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Staff
Dr. Francis Collins is 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 …
Profile
Jim Mullikin pioneered DNA sequencing technologies during the Human Genome Project and other major advances in genomics.
… also the genomes of important research organisms, such as mice, C. elegans and zebrafish. Throughout the Human Genome …
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
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 . …
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. Shurjo Sen is a program director in NHGRI's Division of Genome Sciences who manages a portfolio of grants focused upon genomic data sciences, and is particularly interested in transitioning genomics from a centralized data repository model to cloud-based collaborative science.
… Iliev ID, Belkaid Y, Trinchieri G, Rehermann B. Laboratory mice born to wild mice have natural microbiota and model human immune responses …
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 …
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, …
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 …