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Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… genetics fellowships at the NIH's Interinstitute Medical Genetics Training Program, which he directed from … biochemical geneticists. He established American Board of Medical Specialties certification for medical biochemical genetics. He served on the board of …
News Release
After several decades as a major genomics leader, Eric Green is elected to the National Academy of Medicine, one of the highest honors in medical science.
… National Academy of Medicine, one of the highest honors in medical science. … The National Academy of Medicine has … M.D., Ph.D., NIH Distinguished Investigator in the NHGRI Medical Genetics Branch. "Eric has catalyzed making genomics … Chemistry. He has also been honored several times by his medical and graduate school alma mater, Washington University …
Talking Glossary
A polygenic risk score (abbreviated PRS) uses genomic information alone to assess a person’s chances of having or developing a particular medical condition.
… a person’s chances of having or developing a particular medical condition. … A polygenic risk score (abbreviated PRS) … a person’s chances of having or developing a particular medical condition. A person’s PRS is a statistical … a person’s chances of having or developing a particular medical condition. … Talking Glossary …
Educational Resources
An animal model is a non-human species used in medical research because it can mimic aspects of a disease found in humans.
… Model … An animal model is a non-human species used in medical research because it can mimic aspects of a disease … humans. … An animal model is a non-human species used in medical research because it can mimic aspects of a disease …
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… Center for Precision Health Research (CPHR) (formerly the Medical Genomics and Metabolic Genetics Branch) was … interrogate the genome and the phenome using large-scale electronic healthcare and research datasets to identify novel … … The Center for Precision Health Research, formerly the Medical Genomics and Metabolic Genetics Branch, studies how …
Educational Resources
Genetic epidemiology is a relatively new medical discipline that seeks to understand how genetic factors interact with the environment in the context of disease in populations.
… Epidemiology … Genetic epidemiology is a relatively new medical discipline that seeks to understand how genetic … in populations. … Genetic epidemiology is a relatively new medical discipline that seeks to understand how genetic …
Staff
Dr. Suzanne Hart was the deputy director of the Medical Genetics and Genomic Medicine Fellowship Training Program until she retired in late 2023.
… in 1985. She earned her Ph.D. in Human Genetics from the Medical College of Virginia (now called Virginia Commonwealth … She is an ABMG board-certified clinical biochemical and medical geneticist. She completed her postdoctoral training … joined NHGRI in 2003. She was the deputy director of the Medical Genetics and Genomic Medicine Fellowship Training …
Staff
Dr. Nephi Walton is a clinical geneticist and medical informaticist. He served as a program director for the National Human Genome Research Institute (NHGRI) AnVIL Clinical Resource from 2024-2025.
… FACMG … Dr. Nephi Walton is a clinical geneticist and medical informaticist. He served as a program director for … has successfully integrated genomic information into electronic medical records with the two most prominent EHR vendors. His …
Fact Sheets
A biological pathway is a series of actions among molecules in a cell that leads to a certain product or a change in the cell.
Research Training
Two-year fellowships for M.D.s and Ph.D.s in cytogenetics, biochemical genetics and molecular genetics.
… biochemical genetics and molecular genetics. … Medical Genetics Fellowship Training Program, Laboratory … Genetics and Genomics Fellowship, Training Program, Medical Genetics, Cytogenetics, Biochemical Genetics, …