Grant: Doctoral Award - Frederick Banting and Charles Best Canada Graduate Scholarships

The introduction of next-generation sequencing technologies, more specifically whole-exome sequencing, has marked a new era in medical genetics. The coding genome can now be sequenced on a cost-effective basis, thus making this technology the major player in the identification of genes causing rare single-gene disorder. The cerebellar ataxias are a group of neurological disorders characterized by variable neuronal degeneration in the cerebellum with associated signs and symptoms. Twelve Franco-Ontarian (FO) families have been seen at the Children's Hospital of Eastern Ontario Neurogenetics Clinic with novel forms of AD-SCA. The FO cohort presents with a population history, clinical features, and investigations to date which suggest that the 12 families are likely explained by one or a few novel genes. Exome sequencing will be used to uncover novel genes implicated in spinocerebellar ataxia so that the disease mechanism can be identified, characterized and possibly modulated using small-molecule therapy. Knowledge gained from this research will have a direct impact on the clinical management of SCA patients by offering a precise molecular diagnosis, accurate genetic counselling, insight into natural history, and in the future potential interventions aimed at halting disease progression.