Ocular genetics gene therapy inherited retinal dystrophies choroideremia
I am an ophthalmologist and clinical geneticist. After completing my academic training, I began my professional career in Ottawa as an Ontario Ministry of Health Career Scientist. I moved to the University of Alberta in 1992 and served three terms as the Department Chair of Ophthalmology and Visual Sciences. For two years (2007-8) I served as Branch Chief, Ophthalmic Genetics and Visual Function at the National Eye Institute of the National Institutes of Health, Bethesda, MD before returning for an extended fourth term as Chair of the Department. While now Emeritus Professor, I continue to work full time in clinical practice, teaching and research.
My research interests are in heritable ocular disorders. With funding from CFI, CIHR, Alberta Innovates-Health Solutions, Fighting Blindness Canada and the Choroideremia Research Foundation Canada, Inc., I organized a team of researchers and clinicians that completed the first investigator-sponsored trial of ocular gene therapy in Canada. We are grateful for the gracious support of Prof. Robert MacLaren of Oxford University in that effort. The Laboratory continues to study the immune mechanisms that are triggered in viral vector-mediated gene therapies. We continue to broaden out understanding of the genetics of choroideremia and appraise clinical outcome measures of gene therapy.
Clinical teaching occurs in conjunction with an Ocular Genetics clinic. With several colleagues linked the Alberta Vision Net and a senior PhD candidate, I organize and teach a graduate level course in Ocular Genetics. My current laboratory has three graduate students (two working on cellular immune responses to viral vectors; one working on a macular dystrophy caused by variants in the RP1L1 gene).
At the annual meeting of the Canadian College of Medical Geneticists (2021), I will receive a Lifetime Achievement award.