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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.
… Patrick Forny, M.D., Ph.D. 11:30 - 12:00 p.m. Role of Mitophagy in Methylmalonic Acidemia Alessandro Luciani, Ph.D. 12:00 - 12:30 p.m. Lunch Break  Session 2 Hilary Vernon, M.D., Ph.D. Associate Professor of Genetic … M.D. 10:30 - 10:45 a.m. High-Dose B12 Therapy for cblC Deficiency Irini Manoli, M.D., Ph.D. 10:45 - 11:10 a.m. …
Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… The Genetics and Molecular Biology Branch uses state-of-the-art genetic and genomic technologies to study the genomes of humans and other organisms and disease mechanisms. … The … to develop clinical trials for gene therapy of immune deficiency and preclinical development of gene therapy for …
Staff
Reagan Moseti Mogire is a postdoctoral research fellow with a background in medical biochemistry, molecular biology, and genetic epidemiology.
… and a BSc in Medical Biochemistry from the University of Nairobi. In his master's project, he used chemogenomic … approaches to identify anti-malarial activities of approved drugs. His Ph.D. was focused on the epidemiology and genetic epidemiology of vitamin D deficiency in Africans, in which he described novel genetic …
Staff
Dr. Oleg Shchelochkov is Director of NHGRI Clinical and Laboratory Residencies and Fellowships, and an Associate Investigator in the Office of the Clinical Director.
… After his early pediatrics training at the University of Iowa and genetics training at Baylor College of Medicine, … affects human and mouse brain development. Nat Genet 41(2):168-77, 2009. PMCID: 4396744 *Joint first authors … in a research subject with ornithine transcarbamylase deficiency. Mol Genet Metab 105(2):263-5, 2012. PMCID: …
Staff
Dr. Pamela Schwartzberg is a adjunct investigator in NHGRI's Genetic Disease Research Branch.
… and her M.D. and Ph.D. degrees from the Columbia College of Physicians and Surgeons, Columbia University. During her … immunodeficiencies, including those resulting from Itk-deficiency or activating mutations of PI3K p110delta, both of … of post-vaccination responses . Cell . 2014 Apr 10;157(2):499-513. *co-corresponding authors Gomez-Rodriguez J, …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… Dr. Sidransky, chief of the Molecular Neurogenetics Section, is a pediatrician and … prototype disorder studied, is the recessively inherited deficiency of the lysosomal enzyme glucocerebrosidase … of a perinatal lethal form of GD, skin changes in type 2 GD, and the role of GCase in epidermal barrier function. …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… Equipped with the power of genomic information and state-of-the art resources available at the National Institutes of … for Proteus syndrome, Arterial Calcification due to Deficiency of CD-73 (ACDC), and for a new form of …
Policy Issues
Synthetic biology is a field of science that involves redesigning organisms for useful purposes by engineering them to have new abilities.
… Synthetic biology is a field of science that involves redesigning organisms for useful … usually associated with carrots, that prevents vitamin A deficiency . Vitamin A deficiency causes blindness in 250,000 - 500,000 children …
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.
… 14, 2024, 4:15 – 5:45 p.m MTCC-718 Phenome-wide Studies of Hereditary Transthyretin Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics … Interpretation Recommendations for Cerebral Creatine Deficiency Syndromes Biochemical/Metabolic and Therapeutics … …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… Raymond MacDougall … A team from the National Institutes of Health has surmounted a major obstacle to testing … bone pain, fractures and arthritis. The less common Types 2 and 3 affect the central nervous system and can cause … 'empty the trash' that accumulated because of the genetic deficiency of the enzyme," said Ellen Sidransky, M.D., senior …