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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.
… from the Massachusetts Institute of Technology in 1972 and his M.D. from the University of Wisconsin in 1976. He … McArdle Laboratories for Cancer Research in 1981 and served as pediatric resident and chief resident at the … genetics fellowships at the NIH's Interinstitute Medical Genetics Training Program, which he directed from …
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 … career using genomics to understand human health and disease.  New members are elected to the National … improving health for all through scientific advancements and promoting health equity. Dr. Green’s membership speaks to …
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 … in humans. Animal models (e.g., mice, rats, zebrafish and others) are sufficiently like humans in their anatomy, … animal model studies to better understand human physiology and disease. By using animal models, researchers can perform …
News Release
NHGRI is awarding Genomic Innovator Awards to nine institutions to support the research of 12 early career scientists in the field of genomics. The awards will total up to $27 million over five years.
… by genomics investigators who are early in their careers and part of consortia or other team-science efforts. Six … genomics, including CRISPR technologies, genomic medicine, and genomic studies in historically marginalized populations. … core facility director at the University of Nebraska Medical Center, Omaha, and 2019 award recipient. "A …
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 … factors influence human traits, such as human health and disease. In many cases, the interaction of genes with the … seek to understand the causes, distribution and control of inherited disease in groups and the …
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 … University) in 1990. Her doctoral thesis was "Biochemical and Immunological Characterization of Serum Biotinidase in Normal and Biotinidase-deficient States." She is an ABMG …
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.
… of new molecules, such as a fat or protein, turn genes on and off, or spur a cell to move. … For your body to develop properly and stay healthy, many things must work together at many … levels - from organs to cells to genes. From both inside and outside the body, cells are constantly receiving chemical …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… work as members of health care teams providing information and support to individuals or families who have genetic … professionals with specialized degrees and experience in medical genetics and counseling. Genetics professionals … when indicated. Weigh the medical, social and ethical decisions surrounding genetic testing. Provide support and …
Talking Glossary
A secondary genomic finding refers to a genomic variant, found through the analysis of a person’s genome, that is of potential medical value yet is unrelated to the initial reason for examining the person’s genome.
… the analysis of a person’s genome, that is of potential medical value yet is unrelated to the initial reason for … the analysis of a person’s genome, that is of potential medical value yet is unrelated to the initial reason for … that could change the medical management of that patient and potentially prevent or more effectively treat the …