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Staff
Dr. Francis Collins was a senior investigator in Center for Precision Health Research.
… the disease seen in HGPS patients. Specifically, these mice exhibit progressive loss of vascular smooth muscle cells … prevented the onset of cardiovascular disease in young mice but also reduced the progression of the cardiovascular defects upon treatment of older mice. This research complemented other data in support of a …
The Genomics Landscape
In the January 2019 edition of The Genomics Landscape, NHGRI Director Dr. Eric Green honors NIAMS Director, Stephen Katz, M.D., Ph.D.
… Genomics Research Elevated Hormone Flags Liver Problems in Mice with Methylmalonic Acidemia Zooming in on Meiosis …
News Release
ENCODE program directors in the Division of Genome Sciences turned to Reddit to answer questions from the Reddit community.
… in the mouse, we got what looked like viable 'normal' mice. We were expecting the mice to die or have some sort of selective phenotype we could …
Staff
Dr. Tyra Wolfsberg is the associate director of the Bioinformatics and Scientific Programming Core at the National Human Genome Research Institute.
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Event
On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… Platform talk: Rescue of Proteus syndrome lethality in mice with prenatal miransertib treatment Speaker, Shaima Raji …
News Release
NIH researchers have developed and released an innovative software tool, called Verso, to assemble truly complete (i.e., gapless) genome sequences from a variety of species. The software makes the process of assembling complete genome sequences more affordable and accessible.
… sequences of species commonly used in research, such as mice, fruit flies and zebrafish, improving their usefulness …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… they developed a mouse model mimicking HIBM. These mice die of unexpected glomerular disease due to … partially rescues the kidney defect, allowing the mutant mice to survive. Dr. Huizing is currently evaluating the use …
File
… LoFvariants–Knockout genes that generate a phenotype in mice–Gene families targetable by drugs•Criteria for …
Staff
Dr. Manfred Boehm is a an adjunct investigator for the Office of the Clinical Director at NHGRI.
… cells modulates inflammation following arterial injury in mice. J. Clin. Invest, 120(1):303-14. 2010. [ PubMed ] St …
The Genomics Landscape
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
… Disease Novel Drug Therapy Partially Restores Hearing in Mice Notable Accomplishments in Genomic Medicine Videos …