Research 2016

Continue the investigation of sacsin partners using the BioID assay, using the full length sacsin as well as different sacsin mutants and to further characterize ARSACS fibroblast cytoskeletal disorganization as a cell-based model.

Duration: one year
Grant: $100,000
Contacts:

Dr. Bernard Brais

Dr. Bernard Brais

Dr. Bernard Brais, co-director of the neuromuscular group of the Montreal Neurological Institute and Hospital
3801 University Street Montreal, Quebec, Canada H3A 2B4
Tel:(514)-398-3334; Email: bernard.brais@mcgill.ca

Dr Eric Shoubridge

Dr Eric Shoubridge

Dr. Eric Shoubridge, Montreal Neurological Institute and Hospital
3801 University Street Montreal, Quebec, Canada H3A 2B4
Tel: (514)-398-1997; Email: eric.shoubridge@mcgill.ca

The research project has two specific aims: to continue experiments to determine if loss of sacsin functions in NF metabolism plays a central role in pathogenesis of ARSACS and to determine the effect of sacsin domains on the phenotype in our ARSACS culture models and based on those data to develop a therapeutic peptide to move forward in preclinical testing.

Duration: one year
Grant: $100,000
Contact:

Dr Heather Durham

Dr Heather Durham

Dr. Heather Durham, professor McGill University
Tel:(514)-398-8509; Email: heather.durham@mcgill.ca

The McKinney and Watt labs, which are located in close proximity in the Bellini Life Sciences Complex and who already share a mouse colony of ARSACS mice (Sacs-/-) will determine the physiological mode of action of TPS-100 a pharma and aminopyridines on Purkinje cell function, including synaptic input and output. They will work closely together, to elucidate the mechanism of action of TPS-100, which has been shown to rescue motor function in ARSACS mice (personal communication,B. Brais), or similar other therapeutic agents. This work will advance the goal of a therapeutic intervention for ARSACS.

Duration: two years
Grant: $140,000 per year
Contacts:

Dr. Alanna Watt

Dr. Alanna Watt

Dr. Alanna Watt, Department of Biology McGill University Bellini Life Sciences Bldg.
3469 Sir William Osler, Montreal, Quebec Canada H3G 0B1 Office: Rm. 265 | Lab: Rm. 257
Tel: (514)-398-2806; Fax: (514)-398-5069; Email: alanna.watt@mcgill.ca

Anne McKinney

Anne McKinney

Dr. Anne McKinney, Department of Pharmacology and Therapeutics,
McGill University Bellini Life Sciences Bldg
3469 Sir William Osler, Montreal, Quebec Canada H3G 0B1
Tel: (514)-398-5685; Fax: (514)-398-2045; Email: anne.mckinney@mcgill.ca