Salvatore DiMauro
Salvatore DiMauro, M.D., was born in
Verona, Italy, November 14, 1939, graduated in
medicine from the
University of Padua in 1963 and completed his
residency in
neurology in 1966. He then completed a postdoctoral fellowship in the Department of
Neurology at the
University of Pennsylvania.
His
research focuses on
genetic errors of energy metabolism and he defines disease entities using both
biochemical and
molecular approaches. As an "
enzyme defect hunter", DiMauro has documented the molecular basis of many enzyme deficiencies, including
carnitine palmitoyltransferase deficiency, the first error of
fatty acid oxidation to be recognized in
humans. With colleagues at the
University of Pennsylvania in the 1970s, DiMauro studied the second patient ever with Luft's disease, the prototypical (though also the rarest)
mitochondrial disease.
He is a
Professor of
Neurology at
Columbia University, director of the H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Associate Chair of Related Diseases for Laboratory Research and Training.
He is a trustee on the United Mitochondrial Disease Foundation.
Prof. DiMauro has scores of publications. He also has several books to his credit. His last book is titled Mitochondrial Medicine and was published in 2006.
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