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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 …
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 …
Fact Sheets
Cloning describes a number of different processes that can be used to produce genetically identical copies of a biological entity.
… 1979, researchers produced the first genetically identical mice by splitting mouse embryos in the test tube and then … the resulting embryos into the wombs of adult female mice. Shortly after that, researchers produced the first … cell division. In other mammals, such as cats, rabbits and mice, the two spindle proteins are spread throughout the egg. …
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 …
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 …
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 …
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
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… factor SOX10  result in neural crest stem cell defects in mice that accurately model enteric nervous system … gene therapy can increase the lifespan of NPC1 mutant mice, and also improve neuronal and liver abnormalities. … CP. Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1. Hum Mol Genet . …
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 …
Event
On November 1-5, 2023, 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
… of disease. PB3464 David Bernard Vitamin B12-deficient mice lacking the transcobalamin-vitamin B12 receptor, CD320, …