RMC Member and RMC Vice Chair Professor, University of Toronto
Dr. Lucy Osborne is an associate professor at the Institute of Medical Science (IMS) conducting research at the forefront of medical genetics. She is a world expert on the deletion and duplication of a small but fascinating region of the genome, 7q11.23 on chromosome 7, which contains just 25 genes. The deletion of this region on one of the pairs of chromosome 7 leads to Williams-Beuren syndrome (WBS). WBS is a rare neurodevelopmental disorder that affects nearly every system in the body. Individuals with WBS are often overly social, and autism-like traits are common. Intellectual disability, elf-like facial features, anxiety disorders, and cardiovascular problems are also characteristics of WBS. “Studying the genes affected in WBS provides an opportunity to understand the molecular basis of symptoms that occur in WBS as well as other conditions,” Osborne explains.
In addition to maintaining her active research program, Osborne remains involved in the IMS and her cross-appointed departments of Medicine and Molecular Genetics. She is an instructor in the popular IMS course titled ‘Molecular Medicine in Human Disease,’ a member of the IMS curriculum committee, and she recently participated in the IMS strategic planning initiative. She is currently supervising three graduate students through IMS and estimates that she is a member of no less than 20 program advisory committees. Despite her impressive career track and funding support from the Canadian Institutes of Health Research and the Simons Foundation Autism Research Initiative, when asked about her seamless pathway into such an outstanding academic career Osborne claims that there is no secret to her success. Her advice to aspiring young scientists and graduate students is sound: “Just work hard, and you’ll get out what you put in.”
