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Apr 10, 2013 · Leave a Reply

JAMA Tackles Genomics

By Center for Individualized Medicine @samuelsmith5209

In an edition dedicated to the delivery of individualized medicine, the Journal of the American Medical Association (JAMA) today reports on several promising studies that could help doctors and patients use genomics to take more control of their health.

Among the highlights is the discovery that a particular gene could help identify risk of late-onset Alzheimer's in African Americans. Researchers from the Alzehimer's Disease Genetics Consortium conducted a genome-wide association study (GWAS) of 1,968 African Americans with late-onset Alzheimer's and found that particular changes on the ABCA7 gene may be associated with Alzheimer's in Blacks. It is the largest known genome-wide association study (GWAS) to date of late-onset Alzheimer's in African Americans, according to the study authors.

"If validated by future replication and functional studies, identification of ABCA7 as a risk gene in LOAD [late-onset Alzheimer's disease] among African Americans not only may help elucidate the disease etiology but also may have major implications for developing targets for genetic testing, prevention, and treatment," the authors write.

Nilufer Ertekin-Taner, M.D., Ph.D., and Neill Graff-Radford, M.D., of Mayo Clinic Florida contributed to the study and JAMA article.

Two other notable contributions from Mayo Clinic authors include:

  • A Viewpoint article from Christopher Chute, M.D., Dr. P.H. (Mayo Clinic), and Isaac Kohane, M.D., Ph.D. (Harvard Medical School), who make a compelling case for better standards in how researchers and physicians report, share, and ultimately integrate their work into patient care.
  • A new understanding for as many as 5 percent of otherwise inexplicable stillbirths. Long QT syndrome is a genetic abnormality in the heart's electrical system, and may underlie thousands of stillbirths every year, according to study co-senior author Michael Ackerman, M.D., Ph.D., a Mayo Clinic pediatric cardiologist. Peter J. Schwartz, M.D., of the University of Pavia, Italy, was the other co-senior author.

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