Research 2017

The Italian Ministry of Health will fund the project “Insight into new therapeutic preclinical strategies in Autosomal Recessive Spastic
Ataxia of Charlevoix-Saguenay type” presented by:

Dr. Filippo M. Santorelli, Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa.

Dr. Francesca Maltecca

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

Dr. Gianni Ciofani, Smart Bio-Interfaces, Istituto Italiano di Tecnologia (IIT), Pontedera (PI)

Summary of the Project:

“Autosomal recessive spastic-ataxia of Charlevoix-Saguenay (ARSACS) is a multisystem hereditary ataxia associated with mutations in SACS, encoding sacsin, a protein whose function is only in part understood. Mutations in SACS impair chaperone-mediated protein-folding activity and mitochondrial(mt) dynamics in Sacs knock-out (KO) mice and human ARSACS cells. Our challenge is to find tools capable to reverse sacsin defects in mice and to identify biomarkers of efficacy in clinical trials. We will use a dual approach: we will analyze mt functionality in Purkinje cells needed to fine tuning new treatment opportunities in Sacs KO mice and will seek for prognostic/predictive biomarkers in patients in order to design new intervention strategies aimed at overcoming brain alterations. To cope with brain alterations in ARSACS and in similar neurological conditions with altered mt functionality, we will also test new nanovectors to easy drug delivery in mutant cells.”

 

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

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

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

 

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

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

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

 

 

 

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)

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

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