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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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.
… without leg ulcers. Participants will be seen at the NIH Clinical Center in Bethesda, Maryland. "We have organized a …
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.
… she said, reflecting on her latest study published in Genetics in Medicine in January. Walajahi is a bioethics … the opposite stance, promoting a causal link between genetics and identity. For example, eight companies claimed … a black and white science. “There is the notion that it is genetics so it must have a greater claim to legitimacy,” she …
News Release
NIH is awarding $5.4 million in first-year funding to establish a new program that supports the integration of genomics into learning health systems. As genomic testing becomes increasingly common, more and more genomic data are available in clinical settings, and learning health systems present an opportunity to translate this evidence quickly and directly into improvements in medical care.
… the United States, learning health systems are a type of clinical practice that bridges research and patient care. … common, more and more genomic data are available in clinical settings, and learning health systems present an … this network together to move genomic discoveries into clinical practice. Learning health systems present an …
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.
… Session 1 Moderator: Irini Manoli, M.D., Ph.D. Clinical Associate Investigator, NHGRI 10:05 - 10:30 a.m. … M.D., Ph.D. Director of Myelin Disorders Program and Fetal Genetics, Assistant Professor of Pediatrics, CNMC 3:00 - 3:20 … p.m. Enzyme Therapy for Homocystinuria: Research & Pre-clinical Development of PEG-CBS (OT-58, TVT-058) Tomas …
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.
… host a virtual roundtable to discuss social and behavioral genetics and genomics, including their benefits, limitations … understand complex social behavior. Panelists will discuss genetics and genomics studies that may be stigmatizing as … how the history of scientific racism and eugenics in genetics and genomics may limited the scientific community’s …
News Release
Dr. Shchelochkov will oversee the research training, fellowship and residency programs at the institute.
… appointed Oleg Shchelochkov, M.D., as the new director of Clinical and Laboratory Residencies and Fellowships. Dr. Shchelochkov, a clinical geneticist and medical biochemical geneticist, takes … many aspects of organic acidemias. After his early genetics training at Baylor College of Medicine, Dr. …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… Steven Benowitz … The Undiagnosed Diseases Network (UDN), a clinical research initiative of the National Institutes of … physicians have been unable to diagnose despite extensive clinical investigation. These diseases are difficult for … go through the Gateway, rather than through individual clinical sites in the network. The Gateway replaces what had …
News Release
In an article published in the American Journal of Human Genetics, researchers have found that words scientists use to describe populations have changed from 1949 to 2018.
… NIH, was published today in the American Journal of Human Genetics . For the field of genetics, the question of what makes a population is a … the historical use of these concepts in the context of genetics and genomics research,” said Vence Bonham Jr., J.D., …
News Release
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
NEWS RELEASE
Cristina Kapustij, M.S., was named chief of the NHGRI's Policy and Program Analysis Branch.
… continues to advance beyond the research laboratory toward clinical and other applications within society. These diverse … for parties interested in policy matters related to human genetics and genomics research. "While working on the Hill, I … NHGRI, Ms. Kapustij worked at the Institute for Human Genetics at the University of California, San Francisco …