James R. Lupski

Cullen Professor of Molecular and Human Genetics and Professor of Pediatrics

Cullen Professor of Molecular and Human Genetics



Jim Lupski is Cullen Professor of Molecular and Human Genetics and Professor of Pediatrics and is ABMG certified in Clinical Genetics and Clinical Molecular Genetics (1993-2022). He received his initial scientific training at the Cold Spring Harbor Laboratory as an Undergraduate Research Participant (URP; summers of 1978 &’79) and at New York University obtaining his undergraduate degree in chemistry and biology (1979) and completing the MD/PhD program in 1985. In 1986 he moved to Houston, Texas for clinical training in pediatrics (1986-1989) and medical genetics (1989-1992) and then established his own laboratory at Baylor College of Medicine where he remains, and as of 1995, as the Cullen Professor. His research studies focus on trying to understand mutational mechanisms and linking specific mutations and genes to human disease. Dr. Lupski’s studies of neurologic and ophthalmic Mendelian diseases have advanced current understanding of: i) gene dosage in trait manifestation, ii) structural variation (SV) mutagenesis, iii) parental mosaicism in transmission genetics and recurrence risk, iv) mutational burden including triallelic inheritance, and v) the importance of recessive carrier states in susceptibility to complex traits. For his work in human genomics and the elucidation of genomic disorders Dr. Lupski was awarded a DSc honoris causa in 2011 from the Watson School of Biological Science at the Cold Spring Harbor Laboratory. He is a pioneer in personal human genome sequencing and his contributions have advanced whole genome sequencing to the point where it can be used not only to gain mechanistic insights into disease origins, initially on his own genome, but also to understand and manage the treatment of individual patients. He proposed the Clan Genomics hypothesis highlighting the roles of new mutation and rare variant contribution to disease. Dr. Lupski is an elected member of the American Association for the Advancement of Science (1996), the American Society of Clinical Investigation (1998), the National Academy of Medicine of the National Academies of Science (2002), and the American Academy of Arts and Sciences (2013). He has coauthored > 700 scientific publications, co-edited 3 books including the definitive text on genomic disorders, is a co-inventor on more than a dozen DNA molecular diagnostic patents, and has delivered over 520 invited lectures in 37 countries. In summary, as a physician-scientist and leader in the fields of human genetics, mutagenesis, and clinical genomics, Dr. Lupski has substantially defined the field of genomic medicine and his lab’s work has helped to foster the precision medicine initiative.