The AANEM recognizes nonmembers who are major contributors to the fields of electrodiagnosis, neurophysiology, or neuromuscular (NM) disease with Honorary Membership. The 2014 Honorary Membership recipient is Salvatore (Billi) DiMauro, MD, for his scholarly achievements and clinical excellence.
“This is an incredible honor,” said Dr. DiMauro. “Throughout my career I have been fortunate to be able to pursue the biochemical and genetic recognition of ‘metabolic myopathies,’ based widely on inborn errors of energy metabolism, including defects of glycogen or fatty acids utilization, and defects of mitochondrial function.”
Dr. DiMauro became a professor at the Neurological Institute, Columbia University, and co-director of the H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases in 1978. In 1999, he became Director and, in 2009, Director Emeritus of the research center, where he has trained and mentored many NM disease researchers active in the myopathy field in the U.S., Italy, and Japan. Columbia University awarded him the Lucy G. Moses Professor of Neurology in 1991.
“My initial career choice was based on glycogen storage diseases, but I discovered the first patients with recurrent myoglobinuria due to their problem in fatty acid oxidation,” said DiMauro. His major research interests have been in metabolic and mitochondrial myopathy. He was the first to describe carnitine palmitoyltransferase (CPT) deficiency and phosphoglycerate mutase (PGAM) deficiency as a cause of myoglobinuria. Dr. DiMauro was instrumental, together with Drs. Danon and Oh, in describing the original cases of Danon’s disease and in identifying lysosomal associated membrane protein (LAMP-2) deficiency as its cause. In the field of mitochondrial myopathy, his group identified new mtDNA mutations of many mitochondrial myopathies and disorders in neurology.
Dr. DiMauro has published more than 500 peer-reviewed papers and more than 300 chapters on the subject of NM diseases. He edited 20 books on molecular genetics of NM diseases and mitochondrial myopathy and has been on editorial boards or editor for every major neurology journal, including Archives of Neurology, Neurology,
and Muscle & Nerve.
Because of achievements, he has received many scientific awards, including: First Walton Lecture, World Congress of Neurology, Sydney, Australia, 2005; Honoree, International Symposium on Recent Advances on Neuromuscular Disorders, Athens, Greece, 2009; Honorary Doctorate in Neuroscience, University of Messina, Italy, 2010; and since 2002 elected membership in the Institute of Medicine, the U.S. National Academy of Sciences.
“In the future of EDX/NM medicine I foresee new developments in novel glycogenoses affecting predominantly skeletal muscle, loaded with polyglucosan (PG), and the continuous new development with mitochondrial encephalomyopathies,” said DiMauro.
AANEM Achievement Awards
More information about AANEM Achievement Awards is available at www.aanem.org/awards