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News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… the National Institutes of Health (NIH) have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in … cells. The scientists reported their findings in the New England Journal of Medicine . Nearly 125 million people …
News Release
Researchers from NHGRI, Oxford University and other National Institutes of Health centers have developed and tested a new method to predict hospital-acquired infections involving five other important pathogens.
… monitoring tool can detect hospital-acquired infections early and potentially help reduce contagion. … Human Genome Research Institute (NHGRI), Oxford University and other National Institutes of Health centers developed and tested a new method to predict hospital-acquired infections involving …
News Release
NHGRI has selected Adam Phillippy, Ph.D. as the founding director of the new Center for Genomics and Data Science Research within the Institute’s Intramural Research Program.
… Phillippy to provide scientific leadership and shape direction of computational genomics in institute’s … Adam Phillippy, Ph.D. as the founding director of the new Center for Genomics and Data Science Research within the Institute’s Intramural … NHGRI selects Adam Phillippy as first director of new Center for Genomics and Data Science Research …
News Release
Researchers have now identified and catalogued more species - nearly 200 new bacteria and thousands of viruses - that reside on the human skin than has ever been possible, largely due to advances in bioinformatics and laboratory techniques.
… Study identifies nearly 200 new bacteria and thousands of viruses residing on skin, far more than … Researchers have now identified and catalogued more species that reside on the human skin … the most abundant on human skin. The results appear in a new catalog, the Skin Microbial Genome Collection (SMGC), …
Research Funding
In May 2020, the NIH Common Fund launched the Bridge to Artificial Intelligence (Bridge2AI) program to set the stage for the widespread adoption of artificial intelligence (AI).
… of existing analytical methods. Bridge2AI will generate new “flagship” data sets and best practices for machine learning, a type of AI that … allows machines (like computers) to automatically learn and improve from experience without being explicitly … Bridge2AI program goals include: Generating new flagship biomedical and behavioral data sets that are …
Funding Opportunities
The NHGRI Genomic Innovator Awards support highly innovative work by early career genomics investigators who are part of consortia or other team-science efforts. All awardees work on critical, emerging topics in genomics. These awards recognize creative endeavors with great potential to accelerate future genomics research.
… Genomic Innovator Awards support highly innovative work by early career genomics investigators who are part of consortia or other team-science … disorders, single-cell genomics, precision medicine and how the field handles massive amounts of genomic data. … Innovator Awards August 27, 2019 The Genomics Landscape : New NHGRI Grant Program to Support Innovative Genomic …
News Release
NHGRI published its “Strategic vision for improving human health at The Forefront of Genomics” in the journal Nature. This vision describes the most compelling research priorities and opportunities in human genomics for the coming decade, signaling a new era in genomics for the Institute and the field.
… vision describes the most compelling research priorities and opportunities in human genomics for the coming decade, signaling a new era in genomics for the Institute and the field. “We crafted our new strategic vision at an important inflection point in … Some of the complex genomic issues discussed in the new vision relate to genetic discrimination, genome editing, …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… density lipoprotein (LDL) cholesterol beginning at birth and heart attacks at an early age. … (low density lipoprotein) cholesterol beginning at birth, and heart attacks at an early age. Cholesterol is a fat-like substance that is found … The major symptoms and signs of familial hypercholesterolemia are: High levels …
The Genomics Landscape
In the June 2, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new and improved Talking Glossary of Genomic and Genetic Terms - one of the premier educational resources offered by NHGRI, and it aims to help users better understand the basics of genomics and genetics.
… As the heat rises and the summer arrives, you might be looking for some indoor … NHGRI workshop entitled “Future Directions in Genomics and Health Equity.” The goal of the workshop was to identify research gaps and opportunities that will help decrease health disparities …
News Release
NIH is launching a program, Molecular Phenotypes of Null Alleles in Cells (MorPhiC), to better understand the function of every human gene and generate a catalog of the molecular and cellular consequences of inactivating each gene.
… to better understand the function of every human gene and generate a catalog of the molecular and cellular … Division of Genome Sciences. The MorPhiC program offers a new approach to understanding gene function when compared to … of the Knockout Mouse Program. Another effort is applying new technologies, genome-sequencing strategies and analytical …