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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 …
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 … 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 …
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. …
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 …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… Dr. Merideth went to medical school at Johns Hopkins University School of Medicine and completed Obstetrics/Gynecology residency at the Mayo … completed a residency in Clinical Genetics at NHGRI and subspecialty fellowship training in Clinical Biochemical … include expanding the phenotype for rare diseases and genetic syndromes. She is also active in residency …
Professional Development Programs
JHU/NIH GCTP Executive Committee is composed of genetic counselors, social scientists and medical geneticists. Their varied backgrounds are an asset to the Program and to students as they develop their thesis.
… Leslie Biesecker, M.D. Director and NIH Distinguished Investigator Center for Precision … Neelon, Ph.D. Director for the Lerner Center The Helaine and Sydney Lerner Professor, Health, Behavior and Society Julie Cohen Director of Genetic Counseling … is composed of genetic counselors, social scientists and medical geneticists. Their varied backgrounds are an …
Research Training
Two-year fellowships for M.D.s and Ph.D.s in cytogenetics, biochemical genetics and molecular genetics.
… The Laboratory Genetics and Genomics Fellowship Training Program is a two-year … become laboratory directors with the expertise to oversee and interpret cytogenetic and molecular genetic tests important in the diagnosis and … rotate through a variety of CLIA-certified cytogenetic and molecular genetics diagnostic laboratories at the NIH and …
News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
… (MMA), a serious genomic disorder. Based on this finding, medical teams treating patients with MMA will be able to … to predict how severely patients' livers are affected and when to refer patients for liver transplants. … more common disorders such as fatty liver disease, obesity and diabetes by uncovering similarities in how MMA and these …