Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- 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
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
… study demonstrated that having just one risk variant in a gene known as APOL1 can significantly increase the risk of … is important for the immune system and variants of the gene are linked to increased risk of chronic kidney disease. … found that having a risk variant in one copy of the APOL1 gene increases the risk of developing chronic kidney disease, …
News Release
NHGRI has selected Charles Venditti, M.D., Ph.D., as chief of its Metabolic Medicine Branch within the Institute’s Intramural Research Program. In this role, he will provide leadership and guidance on research into genetic diseases that disrupt metabolism.
… treatments for these metabolic disorders, including gene therapies and pharmaceuticals. Branch investigators also …
News Release
Researchers have released a new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available.
… (2023). Vollger et al. Increased mutation rate and gene conversion within human segmental duplications . Nature …
News Release
Research points to the effects of nutrients in how DNA mutates in the mitochondria.
… In some of the mice, the researchers manipulated one gene to make it harder to absorb vitamin B12, mimicking a …
News Release
NIH-led study finds genetic markers that explain up to 12% of the differences between two people’s blood pressure.
… confirmed the association between variants in the ADRA1A gene and blood pressure. ADRA1A encodes a type of cell …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… study found that having more than two copies of the TPSAB1 gene was associated with symptoms related to the …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… MMA is caused by mutations in the methylmalonyl-CoA mutase gene ( MMUT ), which encodes for the MMUT protein. People … detect increase in carbon 13 propionate oxidation after gene, mRNA or genome editing therapies,” Venditti said. “This …
News Release
Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… and Arab populations. Genomic variants in the MEFV gene cause FMF. MEFV encodes a protein called pyrin. In … pyrin because of genomic variants (mutations) in the MEFV gene. Mutated pyrin does not need an infection or other …
News Release
Daniel Kastner was named Federal Employee of the Year as part of the 2018 Samuel J. Heyman Service to America Medals program.
… numerous fundamental advances, such as identifying the gene variant that causes in Familial Mediterranean fever and …