VERNE S. CAVINESS, JR., M.D., Ph.D., is the Giovanni Armenise Professor of Neurology at the Harvard Medical School and former Chief of the Division of Child Neurology in the Departments of Neurology and Pediatrics, Massachusetts General Hospital, Boston. He received his undergraduate degree from Duke University, M.D. from Harvard Medical School and D.Phil. from Oxford University. The primary focus of Dr. Caviness' research has been on the mechanisms of brain development, including a series of investigations on the formation of brain cells and on specific genetic mutations in the cerebral cortical development of mice. He has studied patterns of brain growth and genetic mutations disrupting this growth in otherwise normal children who have a variety of learning and behavioral disabilities. These career-long clinical research efforts, especially the exploration of genetic mutations that disrupt normal growth, make Dr. Caviness' participation particularly significant to the work of the Canavan Foundation.
DARRYL C. DE VIVO, M.D., (Committee Chair), is the Sidney Carter Professor of Neurology, Professor of Pediatrics, and Director Emeritus (1979-2000) of the Pediatric Neurology Service at Columbia University Medical Center in New York City. He also is the Associate Chairman for Pediatric Neurosciences and Developmental Neurobiology, and the Founding Director of the Colleen Giblin Research Laboratories for Pediatric Neurology at Columbia University Medical Center. Dr. De Vivo did his undergraduate work at Amherst College, received his medical degree from the University of Virginia School of Medicine, and completed postgraduate training in medicine, pediatrics, and neurology at the Massachusetts Memorial Hospitals and the Massachusetts General Hospital, as well as at the National Institutes of Health where he was a Clinical Associate in Neurology. Dr. De Vivo and his research team are committed to the study of metabolic diseases that adversely affect the developing brain in infants and young children, with a strong focus on mitochondrial disorders and metabolic conditions that affect delivery of glucose to the brain. Dr. De Vivo was Director for Neurology and past President, American Board of Psychiatry and Neurology, Secretary of the American Academy of Neurology, Trustee of the American Academy of Neurology Foundation and past President of the Child Neurology Society. He has published over 400 original articles and reviews, lectures extensively in the U.S. and abroad, serves on several editorial boards and advisory committees and is former Associate Editor for Rudolph’s Textbook of Pediatrics. Dr. De Vivo’s Chairmanship of the Canavan Foundation’s Scientific/Medical Committee is further evidence of his dedication to helping children with life-threatening and potentially devastating neurodegenerative diseases.
SALVATORE DI MAURO, M.D., is Lucy G. Moses Professor of Neurology and Director Emeritus of the H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases at Columbia University. A native of Verona, Italy, Dr. DiMauro went to medical school and completed a residency in neurology at the University of Padua. Subsequently Dr. DiMauro pursued clinical research in the Department of Neurology at the University of Pennsylvania in Philadelphia. Combining his interest in mitochondrial disease with the study of bioenergetics and molecular genetics, Dr. DiMauro defined the molecular bases of several genetic deficiencies. He was the first to document a biochemical defect in fatty acid metabolism (carnitine palmitoyltransferase [CPT] deficiency). His research group identified many mitochondrial DNA mutations, and contributed to the definition of defects of the "dialogue" between nuclear and mitochondrial genomes. Today, he is part of a multidisciplinary group of "mitochondriacs" that is considered one of the best in the world. Dr. DiMauro has published well over 500 original articles, lectures all over the world, and has received honorary degrees from the Université de la Mediterranée (Marseilles, France), the University of Pisa, and the University of Santiago de Compostela (Spain). Since 2002, he is a member of the Institute of Medicine of the National Academy of Sciences, USA.
EDWIN H. KOLODNY, M.D. is a neurologist and geneticist with a special interest in inherited diseases of the nervoussystem. He served as Chairman of the Department of Neurology at the New York University School of Medicine from 1991-2010 and currently holds the title of Professor Emeritus at NYU. He is a Fellow of the American Academy of Neurology and also of the American College of Medical Genetics. He has authored or co-authored over 300 research articles, book chapters and reviews and two books, most of which are devoted to inherited diseases of the nervous system. Currently, he serves as the Co-Director of the Neurogenetics Laboratory at the NYU-Langone Medical Center and works on clinical trials of new drugs for rare orphan diseases. His consultation activities include the Gaucher Initiative of Project Hope and the Tay-Sachs Disease Gene Therapy Consortium.
ISABELLE RAPIN, M.D., (Emerita) recently retired from a position as Professor of Neurology and Pediatrics (Neurology) and Attending Neurologist and Child Neurologist at the Albert Einstein College of Medicine, Bronx, New York, and its affiliated hospitals. After graduating from medical school in Lausanne, Switzerland, Dr. Rapin completed a pediatric internship at New York University-Bellevue Medical Center and a neurology residency and pediatric neurology fellowship at the Neurological Institute of Columbia-Presbyterian Medical Center, New York City. At Einstein, she founded and served as Director of the Child Neurology Service and Fellowship Training Program. Her research interests centered on neurogenetic disorders and those of higher cerebral function in children, particularly communication disorders and autism. As a clinician, Dr Rapin cared for many children with genetic metabolic disorders, among them some two dozen children with Canavan disease.
DAVID A. WENGER, Ph.D., is a Professor in the Department of Neurology and Director of the Lysosomal Diseases Testing Laboratory at Jefferson Medical College in Philadelphia. After obtaining his Ph.D. in biochemistry, he did two postdoctoral fellowships. One was at The Weizmann Institute of Science in Israel and one at the University of California-San Diego where he worked with Dr. John S. O’Brien who found the enzymatic defect that causes Tay-Sachs disease. After moving to the University of Colorado School of Medicine, Dr. Wenger did research on a number of genetic diseases, including Gaucher disease (one of the first genetic disorders for which successful enzyme therapy is available), Niemann-Pick disease and Krabbe disease. He started a laboratory that is devoted to the study of lysosomal enzymes that cause neurodegenerative diseases. Reflecting his increased commitment to finding effective treatment for genetic neurological diseases, currently Dr. Wenger combines his diagnostic services for lysosomal disorders with research on Krabbe disease in the Department of Neurology at Jefferson Medical College. Current research is aimed at finding new ways to treat Krabbe disease initially using the available animal models.