Precision medicine will largely be built on vast troves of genomic information, but diverse populations are still underrepresented in public genomic databases, according to a new study by researchers from Partners Healthcare/Harvard Medical School and the National Institutes of Health. They found significantly fewer studies of African, Latin American and Asian ancestral populations compared to European populations in two public databases. Findings were published online May 7 in Health Affairs.
Researchers at the National Institutes of Health and the University of Alabama have discovered a connection between the genes that contribute to hair color and the genes that control the body's immune system. This new mouse study offers insights into why some people's hair goes gray in response to a serious illness or chronic stress.They published their findings May 3, 2018, in PLOS Biology.
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations. By adding highly accurate images and clinical information of diverse people with Williams-Beuren Syndrome, healthcare providers will better recognize and diagnose the rare disease in non-Europeans and deliver critical, early interventions and better medical care. Results are published in the May 2018 issue of the American Journal of Medical Genetics.
The National Human Genome Research Institute's Division of Intramural Research presented the 14th Jeffrey M. Trent Lecture in Cancer Research on March 15, 2018, 12:00 - 1:00 p.m., at the Lipsett Amphitheater, Building 10 (Clinical Center), on the National Institutes of Health (NIH) Bethesda campus. Joan Brugge, Ph.D., co-director, Ludwig Center at Harvard Medical School, delivered the lecture Role of the TRPA1 Ca2+-permeable Channel in Oxidative Stress Defenses in Cancer. Video is now available.
NHGRI researchers used whole genome sequence data to pinpoint the single origin of the sickle cell mutation to the "wet" period of the Sahara 7,300 years ago. The mutation causes blood hemoglobin to be crescent shaped, reducing its ability to carry oxygen. Charles N. Rotimi, Ph.D., study co-author and NHGRI senior investigator, said the finding overturns previous theories that the cell mutation arose in multiple locations. This will help clinicians redefine sickle cell subgroups and treat patients more effectively, said lead author Daniel Shriner, Ph.D. Read more in the March 8 American Journal of Human Genetics.