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- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
Research Training
Two-year fellowships for M.D.s and Ph.D.s in cytogenetics, biochemical genetics and molecular genetics.
… to oversee and interpret cytogenetic and molecular genetic tests important in the diagnosis and management of human genetic disorders. … To gain the requisite laboratory … Hospital in Washington, DC. Fellows also gain clinical and genetic counseling exposure by seeing patients with genetic …
Educational Resources
An oncogene is a mutated gene that contributes to the development of a cancer.
… of a cancer. … Carcinogen, Mutagen, Cancer, Cell, Mutation, Tumor Suppressor Gene … An oncogene is a mutated …
Educational Resources
A genetic marker is a DNA sequence with a known physical location on a chromosome.
… Genetic Marker … A genetic marker is a DNA sequence with a known physical location on a chromosome. … Genetic Marker, DNA Sequence, Chromosome, Genetic Disease, Inheritance … A genetic marker is a DNA …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… Many human diseases have a genetic component. Some of these conditions are under … Human Genome Research Institute (NHGRI). … This list of genetic, orphan and rare diseases is provided for … the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in …
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
… physicians to diagnose, manage and counsel patients with genetic disorders. … The Medical Genetics Residency Program exposes students to rare genetic disorders that might not be seen in a more typical … NIH provide extensive experience with common inherited / genetic diseases in both inpatient and outpatient settings …
Educational Resources
Substitution is a type of mutation where one base pair is replaced by a different base pair.
… Substitution … Substitution is a type of mutation where one base pair is replaced by a different base … Acids, Base Pair, Deoxyribonucleic Acid (DNA), Inherited, Mutation, Nonsense Mutation, Point Mutation … Substitution, as related to …
Educational Resources
Genetic drift is a mechanism of evolution. It refers to random fluctuations in the frequencies of alleles from generation to generation due to chance events.
… Genetic Drift … Genetic drift is a mechanism of evolution. It refers to … from generation to generation due to chance events. … Genetic Drift, Evolution, Population Genetics, Genes … Genetic drift is a mechanism of evolution characterized by …
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… Genetic testing uses laboratory methods to look at your … you inherit from your mother and your father. … Genetic tests may be used to identify increased risks of … testing may be beneficial whether the test identifies a mutation or not. For some people, test results serve as a …
Educational Resources
Duplication is a type of mutation that involves the production of one or more copies of a gene or region of a chromosome.
… Duplication … Duplication is a type of mutation that involves the production of one or more copies of a gene or region of a chromosome. … Mutation, Chromosome, Genes, Evolution … Duplication, as … prominent in plants, although they can also cause genetic diseases in humans. Duplications have been an …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… issue of M olecular Genetics and Metabolism . … A single mutation in the Gaucher disease gene, GBA1, is frequently … percent of patients with Parkinson's disease carry a GBA1 mutation. Dr. Sidransky has conducted research on Gaucher … Between Diseases … Related Content … Mouse model for rare genetic disease advances understanding of Parkinson's … NHGRI …