Search Results
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… of the hereditary methylmalonic acidemias (MMA) and cobalamin metabolic disorders. The clinical research studies … the genetics, genomics and biochemistry of organic acid metabolism in model organisms, including roundworms, mice and … of the hereditary methylmalonic acidemias and disorders of intracellular cobalamin metabolism. These inherited …
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 … the generation of energy in our bodies. Inborn errors of metabolism (IEM) are a group of disorders that causes a block … our cells how to make the enzymes and the co-factors for metabolism. A mutation causes a gene to not function at all …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
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.
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
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.
… guidance on research into genetic diseases that disrupt metabolism. “Dr. Venditti has demonstrated expertise in the … focuses on genetic conditions that affect the body’s metabolism. These disorders often delay normal development … guidance on research into genetic diseases that disrupt metabolism. … NHGRI has selected Charles Venditti, M.D., …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… The Metabolism, Infection and Immunity (MINI) Study is a … To find all studies related to inborn errors of metabolism, type "inborn errors of metabolism" in the search box. … Goals … What's Involved? … …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… them. … People with Methylmalonic Acidemia (MMA)  and cobalamin disorders may have difficulty with growth and … ] Adams D., Venditti C.P. (February 2008) Disorders of Intracellular Cobalamin Metabolism. GeneReviews at GeneTests: Medical Genetics …
Media Availability
TCGA researchers have found that chromophobe renal cell carcinoma stems partly from gene alterations in the mitochondria, the cell's energy supplier.
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… manage, and counsel patients with inborn errors of metabolism. … Like the Medical Genetics Residency Program, … Ph.D. Hereditary methylmalonic acidemias and disorders of intracellular cobalamin metabolism … Applications to this program are …