Recherche 2019

The major aims of this project are:

1) to evaluate the functional role of sacsin at the synaptic level, in particular its involvement in the control of calcium fluxes in Purkinje neurons at the postsynaptic space;

2) to strengthen the evidence of efficacy of an off-label drug regulating calcium homeostasis in ARSACS, by conducting a preclinical trial at post- symptomatic stage in Sacs-/- mice with a chronic treatment;

3) to dissect the mechanism by which this drug rescues ataxia and Purkinje cell degeneration in Sacs-/- mice, by evaluating effects on deregulated calcium homeostasis, NF bundling or faulty mitochondrial transport, integrated with multi-omics approaches.

Duration: One year

Funding: $100,000


Dr. Francesca Maltecca , Ospedale San Raffaele, Milan Italy.


This project uses the sacsin mutant mouse and mice lacking SARM1 to ask whether the progression of the cell loss in ARSACS can be slowed or prevented by removing SARM1. A positive outcome would make ARSACS a strong candidate for this therapeutic strategy.

Duration : 18 months

Grant: $144,689


Dr. Thomas L. Schwarz, Professor, F.M. Kirby Neurobiology Center Children’s Hospital, Boston and Dept.of Neurobiology
Harvard Medical School CLSB 12-130, 3 Blackfan Street, Boston, MA 02115
Tel:(617)-919-2219 (office) or (617)-919-2264 (lab)

The objectives of the project will be published at a later date.

Duration: 3-year funded project

Grant: 32,827 pounds

Contact :

Dr.Paul Chapple, Professor of Molecular Cell Biology
Centre for Endocrinology Barts and The London, Queen Mary’s School of Medicine and Dentistry
1st Floor North ,John Vane Science Building,Charterhouse Square
London, EC1M 6BQ
T: +44 (0) 20 7882 6242

Aim 1. Engineering cells with tagged SACS for purification

Aim 2. Purification and determination of SACS structure

Aim3: To purify and determine the structure of Canadian SACS mutants

Duration : 2 year project 
Grant: $74,000 in year 1

Dr. Walid A. Houry, Department of Biochemistry Faculty of Medicine, University of Toronto
661 University Avenue
Mars Centre, West Tower, Room 1612
Toronto, ON  Canada M5G 1M1
Tel: 416 946 7141; Fax: 416 978 8548

To validate the misregulation of tau in ARSACS and establish a platform from which to explore therapeutic targeting of proteins involved in tau pathology as a treatment for ARSACS.

Grant: $98,758

Dr. Anthony Hickey, Director of UNC Catalyst for Rare Diseases, University of North Carolina                        120 Mason Farm Road CB# 7356 Chapel Hill NC 27599
Tel: (919) 962-9819

Aim 1 Identifying druggable Targets for potential ARSACS treatment

Aim 2 Characterize pathophysiology for future druggable target development

Duration : 2 year funded project
Grant: $75,000

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:

Aim 1 Identifying druggable Targets for potential ARSACS treatment

Aim 2 Characterize pathophysiology for future druggable target development

Duration : 2 year funded project
Grant: $50,000

Dr. 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:

Aim 1: Sacsin’s role in dendritic spines morphology

Aim 1.1Assess the impact of sacsin loss on dendritic spines morphology

Aim 1.2. Assess the role of sacsin partners on dendritic spine morphology.

Aim 1.3. Study spine morphology in Sacs-/- mice.

Aim 1.4. Assess the role of sacsin on receptor internalization

Grant $100,000


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:

To develop small molecules that reverse the cellular phenotype of ARSACS into a drug that would stop the progression of the disease and/or lead to clinical improvement.

Grant: $160,000


Dr.Michel Bouvier, Institute for Research in Immunology and Cancer (IRIC)
IRIC | Université de Montréal C.P. 6128, succursale Centre-ville, Montréal (Québec) H3C 3J7
Tel: (514)-343-6319 ; Email:

To obtain preclinical proof-of-concept for ARSACS treatments based on:

1) a protein/gene replacement approach and

2) drug treatment using HDAC inhibitors.

Grant: $100,000


Dr. Benoit Gentil

Department of Kinesiology and Physical Education McGill University

475 Pine Avenue West, Room 210,Montreal, Quebec, Canada H2W 1S4

Tel: 514-398-8509; Fax: 514-398-1509