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Dr. Jim Lupski, the Cullen Endowed Chair in Molecular Genetics and professor of molecular and human genetics at Baylor College of Medicine.

Dr. Jim Lupski, the Cullen Endowed Chair in Molecular Genetics and professor of molecular and human genetics at Baylor College of Medicine, has been named the recipient of the 2014 Environmental Mutagenesis and Genomics Society Award for his extensive contributions towards characterizing human mutations and linking them to disease.

The Society confers the award annually in recognition of outstanding research contributions in the area of environmental mutagenesis and genomics.

Lupski has discovered several disease genes, including the first gene for Charcot-Marie Tooth syndrome and, with Dr. Richard Gibbs, director of the Baylor Human Genome Sequencing Center, using whole genome sequencing, he identified the gene for the form of that disorder that affects him.

Genetic pioneer

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 copy number variation also have influenced thought regarding basic mechanisms for DNA recombination and replication as well as providing insights into human 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.

Expert on copy number variation

“Dr. Lupski proposed and advanced the concept of genomic disorders, conditions related to pathogenic copy number variation and the inherent architecture of the human genome that results in genomic instability,” said Drs. Ofelia Olivero and Suzanne Morris, president and vice president (respectively) of the Society. “Thus, Dr. Lupski and colleagues have made a remarkable number of seminal contributions to the understanding of human mutation and these accomplishments have established Dr. Lupski as one of the foremost experts in the world on copy number variation.”

Lupski, 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 Baylor. 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.

Lupski will be recognized for his award Sep. 16 at the Society’s annual meeting in Orlando, Florida.

The Society’s mission is to foster scientific research and education on the causes and mechanistic bases of DNA damage and repair, mutagenesis, heritable effects, epigenetic alterations in genome function, and their relevance to disease, and to promote the application and communication of this knowledge to genetic toxicology testing, risk assessment, and regulatory policy-making bodies to protect human health and the environment.