Search Results
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… Dr. Huizing investigates rare human genetic disorders and associated intracellular processes in order to gain … research focuses on disorders of sialic acid metabolism and of lysosome-related organelles. Sialic acid is a … at the end of glycoconjugate chains on glycoproteins and glycolipids. These chains are present on the cell surface …
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. … career using genomics to understand human health and disease.  New members are elected to the National … M.D., Ph.D., NIH Distinguished Investigator in the NHGRI Medical Genetics Branch. "Eric has catalyzed making genomics …
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 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. …
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.
… 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 …
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.
… 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 …
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 disease. …
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 … are health care professionals with specialized degrees and experience in medical genetics and counseling. Genetics professionals … work as members of health care teams providing information and support to individuals or families who have genetic …
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.
… in the Center for Precision Health Research (CPHR) develop and evaluate cutting edge genomic and informatic tools to improve the diagnosis, treatment and prevention of disease to foster next-generation … Health Research (CPHR) (formerly the Medical Genomics and Metabolic Genetics Branch) was established in 2021 as a …