ARSACS is characterised by the lack of sacsin expression, and the formation of intermediate filaments bundles in neurons and fibroblasts derived from skin biopsies. Our strategy over the last years has been aimed at developing a replacement therapy, by peptide and/or gene vectors. The challenge of gene replacement therapies in ARSACS resides in the size of the sacsin coding sequence which is not compatible with current vectors used for gene therapies. Using our expertise in sacsin domains functions, we have determined the best domain to be used for the resorption of molecular biomarker of the disease. Our laboratory is moving forward the development of replacement therapies focused on the development of peptide and gene therapies. We have generated a vector for gene therapy and are moving forward our project to determine its efficiency in modifying the course of ARSACS pathology in mice models. Our project at the preclinical stage also received support from NeuroSphere, the McGill platform dedicated to innovation and partnership in neuroscience research, through the IGNITE award ($50,000). This convergence of support from the Foundation and NeuroSphere will advance investigations into the development and feasibility of gene therapy for ARSACS.
Duration: First year of a 2 year project
Dr. Benoit Gentil & Dr. Heather Durham
Department of Kinesiology and Physical Education, McGill University
475 Pine Avenue West, room 210, Montreal (Québec) H2W 1S4