Dr. Salvatore DiMauro is a distinguished neurologist and internationally recognized authority in mitochondrial medicine with a career spanning over five decades. Born in Verona, Italy in 1939, he earned his medical degree from the University of Padua in 1963 and completed his neurology residency there in 1966 before undertaking postdoctoral research at the University of Pennsylvania. In 1974, he joined Columbia University Medical Center as an Associate Professor, establishing himself as a leading figure in the field of metabolic neurology. He was subsequently honored with the prestigious Lucy G. Moses Professorship of Neurology in 1991, a position he continues to hold with distinction.
Dr. DiMauro's pioneering research has fundamentally advanced our understanding of genetic errors in energy metabolism, with his work establishing the molecular basis for numerous mitochondrial and metabolic disorders. As an enzyme defect hunter, he documented the molecular mechanisms of many enzyme deficiencies including carnitine palmitoyltransferase deficiency, the first recognized error of fatty acid oxidation in humans. His landmark studies in the 1970s with colleagues at the University of Pennsylvania on Luft's disease established critical understanding of this prototypical mitochondrial disorder. Dr. DiMauro's research methodology combines biochemical and molecular approaches to define disease entities, resulting in scores of influential publications that have shaped the field of mitochondrial medicine.
Beyond his research contributions, Dr. DiMauro has significantly influenced the broader scientific community through his leadership as Director Emeritus of the H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases at Columbia University. He serves as a trustee on the United Mitochondrial Disease Foundation, actively contributing to patient advocacy and research funding initiatives. Recognized for his exceptional contributions, he was elected to the Institute of Medicine in 2002 and received the Robert S. Schwab Award from the American Clinical Neurophysiology Society in 2009. His influential textbook Mitochondrial Medicine, published in 2006, remains a seminal reference for clinicians and researchers worldwide, and his ongoing work continues to guide the development of diagnostic and therapeutic approaches for mitochondrial disorders.
