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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
… Nicholas Singh-Miller Building a phenotype for ALPK3 loss-of-function mutation heterozygotes: Leveraging PheWAS to enhance reverse phenotyping studies PB4459 Natalie … PB4499 Sarah Silverstein RNAseq driven diagnosis of NBAS deficiency expands the phenotypic spectrum of disease. PB3464 …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… focuses on translational research determining the effect of genetic variation on gene function and identifying primary … targets for potential therapeutic development. Prior to arriving at the National Institutes of Health, Dr. Erdos … HIV at the George Washington University. Dr. Erdos moved to the National Heart, Lung and Blood Institute in 1990 where …
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 goal of the branch is to demonstrate that research findings and opportunities … to develop clinical trials for gene therapy of immune deficiency and preclinical development of gene therapy for …
News Release
NIH researchers have created a data resource show how differences in an individual's genome can affect gene activity and contribute to disease.
… Researchers funded by the National Institutes of Health Genotype-Tissue Expression (GTEx) project have created a new and much-anticipated data resource to help establish how differences in an individual's genomic make-up can affect gene activity and contribute to disease. The new resource will enable scientists to …
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 … on the epidemiology and genetic epidemiology of vitamin D deficiency in Africans, in which he described novel genetic …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging. … Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging. The … from "geras," the Greek word for old age, is estimated to affect one in 4 million newborns worldwide. The most …
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 … where he has initiated a translational research program to study the natural history and clinical phenotype(s) of the … have focused on the development of experimental systems to study the genetics, genomics and biochemistry of organic …
Policy Issues
El uso de seres humanos en las investigaciones biomédicas, clÃnicas y socioconductuales puede ofrecer entendimiento y descubrimientos que no pudieran obtenerse de ninguna otra manera.
… en Investigaciones ( Federal Policy for the Protection of Human Research Subjects ) o 'Regla Común'. Esta regulación … Nacional de IndÃgenas Norteamericanos ( National Congress of American Indians Policy Research Center ), en colaboración … biomuestras (" Workshop on the Release of Research Results to Participants in Biospecimen Studies "). El documento …
Graduate Medical Education
An opportunity for a 4-to-8-week elective in the National Human Genome Research Institute (NHGRI) at the NIH Clinical Center in Bethesda, MD.
… Electives Program (REP) is an opportunity for a 4-to-8-week elective in the National Human Genome Research … at the NIH Clinical Center in Bethesda, MD. It is open to residents and clinical fellows enrolled in … Participants have the opportunity to have direct experience in the care of patients enrolled in …
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.
… Click on the hyperlinked presentation titles to view their respective videos. All times are in ET. … Patrick Forny, M.D., Ph.D. 11:30 - 12:00 p.m. Role of Mitophagy in Methylmalonic Acidemia Alessandro Luciani, … 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. …