Search Results
Research Funding
NHGRI's programs and projects support research in one of six domains to advance the field of genomics and improve human health.
Research at NHGRI
The NHGRI Division of Intramural Research aims to advance the frontiers of genetics and genomics.
… mission. Finally, studies of development biology, animal models, and basic molecular mechanisms are critical for …
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.
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, …