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Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… and disorders. We are also establishing cell and animal models to study these new genes that are associated with …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
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 …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
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  …
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 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.