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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
NHGRI has selected Charles Venditti, M.D., Ph.D., as chief of its Metabolic Medicine Branch within the Institute’s Intramural Research Program. In this role, he will provide leadership and guidance on research into genetic diseases that disrupt metabolism.
… on the development of new therapies for patients with genetic disorders. … The National Human Genome Research … he will provide leadership and guidance on research into genetic diseases that disrupt metabolism. “Dr. Venditti has … to patients. The Metabolic Medicine Branch focuses on genetic conditions that affect the body’s metabolism. These …
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. …
News Release
More research must be done to understand the interactions of ancient genes with modern environments.
… have made a good start in identifying and understanding genetic mutations that have evolved over thousands of years … sickness, but today Africans and people of African ancestry with these genetic mutations have a higher risk of kidney disease. …
Staff
Dr. Edward Giniger is an adjunct investigator in NHGRI's Genetics and Molecular Biology Branch.
Staff
Dr. Daniel Shriner is a researcher in NHGRI's Center for Research on Genomics and Global Health.
… as well as investigation into global patterns of human genetic variation. Applied research includes mapping genetic variants that influence obesity and anthropometric … association for renal traits among participants of African ancestry reveals new loci for renal function. PLoS Genet ., …
News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… sickle cell disease, which takes advantage of the latest genetic discoveries and technological advances to move the most promising genetic-based curative therapies safely into clinical trials. … in treatment for sickle cell disease, the first human genetic disease that was understood at the protein and DNA …
Staff
Dr. Settara Chandrasekharappa is an associate investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… genomic and cDNA libraries for genome research in genetic diseases. In 1993, Dr. Chandrasekharappa joined the … CGU developed resources and aided in the construction of genetic, physical and transcript maps of the locus on 17q. …
Staff
Dr. Paul Meltzer is an adjunct investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… to cancer research. His recent studies investigate the genetic and epigenetic basis of cancers in adult and …
Staff
Dr. David Bodine is the chief of and senior investigator in NHGRI's Genetics and Molecular Biology Branch.