“Analyzing the influence of ARSACS mutations on the function of human neurons derived from induced pluripotent stem cells.” – Dr. Peter McPherson and Dr. Edward Fon

The researchers will use genome editing of hiPSCs to test the hypothesis that point mutations in the SACS gene lead to alterations in mitochondrial function and neurofilament organization in neurons derived from ARSACS patients. Specific aim 1: Generate genome-edited neurons from fibroblasts of ARSACS patients. Specific aim 2: Examine the influence of sacsin mutations on the cell biological properties of human neurons. Duration: two years Grant: $100,000 per year Contacts: Dr. Peter McPherson, Associate Professor, Montreal Neurological Institute McGill Institute Tel:(514)-398-7355; Email: peter.mcpherson@mcgill.ca Dr. Edward Fon,Professor, Director McGill Parkinson Program Montreal Neurological Institute, McGill Institute Tel:(514)-398-8398; Email: ted.fon@mcgill.ca