Search Results

1 - 10 of 270
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
Metabolism is a sequence of chemical reactions that take place in cells in the body. … of nutrients and the generation of energy in our bodies. Inborn errors of metabolism (IEM) are a group of disorders that …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… physicians to diagnose, manage, and counsel patients with inborn errors of metabolism. … Like the Medical Genetics Residency Program, …
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 … of numerous professional organizations in the fields of inborn errors of metabolism, genetics and gene therapy and serves on …
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.
… Patrick Forny, M.D., Ph.D. 11:30 - 12:00 p.m. Role of Mitophagy in Methylmalonic Acidemia Alessandro Luciani, … NHGRI 10:05 - 10:30 a.m. Remethylation Defects in the Inborn Errors of Vitamin B12 (cobalamin) Metabolism David S. …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
… … Over the past year, the Intramural Research Program of the National Human Genome Research Institute (NHGRI) has been reorganized. As part of this reorganization, the Center for Research on Genomics and Global Health (CRGGH) is now part of the newly-created Metabolic, Cardiovascular, and …
Research at NHGRI
The Metabolic Medicine Branch houses clinical and laboratory research programs that focus on the development of new therapies for patients with genetic disorders.
… laboratory research programs that focus on the development of new therapies for patients with genetic disorders. … The … organoid, zebrafish and mouse models to mimic aspects of the conditions in the laboratory. MMB members collaborate … to identify new genes, study the transcriptional programs of single cells and explore the side-effects of gene therapy. …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… natural history study at the National Institutes of Health (NIH) that  aims to define the relationship between … search box: NCT01780168. To find all studies related to inborn errors of metabolism, type "inborn errors of metabolism" in …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… (MCIDGB) studies the genomic and social determinants of complex diseases. … Investigators focus, in particular, on … data to document and interpret the non-random distribution of human genetic variation, as well as to understand human … Africa-H3Africa-project, this branch facilitates inclusion of populations currently underrepresented in the genomic …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… foods" are designed to help manage patients with rare inborn errors of metabolism (IEMs), and can help prevent serious and …
News Release
NHGRI has selected Charles Venditti, M.D., Ph.D., as chief of its Metabolic Medicine Branch within the Institute’s Intramural Research Program. In this role, he will provide leadership and guidance on research into genetic diseases that disrupt metabolism.
… laboratory research programs that focus on the development of new therapies for patients with genetic disorders. … The National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), has selected … guidance on research into genetic diseases that disrupt metabolism. “Dr. Venditti has demonstrated expertise in the …