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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.
… He subsequently completed his internship and residency in pediatrics at Massachusetts General Hospital / Harvard …
News Release
NHGRI has appointed Chris Gunter, Ph.D., as a senior advisor for genomics engagement. In this role, Dr. Gunter will advise the NHGRI director and the institute on issues and challenges associated with engaging the public about genomics and genomic medicine.
… and an associate professor in the Departments of Pediatrics and Human Genetics at Emory University School of …
Health
The Family Health History Group connects stakeholders, researchers, and thought leaders to share learning, understand barriers in depth, and discuss issues and potential solutions related to the collection of family health history information.
… of Pathology & Laboratory Medicine (Genomic Medicine) and Pediatrics (Genetics) University of Vermont Larner College of …
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… State University. After graduation in 1996, he completed a pediatrics residency at Massachusetts General … Biology Branch (2008-current). He is board-certified in pediatrics, clinical genetics and biochemical genetics and is … Phenotype of Isolated Methylmalonic Acidemia (MMA). Pediatrics , 29(6):e1541-51. 2012. [ PubMed ] Kruszka PS, …
Staff
Dr. Paul Meltzer is an adjunct investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
Staff
Dr. Toro is a senior clinician in NHGRI's Office of the Clinical Director and co-director of the NIH Undiagnosed Diseases Program.
… to rare and undiagnosed diseases. Nelson textbook of pediatrics . R. Kliegman. Philadelphia, PA, Elsevier: 2 …
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.
… 5 Kimberly A. Chapman, M.D., Ph.D. Associate Professor of Pediatrics George Washington University Medical School and … Program and Fetal Genetics, Assistant Professor of Pediatrics, CNMC 3:00 - 3:20 p.m. Enzyme Therapy for …
eMERGE
Important information about RFAs, upcoming dates, frequently asked questions and helpful links.
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… to Rare and Undiagnosed Diseases. In: Nelson Textbook of Pediatrics: RM Kliegman, BF Stanton, J St. Geme N Schor, eds. …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.