James R Lupski

James R. Lupski, M.D., Ph.D., D.Sc. (hon), is a Professor at Baylor College of Medicine, holding appointments in the Department of Molecular and Human Genetics and Department of Pediatrics. He is also affiliated with the Program in Integrative and Molecular and Biomedical Sciences, Program in Translational Biology & Molecular Medicine, and the Dan L Duncan Comprehensive Cancer Center.

• Education: BA (New York University), MD (New York University School of Medicine), PhD (New York University), DSc (hon) (Watson School of Biological Sciences, Cold Spring Harbor Laboratory)
• Postdoctoral Training: New York University, Baylor College of Medicine

Dr. Lupski's research focuses on the molecular genetics of Charcot-Marie-Tooth disease and related inherited neuropathies, genomic disorders, copy number variation (CNV), and structural variant mutagenesis. He pioneered the Clan Genomics hypothesis, which posits that recent mutations in familial genomes significantly impact disease susceptibility and personalized medicine. His work explores mechanisms of human genomic rearrangements, rare variant analysis, and their implications for molecular diagnostics and therapeutics.

His research has been pivotal in understanding nonrecurrent genomic rearrangements, Alu/Alu-mediated structural variation, and genotype-phenotype correlations in Mendelian and complex traits. The Clan Genomics framework has been globally validated through large-scale genomic studies.

• Scientific Awards:
  • The Cullen Foundation Endowed Chair in Molecular Genetics
  • Member, American Neurological Association
  • Member, National Academy of Medicine
  • Member, American Society for Clinical Investigation
  • Fellow, American Association for the Advancement of Science

Contact: jlupski@bcm.edu