Grant: Emerging Team Grant: Rare Diseases - Basic/Clinical

We propose a collaborative, multidisciplinary approach to further our understanding of choroideremia (CHM), a rare eye disorder, and develop a gene therapy protocol for its treatment. CHM is a sex-linked progressive retinal disorder that results in legal blindness in the third decade of life and may result in complete blindness later in life, depriving affected individuals of livelihood and diminishing their quality of life. Currently there is no treatment for this disorder. Gene therapy, shown to be effective in Leber congenital amaurosis, another heritable retinal disease, offers the best opportunity to prevent vision loss in CHM patients. This proposal fits the criteria for an Emerging Team Grant for Rare Diseases, combining both basic and clinical research. Our University of Alberta team will combine clinical and basic research with experts in human genetics, ophthalmology, clinical trials (MacDonald, Tennant), health policy (Bubela), as well as basic scientists with expertise in cell biology, visual neuroscience and pharmacology (Posse de Chaves and Sauvé). Their expertise will assist in the development of health policy in gene therapy and in the exploration of ethical, legal and societal issues that arise from gene therapy initiatives. By providing this research opportunity, a CIHR Emerging Team grant will enable the development of research expertise in ocular gene therapy in Canada, foster the development of a clinical trial targeting a rare genetic disease and encourage synergies of research direction. By undertaking an ocular gene therapy experiment for CHM, our team will help pave the way for others in Canada to consider potential treatments based on gene therapy in the eye. In a collaborative framework, we plan to work with patients, patient organizations, clinicians and researchers to develop ethical practices and risk communication strategies to ensure the responsible translation of gene therapy for this human eye disorder.