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: 2nd year of the project
Grant: $100,000 per year
Dr. Peter McPherson, Professor, Montreal Neurological Institute McGill Institute
Tel:(514)-398-7355; Email: email@example.com
Dr. Edward Fon, Professor, Director McGill Parkinson Program
Montreal Neurological Institute, McGill Institute
Tel:(514)-398-8398; Email: firstname.lastname@example.org