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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
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 …
Careers and Training
Scientists and thousands of other professionals are using discoveries in genetics to revolutionize the world. This means careers in genetics and genomics are booming. And there are many other careers you don’t usually think of as science, like education, social work, and even law and the arts that are affected by this growth, creating even more career opportunities.
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 …
The Genomics Landscape
In the September 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details how social media provides NHGRI staff with a space to talk about their work, make genomics topics easy to understand, and show how genomics can positively affect people.
… Project. … Genomics Research NIH-funded study discovers gene involved in male infertility In a common genetic … MorPHiC program to explore the function of every human gene … NHGRI Short Course in Genomics features new microbiome …
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 …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… (those that are caused by variants in more than one gene), such as coronary heart disease, diabetes, and … of the All of Us Research Program NIH Director on human gene editing: 'We must never allow our technology to eclipse …
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 …
Staff
Britny Kish is the deputy director for the NHGRI's Office of Communications.
… events for the launch of the film “Ken Burns Presents the Gene: An Intimate Story.” Britny also served on the …
National Advisory Council for Human Genome Research
The Director's Report Related documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in February 2020.
… Director’s New Twitter Account @NHGRI_Director 51 The Gene: An Intimate History WETA Documentary WETA-NHGRI Partnership The Gene: An Intimate History Preview National Education and …