Search Results
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 …
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.
… Patrick Forny, M.D., Ph.D. 11:30 - 12:00 p.m. Role of Mitophagy in Methylmalonic Acidemia Alessandro Luciani, …  Session 2 Hilary Vernon, M.D., Ph.D. Associate Professor of Genetic Medicine, Johns Hopkins University 12:30 - 12:50 … 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. …
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 … with Stephen Goff, Ph.D., Columbia University, on studies of retroviral replication and on early studies using … immunodeficiencies, including those resulting from Itk-deficiency or activating mutations of PI3K p110delta, both of …
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 … PM, Sidransky E. Consequences of beta-glucocerebrosidase deficiency in epidermis: ultrastructure and permeability …
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 …
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, … in a research subject with ornithine transcarbamylase deficiency. Mol Genet Metab 105(2):263-5, 2012. PMCID: … A, Bryan NS, Nagamani SCS, Lee BH. Argininosuccinate lyase deficiency causes an endothelial-dependent 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 …
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 … for Advancing Translational Sciences (NCATS), both parts of NIH, reported in the June 11, 2014, issue of Science … 'empty the trash' that accumulated because of the genetic deficiency of the enzyme," said Ellen Sidransky, M.D., senior …
Staff
Dr. Gordon-Lipkin is a researcher and child neurologist with expertise in neurodevelopmental disabilities in the Metabolism, Infection and Immunity (MINI) Section.
… She completed her medical training from the University of Maryland in Baltimore; residency in pediatrics from the … cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A … BP, Levey E, Fatemi A. ST3GAL5-related disorders: A deficiency in ganglioside metabolism and a genetic cause of …
15 Ways Genomics Influences Our World
Genomics is empowering farmers to improve the food supply.
… breeding practices that have been in use for thousands of years? The ability to read genome sequences coupled with … genes or gene changes allows us to speed up the process of selecting desirable traits in plants and animals. Let's … Rice see it as a potential tool for fighting vitamin A deficiency and saving lives. In 2015, they were given the " …