Skip to main content

Charles P. Venditti, M.D., Ph.D.

Charles P. Venditti
Senior Investigator
Medical Genomics and Metabolic Genetics Branch

Organic Acid Research Section

B.S. Massachusetts Institute of Technology, 1988
M.D., Ph.D. Pennsylvania State University, 1996

T: (301) 496-6213
F: (301) 402-4929
Building 10, Room 7N248A
10 CENTER DR, MSC 1646
BETHESDA, MD 20892-1646

Selected Publications

Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders

YouTube videoMethylmalonic Acidemia (MMA) Gene Therapy - Charles Venditti and Randy Chandler

The Organic Acid Research Section (OARS) studies a group of inborn errors of metabolism, the hereditary methylmalonic acidemias (MMA), and disorders of intracellular cobalamin metabolism. What has remained both perplexing and challenging is the wide spectrum of clinical phenotypes presented by the patients and the generally untreatable nature of many of the complications they display, such as renal disease in patients with isolated MMA and progressive visual deterioration in those with cobalamin C (cblC) deficiency. The Venditti lab has adopted a translational approach, integrating both clinical and basic science investigations, and use MMA and related conditions as the target for its studies.

The Venditti lab's intramural research program has focused on defining the natural history of MMA and disorders of intracellular cobalamin metabolism in the NIH Clinical Center, investigating the disorders in the laboratory using genetics and genomics, and developing new treatments. Patient investigations are coupled to studies in murine and zebrafish models, and allow new pathophysiological insights to be derived. Genetic, genomic, and animal modeling experiments are executed in parallel to clinical work and serve as a platform for the investigation of new therapeutics, including small molecules and gene therapies. The researchers expect that their studies will have general applicability to related medical conditions, such as chronic kidney disease, as well as pharmacologic, environmental and genetic conditions associated with secondary mitochondrial dysfunction. New insights derived from the combination of clinical and laboratory studies will guide future efforts to develop better treatments for patients with MMA and disorders of intracellular cobalamin metabolism.


Dr. Charles P. Venditti received a S.B. from the Massachusetts Institute of Technology in 1988 and was an M.D., Ph.D. scholarship recipient at Penn State University. After graduation in 1996, he completed a pediatrics residency at Massachusetts General Hospital/Harvard Medical School (1996-1999) and a combined clinical and biochemical genetics fellowship (1999-2003) at the Children's Hospital of Philadelphia/University of Pennsylvania School of Medicine. After his fellowship, he joined NHGRI as a member of the Physician-Scientist Development Program (2003-2008) and then as a tenure track investigator in the Genetics and Molecular Biology Branch (2008-current).

He is board-certified in pediatrics, clinical genetics and biochemical genetics and is an attending physician at the Mark O. Hatfield Clinical Center at NIH, where he has initiated a translational research program to study the natural history and clinical phenotype(s) of the hereditary methylmalonic acidemias (MMA) and cobalamin metabolic disorders. The clinical research studies are paralleled by laboratory investigations that have focused on the development of experimental systems to study the genetics, genomics and biochemistry of organic acid metabolism in model organisms, including roundworms, mice and zebrafish. Using a translational research approach, Dr. Venditti and his colleagues have published a number of papers that connect disease pathophysiology in MMA to mitochondrial dysfunction and prove the efficacy of gene therapy as a treatment for both methylmalonic acidemia and propionic acidemia.

In 2009, he was the recipient of a Presidential Early Career Award for Scientists and Engineers (PECASE), the U.S. government's highest honor for early-career scientists. Other awards include selection as an Outstanding New Investigator from the American Society of Gene and Cell Therapy in 2010 and election into the American Society of Clinical Investigation (ASCI) in 2012. Dr. Venditti is a member of numerous professional organizations in the fields of inborn errors of metabolism, genetics and gene therapy and serves on the medical advisory board of the Organic Acid Association (OAA).

Scientific Summary

Top of page

Last Updated: March 6, 2015