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NIH

The National Human Genome Research Institute conducts genetic and genomic research, funds genetic and genomic research and promotes that research to advance genomics in health care.

Highlights

Genomics History

NHGRI oral history collection features influential genomics researchers

A collection of oral histories released today by the National Human Genome Research Institute (NHGRI) features candid conversations with pioneering scientists involved in the Human Genome Project and a rare discussion with all three institute directors since the organization was established in 1989. In each oral history, influential scientists offer extensive insight into science and medicine, as well as biographical details and commentary on the inner workings of NHGRI and its foundational initiatives that transformed the way people think about the human genome.

Angela Anderson, a 22-year-old woman who died from the fatal genetic disorder, Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis, or SJS/TEN.

NIH probes the genome to understand severe drug reaction

Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis, or SJS/TEN, is the severest of adverse drug reactions that affects the skin. NHGRI's Division of Genomic Medicine supports research to develop approaches for the use of genome sequencing and other tools to improve diagnosis, treatment and prevention of diseases, such as SJS/TEN, that might have saved a young woman's life.

Facial recognition software to diagnose DiGeorge Syndrome

Facial recognition software helps diagnose rare genetic disease

Researchers with NHGRI and their collaborators have successfully used facial recognition software to diagnose DiGeorge Syndrome, a rare, genetic disease in Africans, Asians and Latin Americans. This is the newest addition to the Atlas of Human Malformations in Diverse Populations launched last year. The study was published March 23, 2017, in the American Journal of Medical Genetics.

Patient with the doctor

Study identifies African-specific genomic variant associated with obesity

An international team of researchers has conducted the first study of its kind to look at the genomic underpinnings of obesity in continental Africans and African Americans. They discovered that approximately 1 percent of West Africans, African Americans and others of African ancestry carry a genomic variant that increases their risk of obesity and provides insight into why obesity clusters in families. The findings were published March 13, 2017, in the journal Obesity.

Dr. William Gahl and Dr. Cynthia Tifft answer questions for the March 3, 2017, Reddit AMA

The UDN joins forces with Reddit for an "AMA"

On March 3, 2017, in honor of Rare Disease Day, experts from the Undiagnosed Diseases Network (UDN) turned to Reddit to answer questions from the Reddit community as part of an "Ask Me Anything" (AMA). These rare disease clinical and research experts have joined forces to solve the world's most challenging medical mysteries. Supported by the NIH Common Fund, UDN uses genome sequencing in the clinic, along with a network of experts, to provide answers for patients and families affected by mysterious conditions. Here's a recap of the event.