My lab has focused over the last decade on studying pediatric ocular disorders as entry-points for identifying molecular pathways important to human disease. One area of interest has been coloboma, leading to a broader appreciation of the BMP signalling’s contribution to these pediatric disorders. A second has been Axenfeld-Rieger Syndrome, a pediatric glaucoma phenotype, where studies resulted in identification of novel phenotypes that include CNS structural anomalies, corneal vascularisation and most recently cerebrovascular disease (stroke). The clinical relevance is illustrated by recent identification of cerebral vasculopathy in some glaucoma patients, raising the possibility that perturbed brain vascular function may contribute to the progressive visual decline, previously attributed to optic nerve disease. General approaches in the lab integrate molecular genetics and functional analyses with study of model organisms, and benefit from very productive collaborations with vision scientists at the Universities of Alberta and Calgary [see: http://abvision-net.ca] as well as further afield.
A range of projects are available, including investigating the contribution of ciliary dysfunction to ocular and pediatric disease