Dr. James R. Lupski, vice chair and professor of molecular and human genetics at Baylor College of Medicine, has been named a fellow of the American Academy of Arts and Sciences.
Lupski discovered several disease genes, including the first gene for Charcot-Marie Tooth syndrome and, with Dr. Richard Gibbs, director of the BCM Human Genome Sequencing Center, and using whole genome sequencing, he identified the gene for the form of that disorder that affects him. He pioneered a new understanding of genetic diseases, showing that rearrangements, duplications and deletions within the structure of chromosomes could result in genetic disease. The so-called copy number variation (CNV) and gene dosage theory revolutionized thinking about how such genomic disorders occur. His studies of the molecular mechanisms for disease associated CNV also have influenced thought regarding gene and genome evolution. He and Dr. Lorraine Potocki, also of BCM, identified a duplication, postulated to exist from first principles derived from mechanistic studies, on chromosome 17 that causes a disorder known as Potocki-Lupski syndrome.
Lupski, who holds the Cullen Endowed Chair in Molecular Genetics, received his bachelor’s and doctoral degrees from New York University and graduated from New York University Medical School. He did his residency in pediatrics and a fellowship in medical genetics at BCM. In 2005, he took a research sabbatical at the Wellcome Trust Sanger Institute in Cambridge, U.K.
He holds an honorary doctorate of science (D.Sc.) from the Watson School of Biological Sciences at Cold Spring Harbor Laboratory in New York for his work on genomic disorders and human genomics.
Dr. John Mendelsohn, immediate past president of The University of Texas MD Anderson Cancer Center in Houston and now professor of experimental therapeutics there, and Dr. Richard Tapia, director of the Center for Excellence and Equity in Education at Rice University, also were named 2013 fellows.
Other fellows from BCM include Dr. Bert W. O’Malley, chair of molecular and cellular biology, and Dr. JoAnne Richards, professor of molecular and cellular biology.
Founded in 1780, the American Academy of Arts and Sciences is an independent policy research center that conducts multidisciplinary studies of complex and emerging problems. The Academy’s elected members are leaders in the academic disciplines, the arts, business, and public affairs.