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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.
… beginning to use a new approach for assessing a person's inherited risk for diseases like Type 2 diabetes, coronary heart disease and … now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… Fragile X syndrome is an inherited intellectual disability caused by a mutation in the … FMR1 gene. … Fragile X syndrome is the most common form of inherited intellectual disability in males and is also a … are treated in the usual manner. … This condition is inherited in an X-linked dominant pattern. A condition is …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… of helping everyone else affected by CFZS and similar diseases in the future," said Mr. Hanson. "We've come a long …
Talking Glossary
Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders.
Event
NHGRI, National Institute of Environmental Health Sciences (NIEHS) and National Cancer Institute (NCI) will host a pre-application interactive webinar for the Multi-Omics for Health and Disease program funding opportunity announcements (FOAs): RFA-HG-22-008,
RFA-HG-22-009 and RFA-HG-22-010.
Educational Resources
A genetic marker is a DNA sequence with a known physical location on a chromosome.
… location on a chromosome. Genetic markers can help link an inherited disease with the responsible gene. DNA segments close to each other on a chromosome tend to be inherited together. Genetic markers are used to track the …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… Genetics Branch (MGB) seeks to identify and understand inherited disorders of metabolism and of human development. … Genetics Branch … The Medical Genetics Branch studies inherited disorders of metabolism and of human development. ​ … The Medical Genetics Branch studies inherited disorders of metabolism and of human development. … …
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
Educational Resources
A haplotype is a set of DNA variations, or polymorphisms, that tend to be inherited together.
… a set of DNA variations, or polymorphisms, that tend to be inherited together. … Haplotype, Chromosomes, Single … of genomic variants (or polymorphisms) that tend to be inherited together. A specific haplotype typically reflects a … a set of DNA variations, or polymorphisms, that tend to be inherited together. … Educational Resources …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems. … Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles … treated. … Both Type 1 and Type 2 myotonic dystrophy are inherited in families in an autosomal dominant pattern. In …