Profile and Department: Professor, Molecular Genetics, University of Toronto
Lab: Osborne Lab
My research focuses on rearrangements of human chromosome 7q11.23. We study the deletion disorder Williams-Beuren syndrome, as well as it’s reciprocal duplication disorder, and have helped elucidate the range of complex chromosomal rearrangements associated with this part of chromosome 7. We are currently using animal models, human samples and reprogrammed induced pluripotent stem cells to understand the molecular and cellular bases of the cognitive and behavioural aspects of these syndromes.