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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 …
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 …
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, …
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in February 2023.
… Website Training Program Annual Meeting Report 43 Knockout Mouse Phenotyping Project (KOMP2) KOMP2 Program …