Projets de Recherche

La Fondation Ataxia Charlevoix-Saguenay a reçu encore cette année plusieurs propositions innovatrices. La Fondation tient à remercier tous les candidats pour leur intérêt et pour la qualité de leurs soumissions.

Le comité scientifique a sélectionné les 8 projets suivants pour la période 2019-2020 dans le but de développer un traitement pour l’Ataxie Charlevoix-Saguenay. ( Il est à noter que la description n’est disponible qu’en version anglaise).

Merci également à tous nos donateurs pour avoir rendu cette recherche possible.

Il est à noter que la description des projets de recherche n’est disponible qu’en anglais.

Elucidating Mechanisms Underlying Motor Coordination Rescue in a Mouse Model of ARSACS – Dr. Alanna Watt

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
Contacts:

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

Elucidating Mechanisms Underlying Motor Coordination Rescue in a Mouse Model of ARSACS – Dr. Anne McKinney

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
Contact:

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: anne.mckinney@mcgill.ca

Hyperphosphorylation in ARSACS. – Dr. Anthony Hickey

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
Contact:

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

Sacin’s role in Synapses: Early Pathological Changes in ARSACS- Dr. Bernard Brais

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

Contact

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

Treatment in ARSACS Mouse Model: Efficacy, Mode of Action and New Molecular Targets – Dr. Francesca Maltecca

Aim1: to strengthen the evidence of CEF efficacy in ARSACS, by conducting a preclinical trial at postsymptomatic stage in Sacs-/- mice with a chronic treatment in an enlarged cohort of mice;

Aim2: to define the mechanism by which CEF rescues ataxia and PC degeneration in Sacs-/- mice, by evaluating effects on deregulated Ca2+ homeostasis, NF bundling or faulty mitochondrial transport;

Aim3: to functionally evaluate the interaction of sacsin with CACNA2D2.

Grant : $100,000

Contact:

Dr. Francesca Maltecca

Dr. Francesca Maltecca, Universita Vita-Salute San Raffaele
Via Olgettina 60 20132 Milan, Italy
Tel:39 022643.9116; Fax: 39 022643.6352 ; Email: maltecca.francesca@hsr.it

Optimization of Active Molecules Towards a Pre-Clinical in Vivo Proof of Mechanism of ARSACS Phenotype Reversal – Dr. Michel Bouvier

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

Contact

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: michel.bouvier@umontreal.ca

Therapeutic Approaches for ARSACS- Dr. Benoit Gentil

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

Contact

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

email: benoit.gentil@mcgill.ca

Is ARSACS A Tauopathy?- Dr. Paul Chapple

  1. Establish if misfolding and aggregation of tau occurs in sacsin knockout cells.
  2. Test if loss of tau function occurs in sacsin knockout cells.
  3. Determine if tau degradation is reduced in sacsin knockout cells.
  4. Investigate if reducing total cellular levels of tau and/or tau phosphorylation rescues the intermediate filament and/or mitochondrial phenotypes of sacsin knockout cell.

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
E: j.p.chapple@qmul.ac.uk