Salvatore DiMauro, MD

Salvatore DiMauro was born in Verona, Italy, and graduated in Medicine in 1963 at the University of Padua, where he completed his residency in Neurology in 1966. In 1968, he obtained a postdoctoral fellowship to do clinical research in the Department of Neurology at the University of Pennsylvania. In 1974, he became Associate Professor at the Columbia University Medical Center (CUMC). In 1991 he was named Lucy G. Moses Professor of Neurology.

Throughout his career, Dr. DiMauro has kept a focused interest on inborn errors of energy metabolism, recognizing unusual patients through clinical observation, and using both biochemical and molecular approaches to define disease entities. He started as an "enzyme hunter" (and in 1973 discovered CPT deficiency, the first defect of fatty acid oxidation in humans) and became interested in the molecular bases of inborn errors of metabolism, especially mitochondrial encephalomyopathies.

Although Dr. DiMauro started as a myologist, his studies of mitochondrial diseases have taken him back to the brain. His interest in the relationship between mitochondrial disorders and mental retardation has been recognized by the National Institute for Child Health and Human Development (NICHD), which supports a Program Project entitled "Mitochondrial Encephalomyopathies and Mental Retardation", which is now in its 20th year. Dr. DiMauro has been Director of the H. Houstom Merritt Clinical Research Center from 1999 to 2009.

He has received honorary degrees from the Université de la Mediterranée, Marseille, France, the University of Pisa, Italy, and the University of Messina, Italy. Since 2002 he is a member of the Institute of Medicine (IOM).