Search Results
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 … 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 … on the epidemiology and genetic epidemiology of vitamin D deficiency in Africans, in which he described novel genetic …
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 … have the opportunity to have direct experience in the care of patients enrolled in investigational protocols in the … and Adolescent Gynecology Pediatric Oncology Pulmonary Arterial Hypertension Service Rheumatology … Chris Ours, M.D. …
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. … … from "geras," the Greek word for old age, is estimated to affect one in 4 million newborns worldwide. The most … skin, a pinched nose, and a small face and jaw relative to head size. They also often suffer from symptoms typically …
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. …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… Applications UDN does not accept all applicants due to the complex nature of the body and the diseases being investigated. …
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 … biomuestras (" Workshop on the Release of Research Results to Participants in Biospecimen Studies "). El documento … Secondary Findings in the Clinical, Research, and Direct-to-Consumer Contexts "). Este informe recomienda que todos …
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 … in both pediatrics and medical genetics. She was elected to the association of American Physicians and the Society for … prototype disorder studied, is the recessively inherited deficiency of the lysosomal enzyme glucocerebrosidase …
Educational Resources
A centimorgan (abbreviated cM) is a unit used to measure genetic linkage.
… Centimorgan (cM) … A centimorgan is a unit used to measure genetic linkage. … Linkage Analysis, Genetics, … Fruit Flies … A centimorgan (abbreviated cM) is a unit of measure for the frequency of genetic recombination. One … on a chromosome will become separated from one another due to a recombination event during meiosis (which occurs …
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 purposes by engineering them to have new abilities. Synthetic biology researchers and … usually associated with carrots, that prevents vitamin A deficiency . Vitamin A deficiency causes blindness in 250,000 …