The American Society of Human Genetics (ASHG) has honored Dr. James Lupski, Cullen Professor of Molecular and Human Genetics and professor of pediatrics at Baylor College of Medicine, with the 2018 Victor A. McKusick Leadership Award.                

This award, named in honor of the late Dr. Victor A. McKusick, 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.

“I knew Victor McKusick quite well and have had many meaningful scientific discussions with him,” said Lupski, who also is the attending medical geneticist at Texas Children’s Hospital and member of the NCI-designated Dan L Duncan Comprehensive Cancer Center at Baylor. “He was a terrific physician-scientist, visionary and true leader, and this award in his name is a tremendous honor for me.”

Lupski’s research focuses on understanding mutational mechanisms and linking specific mutations and genes to human disease. Lupski started his laboratory at Baylor in 1989, where he still resides. His most significant contributions to genomics are centered on conceptualizing and understanding the mechanisms underlying genomic disorders, which is seen through his studies of Charcot-Marie Tooth (CMT) disease – specifically, duplication of the CMT1A gene. In 1991, Lupski showed that CMT1A copy number variation and gene dosage are causes of CMT-related peripheral nerve dysfunction. In 2014, Lupski and 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.

His group was also the first to describe non-allelic homologous recombination as a mechanism for copy number variation formation and chromosomal aberrations. These discoveries, with parallels and potential applications to other genomic disorders, furthered scientific understanding of the relationships between genetic variants and disease outcomes, helped define the field of genomic medicine and are paving the way for precision medicine

“This award is a well-deserved recognition of Dr. Lupski’s achievements as a physician-scientist and leader in human genetics research,” said Dr. David L. Nelson, professor of molecular and human genetics at Baylor and president of ASHG.

In addition to his scientific leadership, Lupski received an honorary doctorate in 2011 from the Watson School of Biological Science at the Cold Spring Harbor Laboratory. He has coauthored more than 700 scientific publications, including 88 in The American Journal of Human Genetics, and is a co-inventor on more than a dozen molecular diagnostic patents. A longtime member of ASHG, Lupski served on the ASHG Board of Directors from 2000-02 and was a member of the ASHG Nominating Committee in 2004. 

ASHG will present the McKusick Award, which will include a plaque and $10,000 prize, to Lupski on Tuesday, Oct. 16, during the organization’s 68th Annual Meeting in Orlando, Fla.