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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)1
- 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
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… his B.S. in biology from the Massachusetts Institute of Technology in 1972 and his M.D. from the University of … of rare metabolic disorders and the discovery of new genetic diseases. He elucidated the basic defects in cystinosis and …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… received his B.S. in animal science from the University of Massachusetts, Amherst, and his Ph.D. in physiology from … a research program focused on using genomic tools and genetic manipulation of model systems to decipher genome … His primary areas of interest include the development and diseases of melanocytes, the cells responsible for …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… Dr. Sidransky, chief of the Molecular Neurogenetics Section, is a pediatrician and … therapeutic strategies for both rare and common neurologic diseases. Over the past two decades the Sidransky group has … mechanisms, and to tackle the challenge of identifying genetic modifiers. Although GD is classically divided into …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… Dr. Daniel Kastner in the Intramural Research Program of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) to work as a post-doctoral fellow on the … … For almost 30 years, Dr. Aksentijevich has used genetic and genomic approaches to understand human …
Staff
Dr. Pamela Schwartzberg is a adjunct investigator in NHGRI's Genetic Disease Research Branch.
… and her M.D. and Ph.D. degrees from the Columbia College of Physicians and Surgeons, Columbia University. During her … M.D., National Institute of Allergy and Infectious Diseases). She started her own laboratory at the National … in 2003. Her laboratory's work has centered on the use of genetic, biochemical and cellular studies to understand T …
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… Lindsey A. Criswell, M.D., M.P.H., D.Sc., became director of NIAMS in February 2021. Previously, she served as vice … from the University of California, Berkeley; a D.Sc. in genetic epidemiology from the Netherlands Institute for … Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… in childhood without an obvious cause - affects 1-2% of all children, accounting for about 40% of all hypertension … the disease has been supported, it is unclear whether this genetic risk mirrors that observed in adults (multiple genes … small effects) or is more consistent with rare Mendelian diseases that are more striking in childhood (single genes …
Staff
Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
… M.D. … Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of the Medical Genetics Branch at the National Human Genome … 2000 patients with novel and established autoinflammatory diseases. … Dr. Ombrello has played a significant role in …
Staff
Barbara Thomas is a scientific review officer for the Center for Inherited Disease Research (CIDR).
… Barbara Thomas, Ph.D. … Dr. Barbara Thomas is the Scientific Review Officer and Executive Director of the NIH Center for Inherited Disease Research (CIDR) , a … University. Dr. Thomas is involved with all aspects of the program, including peer review of grant applications, …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… in 1973 and a Ph.D. and M.D. from Baylor College of Medicine by 1982. After completing Internal Medicine … his career at the NIH Dan’s research has focused on using genetic and genomic strategies to understand inherited … Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) that mapped the gene for FMF to chromosome …