Search Results
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 … can be seen in many common conditions, such as vitamin B12 deficiency, stroke syndromes, pancreatic dysfunction, …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… Dr. Daniel Kastner in the Intramural Research Program of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) to work as a post-doctoral fellow on the positional cloning … recessively-inherited disorder is now termed DIRA, the deficiency of the IL-1 receptor antagonist. More recently, …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… The Clinical and Basic Investigations of Methylmalonic Acidemia study will evaluate patients with MMA and related disorders to learn more about the genetic causes of the various types … in evaluating patients with elevated homocysteine due to cblE and cblG deficiencies. Some patients who have not …
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 …
Talking Glossary
A pathogenic variant is a genomic variant that may increase a person’s risk of developing a condition, disorder or disease.
… is a genomic variant that may increase a person’s risk of developing a condition, disorder or disease. … A … can be inherited from a parent or can occur spontaneously due to factors such as environmental exposure and aging. … A …
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 …