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News Release
NHGRI has selected Charles Venditti, M.D., Ph.D., as chief of its Metabolic Medicine Branch within the Institute’s Intramural Research Program. In this role, he will provide leadership and guidance on research into genetic diseases that disrupt metabolism.
… selected Charles P. Venditti, M.D., Ph.D., as chief of its Metabolic Medicine Branch within the Institute’s Intramural … in the basic, translational and clinical aspects of metabolic diseases,” said Charles Rotimi, Ph.D., NHGRI … tenure in 2016, he became a senior investigator in the Metabolic Medicine Branch. Currently, Dr. Venditti is also an …
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.
… Carlos Ferreira, M.D. , a staff clinician in the Metabolic Medicine Branch at the National Human Genome … disorders, we hope to better understand molecules and pathways that influence skeletal growth and metabolism in … bones … Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare …
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… analyses of the disease we focus on belong to inflammatory pathways, like Rohith's, that have been targeted by big … analyses turned up genes that belong to inflammatory pathways. … multi-focal osteomyelitis, CRMO, NIH Clinical … analyses turned up genes that belong to inflammatory pathways. … News Release …
Profile
Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
… that focused on understanding genome function and gene pathways in development and disease. As head of the Genomics, … after nearly 30 years of discovering gene functions and pathways … Dr. Pavan looks back on his career at NHGRI, …
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.
… defects in the propionyl-CoA and vitamin B12 (cobalamin) metabolic pathways. This meeting will bring together researchers, … pathophysiology, genetics and treatments for rare inborn metabolic errors. We will also review the opportunities and …
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the NHGRI Division of … of these diseases and to catalog related genes, biological pathways and mechanisms related to each disease. Eventually, … as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… treatment Trial in Patients with Alkaptonuria Biochemical/Metabolic and Therapeutics March 14, 2024, 4:15 – 5:45 p.m … for Cerebral Creatine Deficiency Syndromes Biochemical/Metabolic and Therapeutics … Poster Presentations No. Title … Where Epigenetics, Cancer and Hypoxia meet P134 Neuronal Pathways by Differential Tractography Correlate with Clinical …
News Release
Researchers find weaker immune response to viral infections in children with mitochondrial disorders
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
… genes are turned on and off. mir4485 controls cellular pathways that help cells survive. For children with …
Intramural Training Office
Three-minute talk (TmT) presentation videos from previous years dating back to 2015.
… VEXAS Daniela Ospina Cardona Postbaccalaureate Fellow, Metabolic, Cardiovascular, and Inflammatory Disease Genomics … a predictive network model Cihan Oguz Research Fellow, Metabolic, Cardiovascular and Inflammatory Disease Genomics … in African Americans Cihan Oguz Research Fellow, Metabolic, Cardiovascular and Inflammatory Disease Genomics …
News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… a senior investigator in NHGRI's Medical Genomics and Metabolic Genetics Branch, NIH director and a corresponding …