Search Results
News Release
Researchers from the NHGRI-funded Impact of Genomic Variation on Function Consortium are exploring how genomic variation affects genome function.
… of variant impacts, including standards, data, tools and models that will be shared with the broader research … will also use the findings to develop predictive models of unstudied variants and how these variants behave in … IGVF researchers using different cell types and phenotype models, aim to inform optimal strategies that can be applied …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… between genomes.  Uses family-based studies and animal models to identify susceptibility loci, particularly for … organisms and the use of mouse and other small animal models for cancer-related genetic and functional studies.  …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
News Release
A new method of targeting specific DNA sequences in zebrafish could accelerate the discovery of gene function and the identification of disease genes in humans.
… have not been confirmed by knocking them out in animal models and seeing what happens. "This is a way to do that on …
Research at NHGRI
The Metabolic Medicine Branch houses clinical and laboratory research programs that focus on the development of new therapies for patients with genetic disorders.
… including stem cell, organoid, zebrafish and mouse models to mimic aspects of the conditions in the laboratory. … caused by mitochondrial dysfunction and create mouse models to test novel small molecules to treat genetic …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… analyses, as well as studies utilizing cells, animal models and human brain samples. With funding from the NIH … dopaminergic neurons, astrocytes and macrophages. Mouse models of Gaucher disease have been crossed with Parkinson disease models, demonstrating that deficient glucocerebrosidase …
News Release
NIH has awarded grants of more than $28 million aimed at deciphering the language of how and when genes are turned on and off.
Research Funding
A list of current and previous Centers of Excellence in Genomic Science (CEGS) grant awards.
… personalized medicine and aggressively humanized mouse models. Specifically, we will (i) enhance our Design – Build … in the production of extensively humanized animal models called Genomically Rewritten and Tailored Genetically Engineered Mouse Models (GREAT-GEMMs), an element of our program worthy of …
Intramural Training Office
Three-minute talk (TmT) presentation videos from previous years dating back to 2015.
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… Session #72: Inborn Errors of Metabolism: Novel Disorders, Models, and Observations; Hilton Baltimore Hotel, Holiday … variable selection method for identifying complex genetic models associated with human traits. (Statistical Genetics … GBA1 mutations and synucleinopathies with in vivo mouse models. (Psychiatric Genetics, Neurogenetics and …