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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
Genomicists and clinicians are beginning to offer patients genetic testing for a list of treatable diseases apart from the one that brought them into the clinic.
… understand their treatment options. "Most people seek out genetic testing because they know of a strong family history … for a certain disease," said Katie Lewis, Sc.M., CGC, a genetic counselor in the program. "But for those individuals … those who do take action and those who do not can help genetic counselors target their efforts to assist an …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… decreases the risk of stroke  in children with a rare genetic disease called DADA2 (deficiency of adenosine … decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type … decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type …
News Release
The Social Genomics Project aims to understand what people around the world think about the intersections between genomics, genetics and society.
News Release
Researchers at the National Institutes of Health (NIH) question advertisements by direct-to-consumer genetic ancestry kits that claim to know what it really means to be American Indian.
… at NHGRI question advertisements by direct-to-consumer genetic ancestry kits that claim to know what it really means … to Alaska in July of 2018 to give a talk on ethics and genetic ancestry tests, researchers and community members … Their latest research focuses on direct-to-consumer (DTC) genetic ancestry kits. People who are interested in their …
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… by SCD to find the factors - environmental, social and genetic - that impact the severity of symptoms. They hope to … Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms. ​ … Sickle … Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms. … News Release …
Media Advisory
On January 25, 2023, the National Human Genome Research Institute will host a virtual roundtable to discuss social and behavioral genetics and genomics, including their benefits, limitations and potential for misuse.
… community must consider whether the misappropriation of genetic evidence has played any role in mass casualty events …
Event
NHGRI is conducting three Zoom-based listening sessions to help gather information from the national medical genetics community regarding the current and future state of the medical geneticist workforce.
News Release
NHGRI has selected Charles Rotimi, Ph.D., as the next scientific director. In this role, he will lead the institute’s Intramural Research Program, which conducts basic and clinical research to enable a greater understanding of human disease and to develop better methods to detect, prevent and treat genetic disorders.
… Sarah A. Bates, M.S. … Genetic epidemiologist and genomics researcher to lead … and to develop better methods to detect, prevent and treat genetic disorders. NHGRI is part of the National Institutes of Health. Dr. Rotimi is a leading genetic epidemiologist and genomics researcher with expertise …
News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… sophisticated technologies to diagnose, monitor and treat genetic conditions. Artificial intelligence tools , which … , find disease-causing genomic variants and identify genetic disorders by examining people’s faces . Researchers … compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how …
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… 2 Hilary Vernon, M.D., Ph.D. Associate Professor of Genetic Medicine, Johns Hopkins University 12:30 - 12:50 p.m. …