Research 2026-2027

A new version of the ARSACS reference article in the GeneReviews is now available.

The Foundation is proud to announce that it will continue to work with the Canadian Institutes of Health Research and the European Union as part of the European Joint Programme on Rare Diseases 2020. The Foundation will fund $225,000 over a 3-year period for projects...

A great success ! $1.4 million net raised for research for Ataxia of Charlevoix-Saguenay at the 13th edition of the Diner des Producteurs . 357 guests attended the annual fundraising event held in Montreal on November 7, 2019. "On behalf of the persons affected with...

Now you have the option of doing your ARSACS donation on line. An easy, simple and secure way to support the ARSACS research. Help us finding a treatment, Donate.

"Is SARM1 a therapeutic target for ARSACS?" another research project funded by the Foundation this year. Dr. Thomas Schwarz is at the Dept of Neurobiology at the Harvard Medical School in Boston.

The Ataxia Charlevoix-Saguenay Foundation is pleased to announce that it will finance Dr. Walid Houry 's ARSACS research project "Towards the Structural Determination of Sascsin" for a 2 year period. Dr. Houry is from the University of Toronto.

On the occasion of World Ataxia Day on  September 25, the ARSACS Organizzatione Di VoLontariato (ARSACS ODV) launched a fundraising campaign in Europe to help finance ARSACS research projects.   The organisation of volunteers, created in December 2018 in...

The Ataxia Charlevoix-Saguenay Foundation has received several innovative research proposals again this year. The Foundation would like to thank the applicants for their interest in the Ataxia Charlevoix-Saguenay and for the high quality of their submissions. 8 major...

Both ARSACS transgenic mouse models, the Sacs Knock Out mouse (# 033221) and the Sacs Knock In R272C mouse (# 033385), are now available for sell on the Jackson Laboratory website www.jax.org. Thanks to the financial support of the Ataxia Charlevoix-Saguenay...

Over the years, a greater collaboration has developed among ARSACS researchers. See a representation of the network of collaboration produced by Mathieu Blais.

As part of its going research program, the Foundation is pleased to announce that it will fund 12 research projects in 2019-2020. Details to come .

The Ataxia Charlevoix-Saguenay Foundation cordially invites you to its annual fundraising Le Diner des Producteurs (13th edition) under the honorary presidency of Mr. Jacques Foisy, Chairman of the Board and Managing Partner, Novacap. Invitation.

On June 11th, thanks to Manon Valiquette, Sonia Gobeil representing the Foundation had the pleasure of visiting the Institute for Research in Immunology and Cancer (IRCI) in Montreal and discovering extraordinary people who are very passionate about their work. Their...

The acronym "ARSACS" enters the life of Susanna de Luca and Paolo Arrigoni when their young child was diagnosed with ARSACS. Paolo joined the Board of Directors of the Ataxia Charlevoix-Saguenay Foundation in 2018 and, after having participated in the international...

If you are interested in doing research on ARSACS, please  send us your proposal by  Friday May 24,2019. A maximum of $100,000 for a period of one year with possibility of renewal for a second yearApplication and Appendix

On April 25th in Quebec City, Sonia Gobeil had the pleasure of meeting Dr. Esther Becker (Oxford University) and attending her conference on the cerebellum entitled "New Insights into Cerebellar Disorders". Summary.

“Speech treatment improves dysarthria in multisystemic ataxia: a raterblinded, controlled pilot-study in ARSACS” research study done by Dr. Synofzik and his research team to be published in the Journal of Neurology. To learn more about the study, interested readers...

Article will be published in the Journal of the Neurological Sciences in May, 2019. The study concludes that adults with ARSACS may experience many other clinical manifestations than the most commonly described.   See Article.

EMG data of 6 muscles from 35 ARSACS patients were obtained as part of Dr. Luc J. Hébert's ARSACS research project. The analysis of these EMG data will help to better understand the problem of spasticity in ARSACS patients and could eventually open the door to new...

The University of North Carolina (UNC) Catalyst for Rare Diseases, funded in 2016, was established as a precompetitive open research group with a mission to understand the functional phenotic manifestations of genetic mutations. This article describes the initial...

Invitation to join us at the 13th edition of the Diner des Producteurs, major annual fundraising event for the Ataxia Charlevoix-Saguenay Foundation. Discover the fine cuisine prepared by guest chef Pierre Gagnaire 3 Michelin stars, wines from La Maison E. Guigal. You...

Dr. Alanna Watt talks about her lab's research in understanding the cerebellum and the cellular changes that contribute to ARSACS in order to develop therapeutics. Presentation.

The research of Dr. Roxanne Larivière and her team supports that Sacs missense mutation largely leads to loss of Sacsin fucntion. SacsR272C missense homozygous mice develop an ataxia phenotype published in the Molecular Brain.

The next meeting of the Board of the Ataxia Charlevoix-Saguenay Foundation will be held in Montreal on Wednesday June 5,2019.

Dr. Chapple from Queen Mary University of London provides an overview of his ARSACS research.

In addition to evaluating a post-symptomatic treatment on Sacs mice with an identified drug, Dr. Maltecca is also conducting a pre-symptomatic treatment to evaluate if such a drug can stop the neurodegeneration associated with ARSACS. Such results will be available at...

Dr. Anne McKinney from McGill University describes her ARSACS research project focusing on how the cells of ARSACS patients communicate together and how some drugs could have an impact on the cells.

Dr. Slaven Erceg's article "Investigating ARSACS: models for understanding cerebellar degeneration" has been published in the Neuropathology and Applied Neurobiology journal last January. Dr. Erceg is at the Stem Cells Therapies in Neurodegenerative Diseases Lab,...

Dre Cynthia Gagnon presents some preventive interventions and pratical tips that could be helpful if you are affected by ARSACS. This is a general overview and you should discuss with your neurologist or medical team to ensure that some of the recommendations are...

As part of the video serie of ARSACS research projects, Dr. Suran Nethsisinghe from UCL Queen Square Institute of Neurology in London provides a short overview of his research project using skin cells.

You are invited to a conference on ARSACS research done in the Saguenay/Lac St-Jean region. The conference will take place on February 28, coincident with the International Rare Disease Day, at the salle polyvalente of the library in Jonquière, Quebec. Dr. Cynthia...

This is a special invitation to submit your research proposal. Each year, the Foundation offers annual research fellowships that will advance the understanding of the disease and lead to a treatment. A maximum of $100,000 for a period of one year with possibility of...

Dr. Cynthia Gagnon's research project is focusing on the progression of the disease which is a key asset when planning a clinical trial. As well, her team is defining the best ways to assess ARSACS impairments and developing clinical practice guidelines for physicians...

When new treatments are tested, it is important for researchers to have some measurement tools to evaluate their effects according to the perception of the patients affected. Among these tools, there are questionnaires that measure the impact of treatment according to...

Dr. Brais provides a description of the ARSACS research conducted in his laboratory and the important collaboration between all the ARSACS researchers.

As part of the series of ARSACS research project presentations, Dr. Ramy Malty who is working with Dr. Mohan Babu from the University of Regina provides a description of their project and the use of a genome wide screening method for genetic interactions.

Some new articles have been published recently on ARSACS. See latest updated list of publications.

Dr. Thomas Schwarz from the Boston Children' Hospital and Harvard Medical School is describing in a short video the role of neurons and defect mitochondria in ARSACS.

Save the date Thursday November 7, 2019 for the Diner des Producteurs. A major fundraising event in order to continue ARSACS research and to develop a treatment.

An international network of ARSACS centers is conducting a multi-center study to collect natural history data and biomarkers, essential data to initiate treatment for ARSACS. We encourage you in joining in these studies and thus supporting the preparation of future...

Research project presentation by Dr. Fabiana Longo who is working with Dr. Maltecca.

At first, this degenerative disease was associated with a specific region Charlevoix-Saguenay. More and more, ARSACS is found in many different ethnic groups in the world. Article published in Research Gate Publication.