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 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.
On November 21, 2017, experts from NHGRI's Social and Behavioral Research Branch (SBRB) turned to a Reddit "Ask Me Anything" (AMA) to answer questions about their work on family health history. AMA hosts were Laura Koehly, Ph.D., SBRB chief, Chris Marcum, Ph.D., a staff scientist, and Jielu Lin, Ph.D., a post-doctoral fellow. The team answered questions from how to change behaviors after learning disease risk through family health history, to understanding risk when family health history is unknown. Here, we recap the event.
Precision medicine is a revolutionary approach to healthcare that takes into account individual differences in lifestyle, environment - and especially our genomes. However, a recent paper suggested that some people are being left behind. NHGRI recently published a perspective that lays out the challenges to achieving diversity in genomics research and what we are doing to help. Check out the new Nature Review Genetics publication that appeared online (ahead of print) on November 20.