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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
NHGRI researchers have shown that areas of the genome related to brain development harbor variants that may account for behavioral differences among different dog lineages.
News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… Progeria is caused by a mutation in the nuclear lamin A gene in which one DNA base C is changed to a T. Researchers … is caused by a mutation in the nuclear lamin A (LMNA ) gene in which one DNA base C is changed to a T. This change … patients. The team used the base editor on the LMNA gene within the patients’ cells in a laboratory setting. The …
News Release
The U.S. Food and Drug Administration has approved the first treatment for progeria, a rare and fatal pediatric disease, characterized by dramatic, rapid aging beginning in childhood.
… to identify and understand the function of the mutant gene and the protein it encodes (called progerin) with the … including its involvement in the discovery of the gene responsible for the disease, the development of a mouse … is caused by a genetic mutation in the LMNA (“lamin A”) gene, which helps maintain the normal structure and function …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… they were told that they also had a variant of a gene called RUNX1 that was associated with a platelet … for more than 20 years that genomic variants in the RUNX1 gene cause the disorder, it is still poorly understood partly … lack of detailed research about the disorder. The RUNX1 gene codes for a transcription factor, which turns genes on …
News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
… owners. In particular, the study found that the LCORL gene is associated with dog body weight and height. LCORL … (ex. Golden Retriever). Their analysis revealed that the gene ESR1 is associated with long legs in dogs. In humans … that the estrogen hormone binds to. Mutations in the gene are known to affect bone mineral density and increase …
News Release
By considering mixed genetic lineages, NHGRI researchers demonstrated that previously inferred links between a genomic variant that helps digest lactose and traits such as a person’s height and cholesterol level may not be valid.
… As an example, the researchers investigated the lactase gene, which encodes a protein that helps digest lactose and … panel, they analyzed how a genomic variant of the lactase gene is related to traits such as height, body mass index and … Health and senior author of the study. While the lactase gene is one example of a gene that may be incorrectly linked …
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… role in healing wounds. Genomic variation in the STAT4 gene causes disorganized fibroblasts that fail to heal wounds … and found that all four have genomic variants in the STAT4 gene. The STAT4 gene encodes a type of protein that helps turn genes on and …
News Release
NIH researchers researchers and collaborators have gained some key insights into the biological inner-workings of regrowing a body, the evolution of aging and a unique method to dispose of aging cells, by studying the genomes of a hermit crab (Hydractinia symbiolongicarpus).
… the animal was cut. When the researchers deleted this gene, the animals’ ability to develop senescent cells was …
News Release
NHGRI has selected Sara Chandros Hull, Ph.D., and Shawn Burgess, Ph.D., as deputy scientific directors of NHGRI’s Intramural Research Program.
… in the zebrafish genome by developing and using efficient gene-knockout technologies to understand the genomic basis of …
News Release
A study published NIH researchers revealed that about half of individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare provider gave them more detailed information.