Spotlight with Lucy Osborne
By: Nancy Butcher
Dr. Lucy Osborne is an associate professor in 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.
Osborne began her work on WBS as a postdoctoral fellow in Dr. Lap-Chee Tsui’s group at the University of Toronto (U of T) following the completion of her PhD on cystic fibrosis at the University of London in England. This move across the pond marked the beginning of Osborne’s successful career at U of T. During her fellowship, Osborne identified and mapped the genes that are deleted in WBS, and soon after she was hired by the University to lead her own research on the 7q11.23 region. She takes a multi-faceted approach to her research, studying both a large cohort of WBS patients as well as knockout mouse models of the syndrome to investigate genotype-phenotype correlations and the molecular pathways disrupted in WBS. According to Osborne, “Knowledge of the pathways that lead to the symptoms of WBS is largely unknown and needed in order to develop proper treatments.”
As a part of her research on WBS, Osborne and her colleagues have made an important discovery: the duplication of the region that is deleted in WBS leads to a separate, identifiable syndrome, called 7q11.23 duplication syndrome. Individuals with 7q11.23 duplication syndrome have three copies of the genes located in the 7q11.23 region and have a phenotype that is milder than WBS. The mechanisms underlying the symptoms that appear in individuals with 7q11.23 deletions and duplications remain largely elusive. To elucidate this ambiguity, Osborne takes a new approach to an old problem through the investigation of changes in DNA methylation patterns in WBS patients. She suspects this may help explain some of the wide-ranging clinical features observed in WBS. Her research group also examines mouse cells and utilizes human-induced pluripotent stem cells to study how the genetic changes in WBS may lead to abnormal neuronal functioning and wiring.
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.”