Search Results
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 …
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. …