Ataxia Charlevoix-Saguenay Foundation
In 2006, the Foundation was created and funded the first research to be undertaken since the identification of the Ataxia gene in 2000. It was crucial to begin research in order to discover a treatment for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS).
Since its creation, the Foundation has funded several research projects related to this neurological disorder. The Foundation is a charitable organization and is supported entirely by private donations and volunteers who support the cause.
Research Objectives
The main research objective of the Ataxia Charlevoix-Saguenay Foundation is to develop a treatment for ARSACS. Every year the Foundation financed several research projects in Canada and abroad. The efforts of the Foundation are concentrated currently in three main research areas:
Financing of several promising research projects with reearchers that are experts in this field.
Forming partnerships with other organizations and pharmaceutical companies to further the understanding of this disease and conduct independent research.
Conducting clinical trials
Scientific Advisory Board
All applications for research grants are evaluated by the Scientific Advisory Board of the Ataxia of Charlevoix-Saguenay Foundation according to specific criteria.
Research Grants
To further encourage and accelerate the development of a treatment for ARSACS, the Ataxia Charlevoix-Saguenay Foundation provides grants and opportunities to researchers.
This year, the call for proposals of the Ataxia of Charlevoix-Saguenay Foundation is jointly supported by the “Richardson Research Fund” to fund ARSACS research projects.
As part of this funding offer, the Ataxia Charlevoix-Saguenay Foundation in collaboration with the “Richardson Research Fund” offers up to a maximum of $100,000 CAD per project and up to $25,000 CAD per project to support start-up initiatives (Seed Grant).
Both types of grants are awarded for a 12-month period, with the possibility of renewal. For more information and to apply : ARSACS Call for Proposals and Application Form.
ARSACS Research Projects
2026-2027
The Foundation gratefully acknowledges the generous support of the Richardson Trust Fund and Action for ARSACS Foundation USA (AFA) in helping fund the 2026–2027 ARSACS research projects.
Des patients ARSACS à travers le monde
Au début cette maladie dégénérative était associée à une région spécifique Charlevoix-Saguenay. De plus en plus, cette maladie se retrouve chez plusieurs groupes ethniques différents dans le monde. Article paru dans Research Gate Publication.
Dr. Gagnon – New pilot project
Dr. Cynthia Gagnon will undertake a pilot project entitled "Un meilleur contrôle du tronc et des membres inférieurs pour une meilleure mobilité: Évaluation d’un programme de réentraînement pour les personnes atteintes de l’ARSACS". This pilot project aims to document...
Dre Gagnon – Un nouveau projet pilote
Dre Cynthia Gagnon entreprendra un projet pilot intitulé "Un meilleur contrôle du tronc et des membres inférieurs pour une meilleure mobilité: Évaluation d’un programme de réentraînement pour les personnes atteintes de l’ARSACS". Ce projet pilote a pour objectif de...
Presentation by Dr. Francesca Maltecca
Dr. Francesca Maltecca is giving an overview of her research project.
Vidéo du Dre Francesca Maltecca
Présentation du Dre Francesca Maltecca de son projet de recherche.
Dr. Cynthia Gagnon “Researcher of the Year “
Congratulations! Dr. Cynthia Gagnon has received the "Researcher of the Year" national award given by Muscular Dystrophy Canada. Dr. Gagnon is a member of the ARSACS research team. Article published in the Quotidien on Wednesday, November 28, 2018. (Article in French...
Dre Cynthia Gagnon “Chercheuse de l’année”
Féliciations! Dre Cynthia Gagnon a reçu le Prix national Dr George Karpati à titre de chercheur de l'année remis par Dystrophie musculaire Canada. Dre Gagnon est membre de l'équipe de recherche sur l'ARSACS. Article paru dans le Quotidien mercredi le 28 novembre,...
ARSACS project at CHEO
“Screening of the Pfizer Chemo-Genetics 3000 compound library for ARSACS” – a new research project to be undertaken shortly at the Children’s Hospital of Eastern Ontario in Ottawa. Stay tuned!
Un projet ARSACS au CHEO
"Screening of the Pfizer Chemo-Genetics 3000 compound library for ARSACS" - un nouveau projet de recherche qui débutera prochainement au Children's Hospital of Eastern Ontario à Ottawa. À suivre.
Launch of the International ARSACS Patient Registry
If you or a family member has received an ARSACS diagnostic, you are invited to register. It is easy and simple. The registry is available in 4 languages English, French Spanish and in Italian. This is a way for you to support the cause.
Nouveau registre international des patients ARSACS
Si vous ou un membre de votre famille avez reçu un diagnostic ARSACS, vous êtes invités à vous inscrire au registre international des patients ARSACS. C'est simple et facile. Le registre est en 4 langues: français, anglais,italien et espagnol. C'est une façon pour...
Molécules envoyées par le Structural Genomics Consortium pour essais sur l’ARSACS
Le Structural Genomics Consortium de Francfort enverra prochainement des molécules à l’Institut de recherche en immunologie et cancérologie de l’Université de Montréal pour des essais sur l’ARSACS.
Structural Genomics Consortium sending molecules to test on ARSACS
The Structural Genomics Consortium in Frankfurt will be sending shortly some molecules to the Institute for Research in Immunology and Cancer of the University of Montreal. These molecules will be tested on ARSACS.
Using Stem Cell Therapies for ARSACS
Dr. Salver Erceg, in Valencia (Spain), explains in a short video how he is using stem cell therapies to investigate in vitro the affected cells in ARSACS patients. This research project is funded by the Foundation.
Utilisation de cellules souches pour l’ARSACS
Dr Salver Erceg, de Valence en Espagne, explique dans une courte vidéo comment il utilise des cellules souches pour étudier in vitro les cellules des patients atteints de l'ARSACS. Ce projet de recherche est financé par la Fondation. ( Vidéo en anglais seulement)
$1Million raised at the Diner des Producteurs 2018. Thank you !
Thanks to your generosity, the Foundation can continue to fund research on ARSACS with the aim of developing a treatment for this rare disease. Special thanks to the co-chairs Mrs. Erin Slater Battat and Mr.Joe Battat, chefs, sponsors,donors and all the volunteers....
1 000 000$ recueillis lors du Diner des Producteurs 2018. Merci!
Grâce à votre générosité, la Fondation peut continuer à financer la recherche sur l'ARSACS dans le but de développer un traitement pour cette maladie rare. Nous remercions tout particulièrement les coprésidents, Mme Erin Slater Battat et M. Joe Battat, les chefs, les...
Chercheurs de renommée internationale au 5ième Symposium sur l’ARSACS
Environ 50 chercheurs de renommée internationale ont partagé leurs données et leurs connaissances sur l'ARSACS au Symposium organisé par le Neuro à Montréal. Dr. Brais, l'expert au Québec sur cette maladie rare, explique pourquoi il est important de réunir ces...
World experts at the 5th International Symposium on ARSACS
About 50 world expert researchers on ARSACS shared their data and knowledge at the International ARSACS Symposium hosted by the Neuro in Montreal. Dr. Brais, Neuro's leading expert on ARSACS, describes why this is an important conference.
Study of Dr. Gentil’s team published in the FASEBJ
The study "Sacsin, mutated in ataxia ARSACS, regulates intermediate filament assembly and dynamics" has been published on October 23,2018 in the Federation of American Societies for Experimental Biology Journal (FASEBJ)."For the time being, this is a very interesting...
FASEBJ publie l’étude de l’équipe du Dr Benoit Gentil
L'étude “Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics” a été publiée le 23 octobre 2018 dans le Federation of American Societies for Experimental Biology Journal(FASEBJ). "For the time being, this is a very interesting...
Sacsin, mutated in ataxia ARSACS, regulates intermediate filament assembly and dynamics
Sacsin, mutated in ataxia ARSACS, regulates intermediate filament assembly and dynamics – Dr. Benoit Gentil. Published in FASEBJ..
PROGRAMME – 5ième Symposium International sur l’ARSACS
Le 5ième Symposium International sur l'ARSACS arrive à grands pas. Programme pour les deux jours du Symposium. Le public est invité à rencontrer les chercheurs le mercredi 31 octobre à 14:30. Joingnez vous à nous!
AGENDA – 5th International ARSACS Symposium
The 5th ARSACS Symposium is very soon. AGENDA for the 2 days. The public is invented to meet the ARSACS researchers on Wednesday October 31 at 4:30. Come and join us!
ARSACS article published in the Orphanet Journal of Rare Diseases
"From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay" a study which evaluates the motor performance of individuals with ARSACS, was published in the Orphanet Journal of Rare...
L’Orphanet Journal of Rare Diseases publie une étude de nos chercheurs
"From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay", un article qui fait un portrait des personnes atteintes en lien avec les fonctions motrices, a été publié dans...
5th International Symposium on ARSACS on October 31st
The 5th International Symposium on ARSACS will be held in Montreal on October 31st. The agenda will be posted on the website over the next few days. For the first time, the public is invited to attend. The guest speakers at the Symposium will present their research in...
Nouveauté au 5ième Symposium International sur l’ ARSACS le 31 octobre
Le 5e Symposium International sur l'ARSACS se tiendra à Montréal le 31 octobre prochain. L'agenda sera posté sur le site au cours des prochains jours. Nouveauté cette année. Le public est invité à y assister. En effet, les conférenciers présenteront leur recherche...
Study of Dr. Durham’s team to be published in the FASEBJ
The study "Sacsin, mutated in ataxia ARSACS, regulates intermediate filament assembly and dynamics" will be published in the Federation of American Societies for Experimental Biology Journal (FASEBJ). "For the time being, this is a very interesting study that needs to...
FASEBJ publiera l’étude de l’équipe du Dre Heather Durham
L'étude “Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics” sera publiée dans le Federation of American Societies for Experimental Biology Journal(FASEBJ). "For the time being, this is a very interesting study that needs to be...
From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay
From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay – Dr. Cynthia Gagnon. Published in Orphanet Journal of Rare Diseases..
“An exploratory natural history of ataxia of Charlevoix-Saguenay” in the Neurology Journal
Dr. Cynthia Gagnon and her team studied the decline of upper and lower limb functions in adults with ARSACS over a 2 year period. The study has been published in the Neurology Journal in August 2018.
L’étude de l’équipe du Dre Cynthia Gagnon publiée dans le Neurology Journal
Dre Cynthia Gagnon et son équipe ont étudié le déclin des fonctions des membres supérieurs et inférieurs chez les adultes atteints d'ARSACS sur une période de deux ans. L'étude "An exploratory natural history of ataxia of Charlevoix-Saguenay" a été publiée dans le...
ARSACS researchers published in the Journal of Physiology
The research article of Dr. Anne McKinney and Dr. Alanna Watt entitled "Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS" has been published in the latest issue of the Journal of Physiology. See article
Nos chercheurs publiés dans la revue Journal of Physiology
Le Journal of Physiology publie dans sa récente édition l'article scientifique du Dre Anne McKinney et Dre Alanna Watt "Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS". Voir Article
“Above all, do not ever give up hope”- Brandi Brown
"Become an advocate, become involved, share advice, tell your story so that other parents with children with neurodegenerative disorders can learn from it. Above all, do not ever give up hope". Interview with Mrs Brandi Brown, mother of a daughter with ARSACS.
“Surtout, ne perdez jamais espoir” – Brandi Brown
"Devenez un champion de la cause, impliquez-vous, partagez des conseils, racontez votre histoire pour que d'autres parents d'enfants ayant des troubles neurodégénératifs puissent en tirer des leçons. Surtout,ne perdez jamais espoir". Entrevue avec Mme Brandi Brown,...
An exploratory natural history of ataxia of Charlevoix-Saguenay
An exploratory natural history of ataxia of Charlevoix-Saguenay – Dr. Cynthia Gagnon. American Academy of Neurology..
Integrated Validation Pipeline for Candidate Drugs for ARSACS- Dr. Bernard Brais
The aims of the project are to validate candidate compounds in neurons and to combine genomics and proteomics strategies to pinpoint pathways affected by candidate drugs. Duration: One year Grant : $80,000 Contact Dr. Bernard Brais, co-director of the neuromuscular...
Integrated Validation Pipeline for Candidate Drugs for ARSACS- Dr. Bernard Brais
The aims of the project are to validate candidate compounds in neurons and to combine genomics and proteomics strategies to pinpoint pathways affected by candidate drugs. Duration: One year Grant : $80,000 Contact Dr. Bernard Brais, co-director of the neuromuscular...
Foundation funds an additional project
The Foundation will fund Dr. Brais' second research project for an amount of $80,000 in 2018-2019. The aims of the project "Integrated Validation Pipeline for Candidate Drugs for ARSACS" are to validate candidate compounds in neurons and to combine genomics and...
La Fondation finance un autre projet de recherche
La Fondation finance un deuxième projet de recherche du Dr Brais au montant de 80,000$ en 2018-2019. Le projet "Integrated Validation Pipeline for Candidate Drugs for ARSACS" a pour objectif de valider les composantes candidates dans les neurones et de combiner les...
It’s easy to support ARSACS research even if you live outside Canada
You live outside Canada and you wish to support research on ARSACS but you do not know how? It is easy. Just send by mail a cheque in your local currency to the Ataxia Charlevoix-Saguenay Foundation, 1000 Sherbrooke O, bureau 2100, Montreal QC H3A 3G4. Thank you for...
C’est facile d’aider la recherche même si vous vivez à l’extérieur du Canada
Vous vivez à l'extérieur du Canada et vous souhaitez aider la recherche sur l'ARSACS mais vous ne savez pas comment? C'est facile. Envoyez par la poste un chèque en devise locale à la Fondation de l'Ataxie Charlevoix- Saguenay, 1000 Sherbrooke O, bureau 2100, Montréal...
Follow us and Share it with friends & followers
The Foundation site is now connected to social media. Follow us and share the news with your friends & followers via Twitter or Facebook.
Suivez nous et partagez les nouvelles
Le site de la Fondation est maintenant connecté aux réseaux sociaux. Suivez nous et partagez les nouvelles avec vos amis et abonnés via Twitter ou Facebook.
$1M in funding, 16 researchers working on 12 projects with the goal of finding a treatment for ARSACS.
16 researchers will share close to $1M in funding this year to pursue research on ARSACS. A total of 12 research projects have been selected by the Foundation for 2018-2019 with the goal of finding a treatment for ARSACS. The Foundation would like to thank all the...
1M$ , 16 chercheurs sur 12 projet pour développer un traitement pour l’ ARSACS.
16 chercheurs se partageront près de 1M$ cette année pour poursuivre la recherche sur l'ARSACS. Au total 12 projets ont été choisis par la Fondation pour 2018-2019 dans le but de développer un traitement. La Fondation tient à remercier tous ceux qui ont soumis un...
Elucidating Mechanisms Underlying Motor Coordination Rescue in a Mouse Model of ARSACS- Dr. Alanna Watt and Dr. Anne McKinney
Description Aim 1 Elucidate mechanism underlying MitoQ rescue of motor coordination in Sacs-/- mice: (i)test mitochondrial dynamics and morphology using Mito-tracker administered intracellularly in Purkinje cells in treated and untreated Sacs−/− mice, (ii) test...
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 : 2nd year of the funded projectGrant: $50,000Contact: Dr. Anne McKinney, Department of Pharmacology and...
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 : 2nd year of the funded projectGrant: $75,000Contacts: Dr. Alanna Watt,Department of Biology McGill...
Elucidating Mechanisms Underlying Motor Coordination Rescue in a Mouse Model of ARSACS- Dr. Alanna Watt and Dr. Anne McKinney
Description Aim 1 Elucidate mechanism underlying MitoQ rescue of motor coordination in Sacs-/- mice: (i)test mitochondrial dynamics and morphology using Mito-tracker administered intracellularly in Purkinje cells in treated and untreated Sacs−/− mice, (ii) test...
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, Department of Biology McGill University Bellini...
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, Department of Pharmacology and Therapeutics,...
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,...
Phenotyping ARSACS in Vitro Using hiPSCs Reprogrammed from Patients and Differentiated into Motor Neurons and Schwabb cells – Dr. François Berthod
The objectives are to: (1) develop and characterize a 3D in vitro human model constituted of fibroblasts, motor neurons, Schwann cells and myoblasts that recapitulate the ARSACS phenotype at the motor neuron scale, (2) determine whether the ARSACS phenotype is...
Phenotyping ARSACS in Vitro Using hiPSCs Reprogrammed from Patients and Differentiated into Motor Neurons and Schwabb cells – Dr. François Berthod
The objectives are to: (1) develop and characterize a 3D in vitro human model constituted of fibroblasts, motor neurons, Schwann cells and myoblasts that recapitulate the ARSACS phenotype at the motor neuron scale, (2) determine whether the ARSACS phenotype is...
Unbiased Sacsin Client Identification and Genetic Intervention in a Mouse Model of ARSACS- Dr. Stephen Strack
This research project utilizes Sacs KO mice to answer two fundamental questions: 1) Can we leverage recent advances in quantitative proteomics to uncover early biomarkers and perhaps drivers of ARSACS pathology in the cerebellum? 2) Can genetic modulation of the...
Unbiased Sacsin Client Identification and Genetic Intervention in a Mouse Model of ARSACS- Dr. Stephen Strack
This research project utilizes Sacs KO mice to answer two fundamental questions: 1) Can we leverage recent advances in quantitative proteomics to uncover early biomarkers and perhaps drivers of ARSACS pathology in the cerebellum? 2) Can genetic modulation of the...
Exploring Neuronal Roles for Sacsin: from Dendritic Spines to Neuronal Polarity- Dr. Bernard Brais
The focus will be on Aim 1. The objective is to submit a paper that will elucidate the role of Sacsin and EndoB2 in dendritic spines that will include our BioID results. Aim 2. We will explore if a neuronal polarity defect in cytoskeletal protein trafficking might...
Sacin’s role in Synapses: Early Pathological Changes in ARSACS- Dr. Bernard Brais
Aim 1: Sacsin’s role in dendritic spines morphology Aim 1.1. Assess 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....
Exploring Neuronal Roles for Sacsin: from Dendritic Spines to Neuronal Polarity- Dr. Bernard Brais
The focus will be on Aim 1. The objective is to submit a paper that will elucidate the role of Sacsin and EndoB2 in dendritic spines that will include our BioID results. Aim 2. We will explore if a neuronal polarity defect in cytoskeletal protein trafficking might...
Sacin’s role in Synapses: Early Pathological Changes in ARSACS- Dr. Bernard Brais
Aim 1: Sacsin’s role in dendritic spines morphology Aim 1.1. Assess 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...
Unravelling Progression Biomarkers in ARSACS: a Multicenter, Transmodal Combined Fluid Biomarker and Magnetic Resonance Imaging Study – Dr. Matthis Synofzik and Dr. Roberta La Piana
A combined transmodal fluid biomarker and neuroimaging study to unravel progression biomarkers for ARSACS, bringing together a unique transatlantic, multi-center consortium which will yield the by far largest , most comprehensive biomarker investigation in ARSACS...
Unravelling Progression Biomarkers in ARSACS: a Multicenter, Transmodal Combined Fluid Biomarker and Magnetic Resonance Imaging Study – Dr. Matthis Synofzik and Dr. Roberta La Piana
A combined transmodal fluid biomarker and neuroimaging study to unravel progression biomarkers for ARSACS, bringing together a unique transatlantic, multi-center consortium which will yield the by far largest , most comprehensive biomarker investigation in ARSACS...
Unravelling Co-Translational Quality Control of Mutant Sacsin in the ARSACS Pathogenesis – Dr. Francesca Maltecca
The main objectives of this research project are to: (i) verify if a co-translational QC is the cause of sacsin absence in patients, thus uncovering the earliest step in ARSACS pathogenesis; (ii) ameliorate genotype-phenotype correlation in ARSACS by assaying residual...
Unravelling Co-Translational Quality Control of Mutant Sacsin in the ARSACS Pathogenesis – Dr. Francesca Maltecca
The main objectives of this research project are to: (i) verify if a co-translational QC is the cause of sacsin absence in patients, thus uncovering the earliest step in ARSACS pathogenesis; (ii) ameliorate genotype-phenotype correlation in ARSACS by assaying residual...
Caractérisation du profil clinique de la clientèle pédiatrique atteinte de l’ARSACS- Dre Cynthia Gagnon
Les objectifs de ce projet sont de : 1. Documenter les atteintes motrices des membres inférieurs et supérieurs des enfants atteints d’ARSACS en termes de coordination, endurance et vitesse de marche, force des mains et sévérité de la maladie; 2. Déterminer la validité...
Caractérisation du profil clinique de la clientèle pédiatrique atteinte de l’ARSACS- Dre Cynthia Gagnon
Les objectifs de ce projet sont de : 1. Documenter les atteintes motrices des membres inférieurs et supérieurs des enfants atteints d’ARSACS en termes de coordination, endurance et vitesse de marche, force des mains et sévérité de la maladie; 2. Déterminer la validité...
Development of Optimized Molecules That Reverse The Molecular Phenotype of ARSACS – Dr. Michel Bouvier
The goal of this project is 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. The project is a multidisciplinary collaboration between Dr Bernard...
Optimization of Active Molecules Towards a Pre-Clinical in Vivo Proof of Mechanism of ARSACS Phenotype Reversal – Dr. Michel Bouvier
The goal is 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...
Development of Optimized Molecules That Reverse The Molecular Phenotype of ARSACS – Dr. Michel Bouvier
The goal of this project is 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. The project is a multidisciplinary collaboration between Dr Bernard...
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)...
Functional and Structural Studies of Sacsin Using Baculovirus Expression Systems- Dr. Kalle Gehring
The central goal is to obtain pure full-length sacsin in high enough concentration for structural and functional assays. We also aim to express and study the interaction of large multidomain fragments of sacsin. These will allow us to study the structure of sacsin by...
Functional and Structural Studies of Sacsin Using Baculovirus Expression Systems- Dr. Kalle Gehring
The central goal is to obtain pure full-length sacsin in high enough concentration for structural and functional assays. We also aim to express and study the interaction of large multidomain fragments of sacsin. These will allow us to study the structure of sacsin by...
Axonal Transport and Axonal Survival in ARSACS Mice- Dr. Thomas Schwarz
The goal of this project is to develop therapeutic interventions that would ameliorate the degeneration of neurons in ARSACS. Specific Aims. 1. Test compounds that enhance mitochondrial motility in rat hippocampal neurons to determine if they also enhance motility in...
Axonal Transport and Axonal Survival in ARSACS Mice- Dr. Thomas Schwarz
The goal of this project is to develop therapeutic interventions that would ameliorate the degeneration of neurons in ARSACS. Specific Aims. 1. Test compounds that enhance mitochondrial motility in rat hippocampal neurons to determine if they also enhance motility in...
High-throughput Screening of Small Molecule Libraries to Identify Novel Therapeutics for ARSACS Using Patient Cells – Dr. Paola Giunti and Dr. Suran Nethisinghe
This research consists of : 1. Establishing baseline measurements for our mitochondrial and cytoskeletal phenotypic readouts on the Perkin Elmer Opera Phenix High Content Screening platform. We will use tetramethylrhodamine methyl ester perchlorate (TMRM, a cationic...
High-throughput Screening of Small Molecule Libraries to Identify Novel Therapeutics for ARSACS Using Patient Cells – Dr. Paola Giunti and Dr. Suran Nethisinghe
This research consists of : 1. Establishing baseline measurements for our mitochondrial and cytoskeletal phenotypic readouts on the Perkin Elmer Opera Phenix High Content Screening platform. We will use tetramethylrhodamine methyl ester perchlorate (TMRM, a cationic...
Therapeutic Approaches for ARSACS- Dr. Benoit Gentil and Dr. Heather Durham
The current proposal proposes to capitalize on our discoveries and to move forward in two directions. First, pursue the protein/gene replacement approach until it produces a preclinical proof of concept that includes a translatable delivery method. Second, assess the...
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...
Therapeutic Approaches for ARSACS- Dr. Benoit Gentil and Dr. Heather Durham
The current proposal proposes to capitalize on our discoveries and to move forward in two directions. First, pursue the protein/gene replacement approach until it produces a preclinical proof of concept that includes a translatable delivery method. Second, assess the...
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...
ARSACS research project gets CIHR funding
Good news! The ARSACS research project "A comprehensive study of the natural history of ARSACS: An essential step towards clinical trial readiness and evidence-based interventions". was selected by the Canadian Institutes of Health Research (CIHR)and gets funding for...
IRSC finance un projet de recherche ARSACS
Bonnes nouvelles! Le projet de recherche ARSACS "A comprehensive study of the natural history of ARSACS: An essential step towards clinical trial readiness and evidence-based interventions". a été sélectionné par les Instituts de recherche en santé du Canada et...
First study on speech and swallowing in ARSACS
First in-depth study on the characteristics of speech and swallowing in ARSACS, highlighting the impact of these deficits for ARSACS. This research is conducted by Dr. Vogel and Dr. Synofzik from the Centre for Neurology and Hertie-Institute for Clinical Brain...
Première étude sur le langage et la déglutition reliée à l’ARSACS
Première étude approfondie sur les caractéristiques du langage et de la déglutition reliées à l'ARSACS, mettant en évidence l'impact de ces déficiences sur les patients ARSACS. Cette recherche est menée par le Dr Vogel et le Dr Synofzik du Centre de neurologie et...
Invitation to the 5th ARSACS Symposium
Fifth International Symposium on ARSACS on October 31-November 1,2018 in Montreal. Special Invitation from Dr. Brais. Website Registration by October 1st.
Invitation au 5ième symposium sur l’ARSACS
5ième symposium international sur l'ARSACS du 31 octobre au 1er novembre à Montréal. Invitation spéciale de Dr Brais. Date limite d'inscription: 1er octobre. Inscription
Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS
Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS – Dr. Anne McKinney, Dr. Alanna Watt. Published in The Journal of Physiology..
ARSACS project gets grant from Italian Ministry of Health
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: Summary of the Project: "Autosomal recessive spastic-ataxia of...
Le ministère de la santé de l’Italie finance un projet ARSACS .
Le ministère de la santé de l’Italie accorde du finacement pour le projet « Insight into new therapeutic preclinical strategies in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay type » présenté par: Résumé du projet : « Autosomal recessive spastic-ataxia of...
“Together to try to slow down the disorder” Journal de Québec
"By officially grouping all ARSACS patients by age, sex, and especially geographic location, the foundation believes that large companies like Pfizer or Bayer will be more inclined to test new drugs." . Article by Pierre-Alexandre Maltais, Journal de Québec ( French...
“En croisade pour tenter de ralentir leur maladie” Journal de Québec
"En regroupant de manière officielle tous les patients porteurs de la maladie connus, par catégorie d’âge, de sexe, mais surtout par emplacement géographique, la fondation croit que les grandes compagnies comme Pfizer ou Bayer seront plus enclines à tester de nouveaux...
DEVELOPMENT OF MOLECULES THAT REVERSE THE MOLECULAR PHENOTYPE OF ARSACS
The IRIC HTS platform completed a screen of 16 000 molecules on a cell line engineered by Dr Brais’ team showing the characteristic vimentin bundling of ARSACS. This led to the identification of a set of potential candidate compounds, of which the two most promising...
DÉVELOPPEMENT DE MOLÉCULES QUI CORRIGENT LE PHÉNOTYPE MOLÉCULAIRE DE l’ARSACS
La plateforme de criblage à haut débit de l’IRIC a complété un criblage de 16 000 molécules sur une lignée cellulaire conçue par l'équipe du Dr Brais montrant des cages de vimentine anormales caractéristique du phénotype cellulaire de l’ARSACS. Cela a conduit à...
Invitation to the Diner des Producteurs
The Ataxia Charlevoix-Saguenay cordially invites you to "Le Diner des Producteurs" on November 1, 2018. Reserve you table now .
Invitation au Diner des Producteurs
La Fondation de l'Ataxie Charlevoix-Saguenay vous invite au "Diner des Producteurs" qui aura lieu le 1er novembre 2018. Réservez votre table maintenant .
Club Richelieu supports ARSACS research
Many thanks to the Club Richelieu for supporting the ARSACS research. On behalf of the Foundation, Mrs Nicole Fortin, a mother of a child affected by ARSACS and a volunteer at the Foundation, accepted a cheque of $1000 presented by Mr. Jean-François Dallaire,...