The American Society of Human Genetics (ASHG) has named James R. Lupski, MD, PhD, as the 2018 recipient of the Victor A. McKusick Leadership Award. Dr. Lupski is Cullen Professor of Molecular & Human Genetics and Professor of Pediatrics at Baylor College of Medicine and attending medical geneticist at Texas Children’s Hospital in Houston, Texas. This award, named in honor of the late Victor A. McKusick, MD, of Johns Hopkins, recognizes individuals whose professional achievements have fostered and enriched the development of human genetics as well as its assimilation into the broader context of science, medicine, and health. The ASHG presented the McKusick Award, which will include a plaque and $10,000 prize, to Dr. Lupski on Tuesday, October 16, during the organization’s 68th Annual Meeting in San Diego, California. “I knew Victor McKusick quite well and have had many meaningful scientific discussions with him,” said Dr. Lupski. “He was a terrific physician-scientist, visionary, and true leader, and this award in his name is a tremendous honor for me.” Dr. Lupski’s research focuses on understanding mutational mechanisms and linking specific mutations and genes to human disease. Dr. Lupski started his laboratory at Baylor College of Medicine in 1989, where he still resides. His most significant contributions to genomics are centered around conceptualizing and understanding the mechanisms underlying genomic disorders. This is seen through his studies of Charcot-Marie Tooth (CMT) disease – specifically, duplication of the CMT1A gene. In 1991, Dr. Lupski showed that CMT1A copy number variation (CNV) and gene dosage are causes of CMT-related peripheral nerve dysfunction. In 2014, he and his colleagues found that the presence of three copies of CMT1A on one chromosome 17, a phenomenon known as triplication, causes a more severe form of CMT. Dr.Login Or Register To Read Full Story