by ARSACS | Dec 22, 2021 | Latest News
Latest news release from McGill University, Montreal- Researchers at McGill University, lead by Drs. Alanna Watt and Anne Mckinney, have made an important step forward in understanding the cause of ARSACS. “We have shown really clearly that zebrin-negative cells in...
by ARSACS | Dec 21, 2021 | Latest News
The Ataxia Charlevoix-Saguenay Foundation is pleased to announce that Dr. Massimo Pandolfo has joined its board of directors. Dr. Pandolfo is Professor of Neurology at McGill University in Montreal since January 2021. Prior, he was Professor of neurology and Director...
by ARSACS | Dec 18, 2021 | Latest News
Research of Drs. Nethisinghe and Giunti, “Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS”, was published in the International Journal of Molecular Sciences in October 2021. This research was made possible thanks to the Foundation in...
by ARSACS | Dec 16, 2021 | Latest News
Me Jean Groleau, co-founder and president of the Fondation de l’Ataxie Charlevoix-Saguenay, is proud to join Catalis to represent the needs and challenges of people with rare diseases. Launched in 2017, CATALIS’ mandate is, among other things, to...
by ARSACS | Dec 7, 2021 | Latest News
The Foundation’s fundraising campaign is underway until the end of December. We need your support to pursue our mission to finance ARSACS research. Together we can work toward the goal of making lives better for individuals affected by ARSACS. Research needs...
by ARSACS | Dec 6, 2021 | Latest News, Past Conferences
More than 200 participants from different backgrounds (academic, pharmaceutical and people with ARSACS) participated in the Symposium. An international network of ARSACS researchers who shared their research progress in a climate of collaboration and exchange of...
by ARSACS | Nov 29, 2021 | Latest News
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...
by ARSACS | Nov 18, 2021 | Latest News
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...
by ARSACS | Oct 31, 2021 | Latest News
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...
by ARSACS | Oct 29, 2021 | Current Research
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...
by ARSACS | Oct 29, 2021 | Current Research
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...
by ARSACS | Oct 29, 2021 | Current Research
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...
by ARSACS | Oct 29, 2021 | Current Research
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....
by ARSACS | Oct 29, 2021 | Current Research
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...
by ARSACS | Oct 29, 2021 | Current Research
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...
by ARSACS | Oct 29, 2021 | Current Research
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 :...
by ARSACS | Oct 29, 2021 | Current Research
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...
by ARSACS | Oct 29, 2021 | Current Research
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...
by ARSACS | Oct 28, 2021 | Latest News
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.
by ARSACS | Oct 21, 2021 | Latest News
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...
