Search Results
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… Oleg Shchelochkov, M.D. 2:50 - 3:10 p.m. Hepatocyte-Based Models and Small Molecule Therapies for MMA/PA Kimberly A. … Guéant, M.D., Ph.D, DSc 11:10 - 11:35 a.m. Mouse Models of cblC, cblX Ross A. Poché, Ph.D. 11:35 - 12:00 p.m. … Receptor: Insights from Patients, Populations and Animal Models Lawrence Brody, Ph.D. 12:00 - 12:30 p.m. Lunch Break  …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… through which researchers will develop a pipeline of models for disease-causing mutations in a broad range of …
The Genomics Landscape
In the March 3, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new fact sheets produced by the institute's Communications and Public Liaison Branch.
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
Research at NHGRI
The Translational and Functional Genomics Branch explores the genetic, epigenetic and metagenomic basis of human disorders.
… of humans, microorganisms that live on humans and animal models of genetic disease. TFGB investigators catalyze … approaches and technologies in cell lines and animal models, TFGB investigators are making fundamental discoveries …
News Release
The newly launched Impact of Genomic Variation on Function (IGVF) consortium to include 30 U.S. sites.
… By integrating experimental methods with advanced computer models, the IGVF consortium will identify which variants in …
News Release
Using a virtual reality buffet, researchers studied the hundreds of small decisions mothers make while selecting food for their children.
Health
Knowledge of your family health history can help you and your healthcare providers identify patterns of inheritance and risk factors.
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.  …