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Event
On August 15-16, the National Human Genome Research Institute (NHGRI), the National Science Foundation (NSF) and the United States Department of Agriculture (USDA) sponsored a meeting Perspectives in Comparative Genomics and Evolution at the Bethesda North Marriott Hotel & Conference Center in Rockville, Maryland.
Profile
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 …
File
… Choosing the best models, lessons from diverse complex diseases: Breast Cancer …
The Genomics Landscape
In the January 13, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., announces the appointment of Valentina Di Francesco as founding director of the NHGRI Office of Genomic Data Science.
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 Funding
Frequently Asked Questions for IGVF RFAs: RFA-HG-20-043, RFA-HG-20-044, RFA-HG-20-045, RFA-HG-20-046, RFA-HG-20-047
… and the utility of these in generating regulatory network models. What is the difference in scope between the Networks …
News Release
A new study offers insights into why some people's hair goes gray in response to a serious illness or chronic stress.
… NHGRI; Melissa Harris, UAB Researchers used two mouse models in the study. One mouse model carried a mutation that … in these mice caused hair graying. Combining the two mouse models by mating the mice produced greater amounts of gray … they discovered. The researchers then subjected both mouse models to a substance that mimicked a viral infection. The …
News Release
The zebrafish is a powerhouse tool that helps researchers better understand the genes that are implicated in disease.
… "gain-of-function" mutations for core users. "The knock-in models are used for making the exact same mutations as seen …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.