Search Results
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 …
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 …
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 …
Educational Resources
Congenital conditions are those present from birth.
… Congenital refers to a condition or trait that exists at birth. Congenital … occurring during pregnancy or at birth, or they may be due to a combination of these factors. …
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. …
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. 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 … in both pediatrics and medical genetics. She was elected to the association of American Physicians and the Society for …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… A team from the National Institutes of Health has surmounted a major obstacle to testing potential drug therapies for a rare, genetic … that they have succeeded in coaxing cultured cells to exhibit the signature traits of the disease. Using this … in the GBA gene. It affects one in every 50,000 to 100,000 people, but is more common in people of Ashkenazi …
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 of these inherited metabolic disorders … poor vision, and metabolic instability causing them to become seriously ill, sometimes with little warning. There …
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. … Manuscripts View a curated list of UDN Coordinating Center publications dating back to 2015. … The specific goals of UDN are to: (1) improve the level of diagnosis and care for patients …