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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 …
Intramural Training Office
In NIH's annual Three-Minute Talks (TmT) competition, postbaccalaureate researchers, graduate students, and postdoctoral fellows from each institute’s intramural research program have to describe their research clearly and engagingly in just three minutes using one PowerPoint slide. The competition challenges trainees to develop their communication skills as they explain the background, key findings, and significance of their work.
… Lily Barna Postbaccalaureate Fellow, Gunter Lab … A tale of three transporters: Exploring vitamin B12 deficiency using zebrafish Tara Desporte Postbaccalaureate Fellow, Brody Lab … From Diapers to Dermis: Understanding the Development of Skin Microbiomes …
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. … … 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 …
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. …
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. …
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 …
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 …