This research focuses on developing a potential gene therapy for ARSACS, a rare inherited neurological disease. Scientists created a smaller version of the faulty protein (called minisacsin) that can fit into a viral vector for delivery to nerve cells. In mouse models, early treatment with this therapy delayed or reduced disease symptoms, including movement problems and retinal changes. The team is now testing whether the therapy can also help after symptoms begin. Our results so far provide a better understanding of the ARSACS pathogenesis would complete preclinical studies aiming at developing a gene therapy for ARSACS.
Grant: $100,000
Duration: one year
Dr. Benoit Gentil & Dr. Heather Durham
Department of Kinesiology and Physical Education, McGill University
475 Pine Avenue West, room 210
Montreal (Québec) H2W 1S4
Contacts: heather.durham@mcgill.ca ; benoit.gentil@mcgill.ca