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.
Great opportunity to do ARSACS research in Italy
The Organizzazione di volontariato (ODV) is offering a seed grant of 50 000€ to finance research on ARSACS in partnership with the Fondazione Telethon . This opportunity is for researchers in Italy. However, a project involving an international collaboration would...
Recherche sur l’ARSACS publiée
La recherche des Dres Alanna Watt et Anne Mckinney "Molecular identity and location influence Purkinje cell vulnerability in ARSACS mice" a été publiée dans le Frontiers Journal. Seulement le résumé est disponible à ce stade-ci; le manuscrit sera bientôt en ligne en...
ARSACS research published in Frontiers Journal
The research by Drs Alanna Watt and Anne Mckinney "Molecular identity and location influence Purkinje cell vulnerability in ARSACS mice" has been published in the Frontiers Journal. At this time, only the abstract is available. The manuscript will be on line shortly....
$735,000 allocated to 9 ARSACS research projects in 2021-2022
The Foundation is pleased to announce that 9 research projects will be funded for a total of $735,000 in order to continue ARSACS research. The projects were selected based on their scientific value. It is very encouraging to see the collaboration and the sharing of...
9 projets reçoivent 735 000$ pour la recherche sur l’ARSACS en 2021-2022
La Fondation est fière d'annoncer qu'elle financera 9 projets de recherche totalisant un investissement de 735 000 $ pour la recherche sur l'ARSACS. Les projets ont été choisis selon leur valeur scientifique. Il est très encourageant de voir la collaboration et le...
“Is ARSACS a Tauopathy?” – Dr. Paul Chapple
This is the continuation of the project. More specific details to come. As an indication of the research, following is the description of last year work. Currently we are looking carefully at sacsin’s interaction with cytoskeletal proteins and...
“Charting the neurodevelopmental stage of ARSACS (NeurodevARSACS): A cross-species longitudinal characterization of the early molecular changes in the brain, CSF and blood”- Drs Justin Wolter, Matthis Synofzik and David Mengel
It is well established in neurodegenerative diseases that early therapeutic intervention - ideally before neurodegenerative cascades begin to breakdown neuronal function - is key to the success of disease-modifying therapies. Yet we do not understand the early...
“Charting the neurodevelopmental stage of ARSACS (NeurodevARSACS): A cross-species longitudinal characterization of the early molecular changes in the brain, CSF and blood” – Drs. Justin Wolter, Matthis Synofzik & David Mengel
It is well established in neurodegenerative diseases that early therapeutic intervention - ideally before neurodegenerative cascades begin to breakdown neuronal function - is key to the success of disease-modifying therapies. Yet we do not understand the early...
“Exploring the role of genetic and epigenetic modifiers in modifiers in ARSACS” – Dr. Daniele Galatolo
The overall aim of this research is to identify the potential co-occurrence of genomic variants beyond mutations in the SACS gene, and the epigenetic effects that might explain the different phenotype severity existing among ARSACS patients. Grant : $52,000...
“Elucidating mechanisms underlying motor coordination rescue in a mouse model of ARSACS” – Dr. Alanna Watt and Dr. Anne McKinney
One of the hallmark features of ARSACS is dysfunction and eventual death of Purkinje cells in the cerebellum, which contributes to ataxia. Strikingly, not all Purkinje cells become ill and die: rather, there are specific patterns of vulnerability and resilience to...
“Therapeutic Approaches for ARSACS”- Dr. Benoit Gentil and Dr. Heather Durham
ARSACS is characterised by the lack of sacsin expression and the formation of intermediate filaments bundles in neurons and fibroblasts derived from skin biopsies. Our strategy over the last years has been aimed at developing a replacement therapy, by peptide...
“Unravelling defective Purkinje cell-postsynaptic signalling in ARSACS” – Dr. Francesca Maltecca
We discovered that sacsin specifically localizes at the post-synaptic density of the cerebellum, where it controls key proteins involved in synapse organization and trans-synaptic signaling, required for tuning the firing properties of Purkinje cells. The project aims...
“Structural Determination and Super Resolution Imaging of Sacsin” – Dr. Walid Houry
The SACS protein, whose mutation results in ARSACS, is among the largest proteins in human cells (4579 residues), which hindered the determination of its structure and made basic biochemical experiments problematic. In the proposed project, we aim to use novel tagging...
“Preclinical studies in the Sacs KO mouse model of ARSACS” – Dr. Stefan Strack
The Strack team at the University of Iowa plans to continue with preclinical studies to prevent or reverse ARSACS symptoms in the SACS knock-out mouse model. Specifically, they are hoping to improve mitochondrial function via gene therapy and electromagnetic fields....
“Évaluer l’efficacité d’un programme de réadaptation à domicile visant l’amélioration des atteintes motrices, de l’équilibre, de la mobilité, des chutes et des activités courantes chez les personnes atteintes d’ARSACS” – Dre Elise Duchesne
L’ataxie récessive spastique de Charlevoix-Saguenay (ARSACS) est une maladie incurable caractérisée par plusieurs déficiences motrices progressives apparaissant dès l’enfance. Bien que les atteintes soient majeures, entraînant de grandes difficultés à marcher et un...
“Unravelling defective Purkinje cell-postsynaptic signalling in ARSACS” – Dr. Francesca Maltecca
We discovered that sacsin specifically localizes at the post-synaptic density of the cerebellum, where it controls key proteins involved in synapse organization and trans-synaptic signaling, required for tuning the firing properties of Purkinje cells. The project aims...
“Structural Determination and Super Resolution Imaging of Sacsin” – Dr. Walid Houry
The SACS protein, whose mutation results in ARSACS, is among the largest proteins in human cells (4579 residues), which hindered the determination of its structure and made basic biochemical experiments problematic. In the proposed project, we aim to use novel tagging...
“Preclinical studies in the Sacs KO mouse model of ARSACS”- Dr. Stefan Strack
The Strack team at the University of Iowa plans to continue with preclinical studies to prevent or reverse ARSACS symptoms in the SACS knock-out mouse model. Specifically, they are hoping to improve mitochondrial function via gene therapy and electromagnetic fields....
“Évaluer l’efficacité d’un programme de réadaptation à domicile visant l’amélioration des atteintes motrices, de l’équilibre, de la mobilité, des chutes et des activités courantes chez les personnes atteintes d’ARSACS” – Dre Elise Duchesne
L’ataxie récessive spastique de Charlevoix-Saguenay (ARSACS) est une maladie incurable caractérisée par plusieurs déficiences motrices progressives apparaissant dès l’enfance. Bien que les atteintes soient majeures, entraînant de grandes difficultés à marcher...
“Is ARSACS a Tauopathy?”- Dr. Paul Chapple
This is the continuation of the project. More specific details to come. As an indication of the research, following is the description of last year work. Currently we are looking carefully at sacsin’s interaction with cytoskeletal proteins and...
“Exploring the role of genetic and epigenetic modifiers in modifiers in ARSACS” – Dr. Daniele Galatolo
The overall aim of this research is to identify the potential co-occurrence of genomic variants beyond mutations in the SACS gene and the epigenetic effects that might explain the different phenotype severity existing among ARSACS patients. Grant: $52,000 Duration :...
“Therapeutic Approaches for ARSACS”- Drs. Benoit Gentil and Heather Durham
ARSACS is characterised by the lack of sacsin expression and the formation of intermediate filaments bundles in neurons and fibroblasts derived from skin biopsies. Our strategy over the last years has been aimed at developing a replacement therapy, by peptide and/or...
“Elucidating mechanisms underlying motor coordination rescue in a mouse model of ARSACS” – Drs. Alanna Watt & Anne McKinney
One of the hallmark features of ARSACS is dysfunction and eventual death of Purkinje cells in the cerebellum, which contributes to ataxia. Strikingly, not all Purkinje cells become ill and die: rather, there are specific patterns of vulnerability and resilience to...
Invitation to Le Diner des Producteurs under the honorary presidency of Mr. Marc Bédard
The Ataxia Charlevoix-Saguenay Foundation cordially invites you to its annual fundraising "Le Diner des Producteurs" under the honorary presidency of Mr. Marc Bédard, President and founder of Lion Électrique. Reserve now.
Invitation au Diner des Producteurs sous la présidence d’honneur de M. Marc Bédard
La Fondation de l’Ataxie Charlevoix-Saguenay vous invite à son événement bénéfice annuel Le Diner des Producteurs, le jeudi 2 décembre 2021, sous la présidence d’honneur de Monsieur Marc Bédard, président et fondateur de Lion Électrique. Réservez...
Recherche sur la mobilité des marcheurs atteints de l’ARSACS publiée dans Orphanet Journal of Rare Diseases
La recherche du Dre Cynthia Gagnon et son équipe, "Functional mobility in walking adult population with ataxia of Charlevoix‑Saguenay", publiée dans Orphanet Journal of Rare Diseases. La première étude à se concentrer sur les marcheurs adultes atteints de l'ARSACS....
Research on mobility in walking adults with ARSACS published in Orphanet Journal of Rare Diseases
Research done by Dr C. Gagnon and her team published in Orphanet Journal of Rare Diseases. "Functional mobility in walking adult population with ataxia Charlevoix-Saguenay", the first study to focus on adult walkers with ARSACS, was funded in part by the Foundation.
Functional mobility in walking adult population with ataxia Charlevoix-Saguenay
Functional mobility in walking adult population with ataxia Charlevoix-Saguenay – Dr. Cynthia Gagnon. Published in Orphanet Journal of Rare Diseases..
Recherche du Dre Maltecca publiée dans Neurology
La recherche financée par la Fondation et intitulée "Assessment of sacsin turnover in ARSACS patients: implications for molecular diagnosis and pathogenesis” a été réalisée par Fabiana Longo et l’équipe de Francesca Maltecca à Ospedale San Raffaele, Milan,...
Dr. Maltecca’s ARSACS research paper published in Neurology
The research, funded by the Foundation and entitled "Assessment of sacsin turnover in ARSACS patients: implications for molecular diagnosis and pathogenesis”, has been done by Fabiana Longo and the group headed by Francesca Maltecca at Ospedale San Raffaele, Milan,...
Assessment of sacsin turnover in ARSACS patients: implications for molecular diagnosis and pathogenesis
Assessment of sacsin turnover in ARSACS patients: implications for molecular diagnosis and pathogenesis – Dr. Francesca Maltecca. Research paper published in Neurology..
Invitation to the ARSACS International Symposium
Invitation to the 6th ARSACS International Symposium to be held on November 4th, 2021. Keynote speaker Dr. Schmahmann from the Massachusetts General Hospital. Half-day virtual conferences, free registration, opened to all. See Program. Please do not hesitate to...
Invitation au 6ième Symposium International sur l’ARSACS
Invitation au 6ième Symposium International sur l'ARSACS qui se tiendra le jeudi 4 novembre 2021. L’invité d’honneur Dr Jeremy Schmanhmann du Massachusetts General Hospital, Boston. Demi-journée de conférences en ligne, inscription gratuite, ouvert à tous. Programme....
The ataxia protein sacsin is required for integrin trafficking and synaptic organization
The ataxia protein sacsin is required for integrin trafficking and synaptic organization – . Article submitted for publication by ARSACS researchers..
ARSACS researchers’ article submitted for publication
"There is a tremendous amount of data that we have made publicly available, that we hope will be of great use to the community" Justin Wolter, ARSACS research team . "The ataxia protein sacsin is required for integrin trafficking and synaptic organization"
Article sur l’ARSACS soumis pour publication
« Nous avons mis une grande quantité de données à la disposition du public et qui, nous l’espérons, seront d’une grande utilité pour la communauté scientifique. »Justin Wolter, équipe de recherche ARSACS . “The ataxia protein sacsin is required for integrin...
ARSACS incluse dans le programme d’allocations de compassion aux États-Unis
Mme Kilolo Kijakazi, commissaire par intérim de l’Administration de la sécurité sociale des États-Unis, a annoncé le 16 août que le programme d’allocations de compassion ("Compassionnate Allowances Program") sera élargi pour inclure l'ARSACS. Le programme identifie...
ARSACS to be part of the Compassionate Allowances Program in the USA
On August 16, 2021, Mrs Kilolo Kijakazi, acting commissioner of the United States Social Security Administration, announced that the Compassionate Allowances Program will be expanded to included ARSACS. This applies to American citizens only. Press release.
“Trying a drug that was not initially designed for ARSACS but such drug could alleviate the symptoms and therefore improve, in some ways, the life of individuals. This is where I am heading to”.
Sonia Gobeil, parent of 2 children with ARSACS and co-founder of the Foundation, shares her experience and hopes in an interview with Maxine Derksen, Hope for Ataxia – Raising Ataxia Awareness Globally
“Essayer un médicament qui n’a pas été initialement conçu pour l’ARSACS, mais qui pourrait soulager les symptômes. C’est vers cela que je me dirige”.
Sonia Gobeil, parent de 2 enfants atteints de l'ARSACS et cofondatrice de la Fondation, partage son expérience ainsi que ses espoirs dans le cadre d'une entrevue avec Maxine Derksen, Hope for Ataxia – Raising Ataxia Awareness Globally ( en version anglaise...
Radio station 92.5 ckaj is part of the efforts – Donation of $35,000. Thank you!
Mr. Robert Banford, General Manager of the 92.5 ckaj station in Saguenay, made an important donation of $35,000 to the Foundation to continue research and to support Mr. Nicolas Claveau in his fundraising initiatives ands sporting achievements in particular that of...
La station de radio 92,5 ckaj participe aux efforts! – Don de 35 000$. Merci.
En présence de M. Robert Banford, directeur-général de la station 92,5 ckaj au Saguenay, un important don de 35 000$ a été remis à la Fondation pour poursuivre la recherche et pour soutenir M. Nicolas Claveau dans ses levées de fonds pour l'ARSACS et ses...
Article sur l’ARSACS publié par des chercheurs en Corée
L'article Ciliary Ganglioplegic Migraine Associated with SACS Mutation publié en février 2021 dans le Journal of Ophthalmology and Visual Sciences.
ARSACS Article by researchers in Korea
"Ciliary Ganglioplegic Migraine Associated with SACS Mutation" case report published in February 2021 in the Journal of Ophthalmology and Visual Sciences.
Bienvenue sur le nouveau site!
Invitation à visiter le nouveau site. Nous espérons qu’il sera plus facile de naviguer et vous fournira les informations que vous recherchez.
Welcome to the new site!
Invitation to visit the new site. We hope that it will be easier to navigate where you need to go and will provide the information that you are looking for.
Canadian Society of Molecular Biosciences conference
Une conférence virtuelle aura lieu du 14 au 17 juin 2021. Cette conférence scientifique est pertinente pour l’ARSACS. Le thème est l’homéostasie des protéines, ou protéostasie, qui comprend les systèmes de production et de repliement des protéines, ainsi que la...
Canadian Society of Molecular Biosciences conference
A virtual conference to be held on June 14-17, 2021. This scientific conference has relevance to ARSACS. The theme is protein homeostasis, or proteostasis, which include the systems for production and folding of proteins, and the quality control repair and degradation...
Another way for ARSACS patients to stay connected via RareConnect
ARSACS community is now part of the RareConnect network. RareConnect is the online network of rare disease communities that brings together patients, families and groups. Through RareConnect, patients can communicate, share experiences and information in several...
Une autre façon pour les patients ARSACS de rester en contact via RareConnect
ARSACS fait désormais partie du réseau RareConnect. RareConnect est un réseau en ligne dédié aux communautés de maladie rare qui met en relation des patients, des familles et des groupes. Grâce à RareConnect, les patients peuvent communiquer, partager des expériences...
Invitation to the 6th International ARSACS Symposium- Free registration
From Charlevoix to the World... Invitation to all to the 6th International ARSACS Symposium on Thursday, November 4th, 2021. Keynote speaker Dr. Jeremy Schmahmann from the Massachusetts General Hospital. Half-day virtual conferences, free registration. Register now.
Invitation au 6ième Symposium International ARSACS- inscription gratuite
De Charlevoix à ailleurs dans le monde… Invitation à tous au 6ième Symposium International ARSACS le jeudi 4 novembre 2021. L’invité d’honneur Dr Jeremy Schmanhmann du Massachusetts General Hospital, Boston. Demi-journée de conférences en ligne, inscription gratuite....
Interview with Sonia Gobeil, cofounder of the ARSACS Foundation
Interview with Sonia Gobeil providing insights on the creation of the Foundation, engagement of research partners, the importance of the patient registry and support groups. Interview was done by Jenny Krahn, University of Calgary for the 2021 Canadian Society for...
Entrevue avec Sonia Gobeil, cofondatrice de la Fondation ARSACS
Entrevue avec Sonia Gobeil concernant la création de la Fondation, l’engagement des partenaires de recherche, l’importance du registre des patients ARSACS et des groupes de soutien. Entrevue faite avec Jenny Krahn de l’Université de Calgary dans le cadre de la...
ARSACS research results presented at the 31st International Symposium on ALS/MND
Dr. Gentil and Dr. Durham presented the results of their team's ARSACS research at the 31st International Symposium on ALS/MND. The research, funded by the Foundation, was the work of Afrooz Dabbaghizadeh and Alexandre Paré.31st International Symposium on ALS/MND-...
Recherche présentée au 31ième Symposium International sur ALS/MND
L’équipe du Dr Gentil et du Dre Durham a présenté lors du 31ième Symposium International sur ALS/MND les travaux de recherche sur l'ARSACS du Dr Afrooz Dabbaghizadeh et d’Alexandre Paré, projet de recherche financé par la Fondation. 31st International Symposium on...
Merci à tous ceux et celles qui ont célébré l’anniversaire de Sophie en aidant la recherche sur l’ARSACS
Thank you for celebrating Sophie’s birthday by supporting ARSACS research
Résumé d’un article du Dre Maltecca sur l’ARSACS
Dre Francesca Maltecca a soumis pour publication un article intitulé "Sacsin cotranslational degradation explains lack of genotype-phenotype correlation in autosomal recessive spastic ataxia of Charlevoix-Saguenay". Cet article est le fruit de ses travaux financés par...
Summary of an article on ARSACS by Dr. Maltecca
Dr. Francesca Maltecca has submitted a paper for publication entitled "Sacsin cotranslational degradation explains lack of genotype-phenotype correlation in autosomal recessive spastic ataxia of Charlevoix-Saguenay", a project that was co-financed by the foundation...
Friendly reminder : May 28, 2021 to submit your research project
Send us your ARSACS research proposal by Friday May 28, 2021. You could receive up to $100,000 for a period of one year with possibility of renewal for a second year. Application form and Appendix.
Date limite pour soumettre votre projet: le 28 mai, 2021
Faites nous parvenir votre projet de recherche sur l'ARSACS d'ici le vendredi 28 mai, 2021. Vous pourriez recevoir 100 000$ de financement pour une période d’un an avec possibilité de renouvellement pour une deuxième année. Formulaire et Annexe.
Save the date: November 4th, 2021
Save November 4th, 2021 for the 6th International ARSACS Symposium. The keynote speaker will be Dr. Jeremy Schmahmann from the Massachusetts General Hospital. Half-day virtual conferences, free registration, opened to all. Details to come.
Réservez la date : le 4 novembre, 2021
Réservez le 4 novembre 2021 pour le Symposium international ARSACS -6ième édition. L'invité d'honneur sera Dr Jeremy Schmanhmann, Massachusetts General Hospital, Boston. Demi-journée de conférences en ligne, inscription gratuite, invitation à tous. Détails à...
Krogan Lab from UCSF to conduct ARSACS research
The Foundation is funding an additional research project: “Discovery of new targets for therapeutic interventions in ARSACS disease” with Dr. Nevan Krogan, University of California San Francisco (UCSF). The one year project is funded in partnership with the UCSF...
Projet de recherche sur l’ARSACS au laboratoire Krogan de l’UCSF
“Discovery of new targets for therapeutic interventions in ARSACS disease” - Dr Nevan Krogan, Université de Californie San Francisco (UCSF). La Fondation finance le projet d'une durée d'un an en partenariat avec la Fondation de l'UCSF, Krogan Lab en l'honneur...
“Discovery of new targets for therapeutic interventions in ARSACS disease” – Dr Nevan Krogan
Vidéo décrivant le projet du Dr Nevan Krogan “Discovery of new targets for therapeutic interventions in ARSACS disease” "The development of novel treatments, through the discovery of new drugs or the repurposing of FDA-approved drugs and INDs, requires a detailed...
“Discovery of new targets for therapeutic interventions in ARSACS disease”- Dr. Nevan Krogan
Video describing Dr.Nevan Krogan's project “Discovery of new targets for therapeutic interventions in ARSACS disease” "The development of novel treatments, through the discovery of new drugs or the repurposing of FDA-approved drugs and INDs, requires a detailed...
“Discovery of new targets for therapeutic interventions in ARSACS disease” – Dr Nevan Krogan
Vidéo décrivant le projet du Dr Nevan Krogan “Discovery of new targets for therapeutic interventions in ARSACS disease” "The development of novel treatments, through the discovery of new drugs or the repurposing of FDA-approved drugs and INDs, requires a detailed...
Join us #tuesdaytakeoverday – March 30th
Action for Ally will takeover Rare Revolution Magazine's social media to create awareness about ARSACS and find a treatment. See you on #tuesdaytakeoverday, March 30th.
Rendez-vous le 30 mars: #tuesdaytakeoverday
"Action for Ally" sur tous les réseaux sociaux de Rare Revolution Magazine pour faire connaître l'ARSACS et ultimement développer un traitement. On se rencontre tous sur #tuesdaytakeoverday, le 30 mars.
Nouveau membre au Conseil- Mme Betsy Trainor
La Fondation de l'Ataxie Charlevoix-Saguenay est très heureuse d’annoncer l’arrivée d'un nouveau membre à son conseil d’administration- Mme Betsy Trainor. Avocate de formation, Mme Trainor est présentement chez Fibertek Inc aux E.U. De plus, elle est une auteure qui a...
A new member on the Board of Directors – Mrs. Betsy Trainor
The Ataxia Charlevoix-Saguenay Foundation is very pleased to announce that Mrs. Betsy Trainor has joined its Board of Directors. Mrs Trainor is a corporate attorney working for Fibertek, a high-tech company in the U.S. Furthermore, she is an author who has published...
You are not alone …. ARSACS patients all around the world
Have you ever wondered where ARSACS can be found? Even though associated initially with a region in Quebec, ARSACS can be found around the world. Based on the number of patients registered in the International ARSACS Patient Registry, we have created that cool ARSACS...
Vous n’êtes pas seul …. Patients ARSACS dans le monde entier
Vous êtes-vous déjà demandé où se trouve l’ARSACS? Même s’il est associé au départ à une région du Québec, l’ARSACS se retrouve partout dans le monde. Basé sur le nombre de patients inscrits au Registre international des patients ARSACS, nous avons créé cette CARTE...
Launch “Action for Ally Merchandise ” an ARSACS fundraising initiative
In 2020, Ally was diagnosed with ARSACS. Her family has launched Action For Ally Merchandise to raise funds for research. All proceeds will go to support the Krogan Lab at the University of California San Francisco to conduct research of the mutated gene. Please Join...
“Action For Ally Merchandise”, initiative de levée de fonds pour l’ARSACS
En 2020, Ally a reçu un diagnostic d’ARSACS. Sa famille a lancé "Action For Ally Merchandise" pour recueillir des fonds pour la recherche sur l'ARSACS. Tous les profits iront au laboratoire Krogan de l’Université de Californie à San Francisco pour mener des recherches...
Article sur l’ARSACS publié dans IScience
IScience a publié un Article sur l'ARSACS en février 2021. Dr Mohan Babu, avec l'appui de la Fondation, a participé à cette recherche.
ARSACS article published in IScience
IScience has published an Article on ARSACS in February 2021. Dr. Mohan Babu, supported by the ARSACS Foundation, is one of the researchers who contributed to the research.
Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers
Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers – Dr. Paola Giunti. Published in Research Article in March 2021..
Réunion du Conseil: le jeudi 18 mars, 2021
Une réunion virtuelle du Conseil d'administration de la Fondation aura lieu le jeudi 18 mars, 2021.
Board meeting on Thursday March 18, 2021
A virtual meeting of the Foundation's Board of Directors will be held on Thursday March 18, 2021.
Le 28 février: Journée internationale des maladies rares
La première journée internationale des maladies rares a été célébrée en 2008 le 29 février, une daterare qui se produit seulement tous les 4 ans. Depuis,la journée internationale des maladies rares a lieu chaque année le dernier jour de février. Cette année, plusieurs...
International Rare Disease Day : February 28th
The first international Rare Disease Day was celebrated in 2008 on February 29th, a rare date which occurs only every 4 years. Since then, the international Rare Disease Day has been held every year on the last day of February. This year, several online activities...
From fuzziness to precision medicine: on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease
From fuzziness to precision medicine: on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease – Dr. Mohan Babu. Article published in IScience..
Interested in doing research on ARSACS? Send us your proposal by May 28,2021
As part of it's mission, the Foundation is funding every year several research projects on ARSACS. If you are interested in contributing with a team of researchers to advance the understanding of the disease and lead to a treatment, please send us your proposal. Your...
La recherche sur l’ARSACS vous intéresse? Faites-nous parvenir votre projet d’ici le 28 mai 2021
Dans le cadre de sa mission, la Fondation finance chaque année plusieurs projets de recherche sur l’ARSACS. Si vous êtes intéressé à faire progresser la compréhension de la maladie et à développer un traitement, faites- nous parvenir votre projet. Vous pourriez...
Info sheet on muscles co-contraction in ARSACS patients
As part of the Rare Diseases Day (February 25) organized by GRIMM, Dr. Olivier Audet will present his research findings on muscle co-contractions in ARSACS patients. Infographie (in French only).
Infographie sur les co-contractions musculaires chez les patients ARSACS
Dans le cadre de la journée des maladies rares organisée par le GRIMN (25 février), Dr Olivier Audet présentera les résultats de recherche portant sur les co-contractions musculaires chez les patients ARSACS. Infographie.
Video of Dr. Hébert’s conference on abnormal muscles co-contraction in ARSACS patients
In case you missed it, this is a opportunity to view the virtual conference held on January 21 by Dr. Luc Hébert and Olivier Audet on the abnormal muscles co-contraction in ARSACS patients and possible avenues for interventions. Virtual conference. ( Text of...
Vidéo de la conférence du Dr Luc Hébert sur la co-contraction des muscles chez les patients ARSACS
Vous pouvez maintenant revoir la conférence virtuelle du Dr Luc Hébert et Olivier Audet sur la co-contraction anormale des muscles chez les patients ARSACS et les pistes d’intervention possibles. Conférence virtuelle du 20 janvier 2021. (Texte de la présentation en...
The Foundation, a partner in a project funded as part of the European Joint Program Rare Diseases
The Foundation is pleased to announce that it will be representing the ARSACS patients on the research project "Designing a toolbox of paradigmatic treatments for a targeted molecular medicine approach to autosomal-recessive ataxias". The project has received funding...
La Fondation, partenaire d’un projet financé dans le cadre du programme commun européen des maladies rares
La Fondation est heureuse d’annoncer qu’elle représentera les patients de l’ARSACS dans le cadre du projet de recherche “Designing a toolbox of paradigmatic treatments for a targeted molecular medicine approach to autosomal-recessive ataxias” . Le projet a reçu des...
Ciliary Ganglioplegic Migraine Associated with SACS Mutation
Ciliary Ganglioplegic Migraine Associated with SACS Mutation – . Published in the Journal of Ophthalmology and Visual Sciences..
Celebrating Maryse’s birthday by giving to ARSCS research
Thank you to the donors who celebrated Maryse's birthday by supporting ARSACS research!
Une collecte de fonds pour célébrer l’anniversaire de Maryse
Merci à tous les donateurs qui ont célébré l'anniversaire de Maryse en faisant un don pour la recherche sur l'ARSACS !
Friendly reminder : Virtual conference with Dr. Hébert on Thursday January 21 at 1:30pm
See Invitation for the Zoom link to the virtual free conference “Abnormal muscle co-contraction in the lower limbs: a factor limiting the mobility of patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)” on Thursday, January 21 at...
Rappel : Conférence virtuelle avec Dr Luc Hébert le mercredi 20 janvier à 13h30
Voir Invitation pour le lien zoom pour la conférence “La co-contraction anormale des muscles aux membres inférieurs: un facteur limitant la mobilité des patients atteints de l’ARSACS” aujourd'hui le 20 janvier à 13h30.