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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program3
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
News Release
Diverse populations are still underrepresented in public genomic databases, according to a new study by researchers from the NIH and Harvard Medical School.
… Institutes of Health and Partners Healthcare/Harvard Medical School.* … Diverse Groups Underrepresented in Genomic … the study's first author and a genetics fellow at Harvard Medical School. The researchers noted that policies and … of Medicine at Massachusetts General Hospital. She is also medical director of the Broad Institute Clinical Research …
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 …
Fact Sheet
Pharmacogenomics is a growing area of genomic medicine that uses a person’s genomic information to help healthcare providers select the medications and dosages that are predicted to work best in each patient.
… reaction.   Pharmacogenomics is part of the growing medical areas of genomic medicine and precision medicine … the past who are taking multiple medications or have other medical conditions that may affect how they respond to … testing is not yet available for every medication or every medical condition. However, scientists have identified over …
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 …
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.
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 …