Research Projects

$1M for ARSACS research in 2017-2018

12 researchers will share close to $1M in the  2017-2018 period. This will allow them to pursue their research on ARSACS and hopefully to develop a treatment. Note: the project descriptions  are not translated.

"Complete the characterization of Sacsin Interacome and establish how it is modified in disease and by therapeutic compounds "– Dr. Bernard Brais and Dr. Eric Shoubridge

 

Project description to come

 

 

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

"Completing the first high-throughput drug screening using an ARSACS fibroblast assay "– Dr. Bernard Brais and Dr. Michel Bouvier

Project description to come

 

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.Michel Bouuvier, Institute for Research in Immunology and Cancer  (IRIC)

Université de Montréal | Pavillon Marcelle-Coutu | local 1306-5
Tel: (514)-343-6111 poste 0914 ; Email:  www.iric.ca

"Integrated Structural Studies Using Electron Microscopy and Cristallopraphy" – Dr Kalle Gehring

Project description to come.

Duration: one year
Grant: $98,350
Contact:

Dr Kalle Gehring

Dr Kalle Gehring

Dr. Kalle Gehring, Professor Department of Biochemistry MCGill University
Francesco Bellini Life Sciences Building, 3649 promenade Sir-William-Osler, Office: Room 469; Lab: Room 473, Montreal, Quebec H3G 0B1
Tel:(514)-398-7287; Lab: (514)-398-2873/1496; Fax:(514)-398-2983; Email: kalle.gehring@mcgill.ca

" "Role of Neurofilaments in the Pathogenic Cascade of ARSACS" – Dr. Heather Durham

 

Project description to come

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

"Disrupted Protein Homeostasis in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay""- Dr. Paul Chapple

Dr. Paul Chapple

Dr. Paul Chapple

The objectives of the research project are to:

1. Identify the proteostasis systems that are activated in sacsin null cells

2. Identify proteins that are recruited to the aggresome-like structure in sacsin null cells

3. Identify if there is evidence for disruption of proteostasis systems in human ARSACS neurons.

 

 

 

 

Duration: Second year of a three year project
Grant: 18,965 Pounds ($32,400CDN) per year
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

 

"Caractérisation des déficiences musculaires associées aux difficultés à la marche et aux transferts chez les patients atteints de l'ARSACS :de la cellule à la fonction"- Dr Luc Hébert

Caractériser les déficiences de force et de contrôle de mouvements volontaires et les limitations d’activité liées à la mobilité; 2) caractériser leurs interrelations; et 3) identifier les variables cliniques qui expliquent le mieux les limitations d’activités telle que la vitesse de marche.

Dr. Luc J. Hébert

Dr. Luc J. Hébert

 

Durée: un an
Bourse : $73,300

Contact:

Dr.Luc Hébert , Chercheur, CIRRIS,

Bureau H-1702 . IRDPQ, 525 boulevard Hamel, Québec QC  G1M 2S8

Téléphone: 418-529-9141 poste 6579

"Characterizing and Ameliorating Axonal Transport Defects in ARSACS Mice"- Dr. Thomas Schwartz

 

 

Project description to come

 

Duration: one year

Grant: $74,000USD

Contact:

Dr. Thomas L. Schwarz

Dr. Thomas L. Schwarz

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)

"Elucidating mechanisms underlying motor coordination rescue in a mouse model of ARSACS " – Dr. Alanna Watt and Dr. Anne McKinney.

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: second year of the project
Grant: $165,000 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

"Investigating the Link Between Impaired Mitochondrial and Calcium Dysregulation in SACS/Purkinje Neurons " – Dr. Francesca Maltecca

The research project has three specific objectives: to test the distribution of mitochondria in distal dendritic branches of Sacs primary PCs; to evaluate dysregulation of Ca2+ homeostasis in Sacs mice and finally to test the efficacy of targeted therapy in Sacs mice.

Duration: Second year of a two year project
Grant: $100,000
Contact:

Dr. Francesca Maltecca

Dr. Francesca Maltecca

Dr. Francesca Maltecca, Phd, Neurogenomics Unit(4A2)
San Raffaele Scientific Institute,Via Olgettina,58,20132 Milan, Italy
Tel:39 022643.9116; 022643.4777; Email: francesca.maltecca@hsr.it

"Mapping drug-Sacsin interactions and mitochondrial assemblies in ARSACS patient fibroblasts"- Dr.Mohan Babu

Aim 1- Mapping GI network of ARSACS-associated SACS target using CRISPR
1.1. Quantitative readout for scoring GIs
1.2. GI validation and benchmarking

Aim 2 – Characterizing ARSACS-linked SACS pathways for function discovery

Duration: one year
Grant: $69,500
Contact:

Dr. Mohan Babu

Dr. Mohan Babu

Dr.Mohan Babu, Asst. Professor CIHR New Investigator,Department of Biochemistry University of Regina
Saskatchewan SK S4S 0A2
Tel:(306)-585-4192; Email: mohan.babu@uregina.ca