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Research Funding
The Knockout Mouse Phenotyping Project (KOMP2) collaborates with the International Mouse Phenotyping Consortium (IMPC) to knockout and characterize all protein-coding genes in the mouse genome.
… The IMPC can then generate and phenotype knockout mouse models for these orthologues. The IMPC currently has data for … (NIH Common Fund): The UDN uses KOMP2/IMPC data and mouse models to assist diagnoses. The phenotype data can provide … with rare and undiagnosed disease cases, and mouse models provide resources for functional studies for …
News Release
Jeffery Schloss, Ph.D., Division of Genome Sciences director, was honored with the HHS Career Achievement Award for his work in genome sequencing technology.
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… J, Aflaki E, Sidransky E. Induced pluripotent stem cell models of lysosomal storage disorders. Dis Model Mech. … and therapeutics for Gaucher disease. Disease Models & Mechanisms. 9:769-78.2016 PMID:27482815 Aflaki E, …
Funded Research
The Advancing Genomic Medicine Research (AGMR) program stimulates innovation and advance understanding of when, where and how best to implement the use of genomic information and technologies in clinical care.
Staff
Lisa Garrett is an associate investigator and director of the NHGRI Transgenic Mouse Core.
… NCI, Frederick, Maryland. generating transgenic mice for models of cancer. At this time, she started her graduate … study the mechanisms in human genetic diseases using mouse models. … Watkins-Chow DE, Varshney GK, Garrett LJ, Chen Z, …
News Release
Researchers analyzing human, fly, and worm genomes have found these species have key genomic processes in common, reflecting their shared ancestry.
Outreach
A list of high quality educational activities to engage students on DNA Day.
… students can learn about sources of genetic variation and models for learning more about it. Evolution: DNA and the … Resources also discuss artificial vs. natural selection, models of evolution through corn, the eye and the stickleback …
Staff
Dr. Paul Liu is a senior investigator in NHGRI's Translational and Functional Genomics Branch. ​
… abnormality in human acute myeloid leukemia. Using animal models, Dr. Liu has illustrated the importance of CBFB-MYH11 … studies of CBFβ-SMMHC with novel transgenic mouse models. The zebrafish is a useful model for studying …
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.
… is the lack of generalizability of frameworks, models, and data standards; and (3) better education and …
News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.