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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.


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.

NIH and USDA scientists publish goat genome sequence

NIH and USDA researchers have developed a new technique for reconstructing highly accurate reference genomes and have applied it to the domestic goat. Accurate reference genomes are important for understanding an organism's biology, for learning about the genetic causes of health and disease and, in animals, for making breeding decisions. The study was published March 6, 2017, in Nature Genetics.

Eric Green, M.D., Ph.D.

Rare disease research, DNA Day and feedback for the dbGap

This month's The Genomics Landscape, takes a look at rare disease research at NHGRI (Rare Disease Research: Not So Rare) and sends out a reminder to celebrate National DNA Day on April 25th by encouraging STEM education and outreach programs to hold local events. Dr. Green also calls attention to a Request for Information (RFI) that asks for feedback on the data-submission and data-access process to help streamline and enhance data management and data sharing.