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Staff
Dr. Elisabeth F. Heuston is a molecular biology and bioinformatics Staff Scientist with the Center for Research on Genomics and Global Health (CRGGH).
… Heuston used in vitro functional assays and in vivo rodent models to identify common genomic mechanisms across multiple … Mellitus (AADM) Study, and (2) generating in vivo animal models to connect genes identified in genome-wide association …
News Release
Supporting early career investigators at the cutting edge of genomics.
… challenges relating to developing and breeding mouse models. Mouse models are essential for biomedical research, with about 70% … relating to mouse studies. Given the frequent use of mouse models around the globe, addressing these challenges may have …
News Release
Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.
… working group in 2011. GRIPS placed an emphasis on models that included a smaller set of genomic variants and gene scores. However, genetic risk prediction models have evolved rapidly since then, and are based on a …
News Release
NIH is launching a program, Molecular Phenotypes of Null Alleles in Cells (MorPhiC), to better understand the function of every human gene and generate a catalog of the molecular and cellular consequences of inactivating each gene.
… funded by the MorPhiC program will use cell culture models such as organoids, which are miniature, three-dimensional models composed of multiple cell types that mimic the …
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
Final outcomes from the most comprehensive analysis to-date of humans and their microbiomes definitively link microbes and microbial activities with health problems.
Funding Opportunities
Funding Opportunities for Investigator-Initiated Research in Computational Genomics and Data Science
The Computational Genomics and Data Science Program Announcements (PARs) invite applications for investigator-initiated research efforts fostering innovation in computational genomics, data science, statistics, bioinformatics, and data visualization and exploration.
… COLD SPRING HARBOR LABORATORY Interpretable Computational Models of Functional Genomics Data HG012131 MANCUSO, NICHOLAS …
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.
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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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, …