Dr. DiMauro attended the University of Padua, Italy, where he obtained his MD degree and completed training in Neurology. Between 1969 and 1974, he was a Postdoctoral Fellow, Instructor and Assistant Professor in the Department of Neurology at the University of Pennsylvania, Philadelphia. In 1974, he became Associate Professor at the Neurological Institute, Columbia University, New York. And in 1978, he was named Co-Director of the H. Houston Merritt Clinical Research Center at Columbia. He served as Director of the H. Houston Merritt Center from 1999 to 2010. Dr DiMauro is currently the Lucy G. Moses Professor of Neurology at Columbia University.

The H. Houston Merritt Clinical Research Center investigates inborn errors of energy metabolism leading to neuromuscular disorders. More generally, the Center provides biochemical and molecular diagnostic tests for most glycogen storage diseases. Correct diagnosis is important for genetic counseling, appropriate treatment when available, and rational dietary and exercise regimens.

Because of their high energy needs, muscle and nerve are especially vulnerable to genetic defects of metabolism. Adult Polyglucosan Body Disease (APBD) affects nerve and muscle in two ways. First, polyglucosan bodies are large, inert, intracellular particles that make it difficult for muscle to contract and for nerve to conduct sensory and motor signals. Second, the disorder interferes with the production of adequate glucose from glycogen stores.