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News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… Raymond MacDougall … Sooner than almost anyone expected, a new, genome-based technology for demystifying undiagnosed … M.D., of the National Human Genome Research Institute and Robert C. Green, M.D., M.P.H., of Brigham and Women's Hospital and Harvard Medical School, Boston, note …
News
NHGRI launched a new round of strategic planning to establish a 2020 vision for genomics research that will accelerate scientific and medical breakthroughs.
… Human Genome Research Institute (NHGRI) today launched a new round of strategic planning that will establish a 2020 … for genomics research aimed at accelerating scientific and medical breakthroughs. … Accelerating Breakthroughs In … the strategic plan, the institute will engage experts and diverse public communities to identify paradigm-shifting …
The Genomics Landscape
In the September 2018 edition of The Genomics landscape, NHGRI Director Eric Green highlights five new educational videos that use poetry and dance.
… Eric Green, M.D., Ph.D. … As summer winds to an end and fall beckons, NHGRI will 'shift gears' a bit in its … recently, this involved the production and release of five new educational videos. The origins of these new videos trace … Next Generation Researchers Initiative (NGRI) Policy on Early Established Investigators (EEIs) Request for …
News Release
The National Human Genome Research Institute (NHGRI) has announced plans to establish a new precision health research program within its Division of Intramural Research.
… capitalize on growing availability of large-scale genomic and health record data worldwide to advance the science of … Institute (NHGRI) has announced plans to establish a new precision health research program within its Division of … Research.  The goal of the program is to develop and evaluate next-generation healthcare that uses …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… … When the National Human Genome Research Institute and the National Heart, Lung, and Blood Institute launched … Thanks to an international partnership with more than 500 investigators in 36 countries, CMG investigators have made … In studying nearly 9,000 families, they have uncovered 470 new, previously unknown conditions and learned important …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… Collaborative effort aims to help patients and their support networks navigate emerging developments in gene therapies for sickle cell disease. … New educational materials to help the sickle cell disease … by Vence Bonham Jr., J.D., NHGRI acting deputy director and associate investigator in the Social and Behavioral …
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 … to Artificial Intelligence (Bridge2AI) program to set the stage for the widespread adoption of artificial intelligence. …
Media Availability
Researchers have used a new combination of microfluidics and genomics to fish out a specific gut bacterium from the sea of microbes in the human microbiome.
… the first time have used a combination of microfluidics and genomics to fish out a specific gut bacterium from the … of trillions of microbes in the human microbiome. … The new method has broad applications for isolating and studying … because of the growth conditions that many require. HMP investigators created a "Most Wanted" list for those …
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 … clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles (unusual cavity-like structures) in myeloid …
News Release
Scientists set their sights on chromatin - the DNA-protein complex that packages DNA into chromosomes in the cell - to better understand how the genome works.
… yield important insights into the genome's working parts and how those parts are managed. … Chromatin influences gene … - literally turned on or off. The study also reveals new details about the variety of cells in an organism, … cell type. "We found that some of the stem cells showed early signs of being ready to develop into different types of …