Community
Kendall J, et al.
J Genet Couns 2007 May

Information Processing in the Context of Genetic Risk: Implications for Genetic-Risk Communication
Etchegary H & Perrier C
J Genet Couns 2007 May

Estimating cancer risk in HNPCC by the GRL method
Alarcon F, et al.
Eur J Hum Genet 2007 May

Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene
Calderon FR, et al.
Hum Mutat 2007 May

Sickle cell disease: a multigenic perspective of a single gene disorder
Kutlar A
Hemoglobin 2007;31(2):209-24

Pharmacogenomics of Renin Angiotensin System Inhibitors in Coronary Artery Disease
Tsikouris JP & Peeters MJ
Cardiovasc Drugs Ther 2007 May

Ancillary risk information and pharmacogenetic tests: social and policy implications
Henrikson NB, et al.
Pharmacogenomics J 2007 May

Genetics of human longevity with emphasis on the relevance of HSP70 as candidate genes
Singh R, et al.
Front Biosci 2007;12:4504-13

SNPs associated with prostate cancer risk and prognosis
Naylor SL
Front Biosci 2007;12:4111-31

Outcome measures for clinical genetics services: A comparison of genetics healthcare professionals and patients' views
Payne K, et al.
Health Policy 2007 May

Family History
 In The News

No news articles this week.

 

 In The Scientific Literature

Estimates of heritable and environmental components of familial breast cancer using family history information
Couto E & Hemminki K
Br J Cancer 2007 May

Analysis of family incidence of cleft lip and/or palate
Kot M & Kruk-Jeromin J
Med Sci Monit 2007 Apr;13(5):CR231-4

Lack of evidence for increased genetic loading for autism among families of affected females: A replication from family history data in two large samples
Goin-Kochel RP, et al.
Autism 2007 May;11(3):279-86

Genetic Testing
 In The News

“Study to probe how healthy younger adults make use of genetic tests”
(May 3) NIH reports, “The National Human Genome Research Institute (NHGRI) and the National Cancer Institute (NCI), parts of the National Institutes of Health (NIH), have teamed with Group Health Cooperative in Seattle and Henry Ford Health System in Detroit to launch a study to investigate the interest level of healthy, young adults in receiving genetic testing for eight common conditions.”

 

 In The Scientific Literature

Screening for mutations in the cystic fibrosis transmembrane regulator gene in an infertility clinic
Slostad J, et al.
Fertil Steril 2007 May

Genetic information: Special or not? Responses from focus groups with members of a health maintenance organization
Diergaarde B, et al.
Am J Med Genet A 2007 Mar;143(6):564-9

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HuGE Published Literature [ back to top ]

Articles that report on population prevalence of genotypes, gene-disease associations, gene-environment and gene-gene interactions and evaluation of genetic tests. For more information on HuGE, please visit the HuGENet™ home page

For the week ending May 9, 2007, there are HuGE articles in the following areas:

Infectious and Parasitic Diseases
Neoplasms
Endocrine, Nutritional and Metabolic Diseases
Diseases of the Blood and Blood-Forming Organs Disorders
Mental Disorders
Diseases of the Nervous System and Sense Organs
Diseases of the Circulatory System
Diseases of the Respiratory System
Diseases of the Digestive System
Diseases of the Genitourinary System
Diseases of the Musculoskeletal System and Connective Tissue
Congenital Anomalies
Injury and Poisoning

For more information on HuGE, please visit the HuGENet™ home page

 

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Page last reviewed: May 10, 2007 (archived document)
Content Source: National Office of Public Health Genomics