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Information about genetics and genomics, rare diseases, patient care and more

For Patients and the Public

Health professional with a tablet showing genomic data

Detailed information about genetic disorders, background on genetic and genomic science, pharmacogenomics, family health history tool and online health resources

For Health Professionals


Genetics and genomics information related to patient management, education, NIH and NHGRI research and ethical, legal and social issues


Researchers pinpoint origin of sickle cell mutation

Sickle Cell 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.

Reddit "Ask Me Anything" Recap: The importance of knowing your family health history

Koehly Lab membersOn 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. 

Prioritizing diversity in human genomics research

Precision MedicinePrecision 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.