Dr. Thoene is a native of California and attended undergraduate studies at Stanford University, majoring in chemistry. He attended medical school at Johns Hopkins University. His pediatric residency was in the Harriet Lane Home Pediatric program at Johns Hopkins and he completed a 3 year fellowship in metabolic genetic disease at the University of California, San Diego. His research interests include investigation of the pathophysiology of cystinosis, and understanding the molecular biology of lysosomal transport. Clinically he is interested in the diagnosis and treatment of inborn errors of metabolism with particular emphasis on urea cycle disorders, organic acidemias, and cystinosis. A member of the American Society of Clinical Investigation, Dr. Thoene also holds memberships in the American Society of Human Genetics, the American Pediatrics Society, the American Society of Biochemistry and Molecular Biology and the American Society of Gene Therapy. He was chairman of the National Commission of Orphan Diseases 1988-1989. He is past chairman of the Board of the National Organization for Rare Disorders. He was a Joseph P. Kennedy, Jr. fellow in Washington, D.C. and is the editor of the Physicians's Guide to Rare Diseases. Currently, he is Karen Gore Professor of Pediatrics , Director of the Hayward Genetics Center/ Human Genetics Program at Tulane University Health Sciences Center.