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.
Two other notable contributions from Mayo Clinic authors include:
- 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.