James R. Lupski

Dr. James R. Lupski is the Cullen Endowed Professor of Molecular and Human Genetics; Professor of Pediatrics; Professor, Program in Integrative and Molecular and Biomedical Sciences; and Professor, Program in Translational Biology and Molecular Medicine at Baylor College of Medicine. He is also a practicing Clinical Geneticist and and Clinical Molecular Geneticist at Texas Children's Hospital. His research has had a major impact on the elucidation of human genetic diseases involving complex genomic rearrangements. Through studies of Charcot-Marie-Tooth peripheral neuropathy (CMT), a common autosomal dominant trait due to a submicroscopic 1.5 Mb duplication, and Smith-Magenis syndrome, a contiguous gene deletion syndrome, his laboratory delineated the concept of 'genomic disorders' and established the critical role of copy number variation (CNV) and gene dosage in conveying human disease phenotypes. An increasing number of human diseases result from recurrent DNA rearrangements (examples include: obesity, autism and schizophrenia) involving unstable genomic regions and have thus been classified as genomic disorders. Recently, his laboratory's CMT studies resulted in the first personal genome sequence to identify a disease gene by whole genome sequencing and demonstrated the utility of whole genome sequencing for optimizing patient management. These investigations further elucidated the potential role of rare variants in complex traits such as carpal tunnel syndrome and fibromyalgia. Lupski has received widespread recognition for his work including the 2002 Curt Stern Award from the American Society of Human genetics, fellowship in the American Association for the Advancement of Science, and membership in the American Neurological Institute, Institute of Medicine of the National Academies, American Society for Clinical Investigation, and Society for Pediatric Research, in addition to his American Academy of Arts and Sciences Membership. He has coauthored over 515 scientific publications in journals such as Nature, Nature Genetics, and New England Journal of Medicine, and is a co-inventor on more than 20 patents.