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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
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 …
Staff
Dr. Klein is an Adjunct Investigator in NHGRI’s Center for Precision Health Research, where he collaborates on several projects involving genetic risk communication
… where he collaborates on several projects involving genetic risk communication. His main appointment is as … psychological functioning. In recent work, he has studied genetic testing decisions. Dr. Klein's work has appeared in … member of the Executive Committee of the joint NIH/Hopkins Genetic Counseling graduate program, where he teaches a …
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 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
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. …
Staff
Jie Zhou is a data manager and SAS programmer at NHGRI's Center for Research on Genomics and Global Health.
… management and analysis. She has applied her SAS skills to genetic epidemiology, clinical trials, and biotechnology. She … participation and comprehension of informed consent in a genetic epidemiological study of breast cancer in Nigeria. … G, Zhou J, Shriner D, Doumatey A, Huang H, Rotimi C. FTO genetic variation and association with obesity in West …
Staff
Dr. Edward Giniger is an adjunct investigator in NHGRI's Genetics and Molecular Biology Branch.