Search Results
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
… Nicholas Singh-Miller Building a phenotype for ALPK3 loss-of-function mutation heterozygotes: Leveraging PheWAS to … phenotyping studies PB4459 Natalie Deuitch Evaluation of hereditary predispositions to hematologic malignancy in … 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. Shawn Burgess is the co-deputy director of NHGRI's Intramural Research Program.
… Ph.D. in genetics from the Johns Hopkins University School of Medicine, where he studied the genetics of mitochondrial fusion and fission in yeast. He trained with Nancy Hopkins, Ph.D., at the Massachusetts Institute of Technology, where he was part of a large effort to develop …
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, …  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. …
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 …