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Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… Poster Presentations  Presenter Title Board # November 2, 2023, 3:00 - 5:00 p.m. Nicholas Singh-Miller Building a phenotype for ALPK3 loss-of-function mutation heterozygotes: Leveraging PheWAS to … PB4499 Sarah Silverstein RNAseq driven diagnosis of NBAS deficiency expands the phenotypic spectrum of disease. PB3464 …
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. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… Venditti received a S.B. from the Massachusetts Institute of Technology in 1988 and was an M.D., Ph.D. scholarship … genetics fellowship (1999-2003) at the Children's Hospital of Philadelphia/University of Pennsylvania School of Medicine. After his fellowship, he …
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, 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
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 Health (NIH), clinical researchers at the National Human … 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, Dr. Shchelochkov was a tenure-track assistant … professor within the Pediatrics Department and Division of Genetics at the University of Iowa Hospitals and Clinics. …
Policy Issues
Participar en una investigación genómica es una oportunidad para apoyar la exploración cientÃfica del genoma.
… los Institutos Nacionales de la Salud (National Institutes of Health, NIH) en su misión de entender, prevenir, detectar …
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 … recombination to introduce mutations into the germline of mice — work that helped open a new era in mouse genetics. …
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 clinical geneticist in the Medical Genetics Branch of the National Human Genome Research Institute at the National Institutes of Health in Bethesda, Maryland. Dr. Sidransky graduated …
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.
… 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 Translational Medicine that they have succeeded in … 'empty the trash' that accumulated because of the genetic deficiency of the enzyme," said Ellen Sidransky, M.D., senior …