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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… and investigate the health consequences of their genes and gene variants. … Reversing a Long-Standing Paradigm To … them to recall genotyped people and examine the genes and gene variants' influence on their phenotypes, an individual's … traits or symptoms and then searching for genes or gene variants that cause or contribute to them. NIH will …
Event
NHGRI, NICHD, NIMH, and ORIP program staff held a pre-application webinar with an interactive Q&A session for the Non-Human Primate Developmental Genotype-Tissue Expression (NHP dGTEx) Project.
… - Non-Human Primate Developmental Genotype-Tissue Expression (NHP dGTEx) Project (U24 Clinical Trials Not … for the Non-Human Primate Developmental Genotype-Tissue Expression Project funding opportunities and answer questions … … Webinar: Non-Human Primate Developmental Genotype-Tissue Expression (NHP dGTEx) RFA-HG-21-026 … NHGRI, NICHD, NIMH, …
News Release
Researchers identified 13 gene regions that influence cholesterol levels, some of which affected people differently if they are smokers or former smokers.
… researchers and their collaborators identified 13 new gene regions that influence cholesterol levels, some of which … smoking affected the relationship between an individual's gene variants and their lipids. Lipids consist of low-density … African ancestry. This enabled researchers to find new gene regions associated with lipids that could not be found …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… intellectual disability caused by a mutation in the FMR1 gene. … Fragile X syndrome is the most common form of … are caused by an alteration (mutation) in the FMR1 gene where a DNA segment, known as the CGG triplet repeat, is … expanded CGG segment inactivates (silences) the FMR1 gene, which prevents the gene from producing a protein called …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… form of muscular dystrophy caused by a mutation in the DMD gene. … DMD is a rapidly progressive form of muscular … in boys. It is caused by an alteration (mutation) in a gene, called the DMD gene that can be inherited in families in an X-linked …
Event
The 2018 meeting focused on KOMP's collaborations with various human disease gene discovery programs.
… on KOMP's collaborations with various human disease gene discovery programs. The day featured talks and … on KOMP's collaborations with various human disease gene discovery programs. … The 2018 meeting focused on KOMP's collaborations with various human disease gene discovery programs. … Event …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… kidney transplant. … WAGR syndrome is called a "contiguous gene deletion syndrome." This means that it is caused by the … of the baby's development in the womb. More rarely, the gene changes are inherited because one of the parents carries …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… one in 40,000 live births. … Achondroplasia is caused by a gene alteration (mutation) in the FGFR3 gene. The FGFR3 gene makes a protein called fibroblast growth factor receptor …
Genetic Disorders
Colon cancer is a malignant tumor of the large intestine that affects both men and women.
… FAP (familial adenomatous polyposis) So far, only one gene has been discovered that leads to FAP: the APC gene, located on human chromosome 5. However, over 300 different mutations have been identified in this APC gene. Individuals with this syndrome develop many polyps in …
Genetic Disorders
Breast cancer is the second most common cancer in women after skin cancer.
… But hereditary breast cancer - caused by a mutant gene passed from parents to their children - is rare. … as 27 percent of all breast cancers. In 1994, the first gene associated with breast cancer - BRCA1 (for BReast … was identified on chromosome 17. A year later, a second gene associated with breast cancer - BRCA2 - was discovered …