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 share this invitation with anyone who could be interested in the latest ARSACS research. Register now .
“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”
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
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 crossing Canada in a wheelchair to create awareness of the disease.
From left to right: Ms. Sonia Gobeil, co-founder of the Foundation, Mr. Robert Banford, Executive Director of 92.5, Mr. Nicolas Claveau, volunteer and sportsman and Ms. Claudine Tremblay of station 92.5.
“Ciliary Ganglioplegic Migraine Associated with SACS Mutation” case report published in February 2021 in the Journal of Ophthalmology and Visual Sciences.
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.
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.
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 Molecular Biosciences conference to be held June 14-17,2021.
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- Theme 03 – In-vitro Experimental Models
Abstract 1 : Effects of sacsin domains, a protein mutated in a neurodegenerative disorder, on neurofilament assembly.
Abstract 2 : Role of chaperone and acetylation levels and therapeutic potential of HDAC inhibitors for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
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 few years ago.
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.
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 Foundation, Krogan Lab in Honor of Allison Trainor. “To rapidly identify new protein targets for therapeutic interventions for ARSACS disease, we will apply unbiased mass spectrometry-based proteomics and innovative computational approaches to globally uncover the cellular signaling pathways and kinases affected by deletion of the SACS”. Read more.
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.
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 several children’ books. She lives outside Washington D.C. With extensive experience in different fields, Mrs. Trainor is a great addition to the Foundation’s team.
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 MAP providing interesting statistics. “Historical cohort ” is defined as the number of ARSACS cases that have been reported in the scientific literature. For example for Europe, the registry would be in line with the cohort where for Canada/US the registry would be over represented.
If you are an ARSACS patient and did not have an opportunity to register, we encourage you to do it. It is easy and simple. Visit International ARSACS Patient Registry
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 the Fight & Change a Life!
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.
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 will be held to raise public awareness of rare diseases. More than 300 million people worldwide are living with a rare disease.
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 project could receive up to $100,000 for a period of one year with possibility of renewal for a second year. Application form and Appendix.
Deadline: Friday May 28,2021.
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).
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 presentation in French only)
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 from the European Union’s Horizon 2020 research and innovation programme under the EJP RD COFUND-EJP N° 825575. The specific objective is the pre-clinical-research to develop effective therapies for rare diseases. It aims at designing and testing new complementary treatment strategies, including both repurposed and newly identified molecules, as well as gene therapies in two exemplary multisystemic flagship ARCAS: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and COQ8A-ataxia (ARCA2). It is a 3 year project.
Thank you to the donors who celebrated Maryse’s birthday by supporting ARSACS research!
There is still an opportunity to complete the PROSPAX survey. The deadline has been extended to Sunday January 31, 2021. So please take five minutes of your time to have your voice heard and be well represented in the research. Thank you very much if you have already completed the survey. It is very appreciated!
Invitation to individuals affected with ARSACS, their caregivers and health professionals to a free online presentation on Thursday January 21, 2021, 1:30pm-2:30pm “Abnormal muscle co-contraction in the lower limbs: a factor limiting the mobility of patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)”. The research results and avenues for intervention will be presented by Dr. Hébert and Olivier Audet. See Invitation for the ZOOM link. The English conference will be recorded and posted at a later date.
“The importance of balancing Sacsin protein levels in ARSACS” – the article written by Dr. Ambika Tewari and edited by Larissa Nitschke was published in SCA Source.
Individuals affected by ARSACS can be found all around the world. Recently, an ARSACS case had been reported in Iran. Article published by Frontiers in Genetics in December 2020.
Un groupe de chercheurs sous la direction du Dr M Suraj Menon
Département de Neurologie, Government TD Medical College, Alappuzha
en Inde ont évalué un patient atteint de l’ARSACS dans le sud de l’Inde. Voir article (version anglaise seulement).
Article Docosahexaenoic acid in ARSACS: observations in 2 patients published in BMC Neurology. The article does not necessarily reflect the views and positions of the Foundation. It engages solely the author. The Foundation does not in any way guarantee the exactitude and reliability of the information contained in this publication. The Foundation is not responsible for the use that could be made with the information contained in this article. Finally, the Foundation is not to be held responsible for any damage caused directly or indirectly by this article or with the information that is contained.
Help us continue research on ARSACS. Every donation counts. Donate. Thank you and Happy Holidays!
The Ataxia Charlevoix-Saguenay Foundation is one of the 3 patient advocacy organisations participating in the PROgression chart of SPAstic ataXias (PROSPAX) research project. PROPSPAX, launched in September 2020, is a novel collaborative effort between several neurologists across Canada and Europe. Project description.
The PROSPAX survey provides an unique opportunity to have your voice heard by researchers, to make sure that the questions they are trying to answer are the ones that are important to you as a person living with the condition. The PROSPAX project will focus on two conditions – ARSACS and SPG7. However, this survey is open to anyone with any type of ataxia or hereditary spastic paraplegia (HSP). Please complete the survey (maximum 5 minutes) by January 15,2021. Click on PROSPAX SURVEY.
On behalf of the PROSPAX research team, the Ataxia Charlevoix-Saguenay Foundation thanks you in advance for participating in this survey and for your important contribution to this research project.
Thank you to the donors who celebrated Sharline’s birthday by giving to ARSACS research.
This year, the Diner des Producteurs, the major fundraising event for ARSACS research, did not take place due to the pandemic. The Foundation cannot resign itself to terminate medical research funding. Accordingly, the Foundation is launching today its 2020-2021 fundraising campaign with a $1.6 million objective to fund high-potential research projects as well as a clinical trial of a repurposed drug. Your help is crucial for the continuation of the Foundation and its mission. Please donate . Thank you.
Dr. Jacques Michaud is the recipient of the prestigious Pediatric Academic Leadership Clinician Investigator Award 2020. Dr. Guy Rouleau has been appointed to the Order of Canada for his excellence in clinical care and research.
Dr. Rouleau and Dr. Michaud are members of the Foundation’s Board of Directors.
As part of its mission, the Foundation is pleased to fund Dr. Walid Houry’s ARSACS research project “Towards the Structural Determination of Sacsin”. This project is in addition to the other seven projects already funded for 2020-2021 .
Dr. Gentil’s virtual conference «La recherche de thérapies géniques et de complémentation dans le traitement de l’ARSACS » French session on Thursday Nov 19 at 1:30pm. Register now.
The next virtual meeting of the Foundation Board of Directors will be on Wednesday December 2, 2020.
Dr. Gentil’s virtual conference « Research on Gene and Replacement Therapies to Treat ARSACS». Register in advance.
As part of it mission to develop a treatment for ARSACS, the Foundation is pleased to announce the research projects to be funded in 2020-2021. Over $700K, including a $50K contribution from the Richardson Fund (University of Saskatchewan), will be allocated to these projects.
The Foundation would like to thank all the applicants for their interest in the Ataxia Charlevoix-Saguenay and for the high quality of their research submissions.
An excellent source of information on ARSACS published in the GeneReviews.
GeneReviews is an online database containing peer-reviewed articles that describe specific diseases. It was established in 1997 by the University of Washington in the US.
“It is becoming increasingly clear that in patients with ARSACS, the presence of inappropriate knee cocontractions is a major factor in mobility restrictions.”
According to Dr. Luc J. Hébert’s interim report , “it is becoming increasingly clear that in patients with ARSACS, the presence of inappropriate knee cocontractions is a major factor in mobility restrictions.” Dr. Hébert is the researcher responsible for the project “Caractérisation des déficiences musculaires associées aux difficultés à la marche et aux transferts chez des personnes atteintes d’ARSACS ; de la cellule à la fonction” Note: The interim report is available in French only.
Article published in the Quotidien. Nicolas Claveau, affected by ARSACS , has the intention to go around the Lac St Jean on an adapted bike to support the ARSCS research. Good luck Nicolas !
The next meeting of the Foundation’s Board of directors will be held on Thursday June 4, 2020 ( via Zoom meeting ) .
Thank you to all of you who celebrated Louise’s birthday by contributing to ARSACS research. Each donation is key to continue research on ARSACS.
A personal thank you note from Katherine Samson et Steve Bourget for your contribution. ( French version only )
Congratulations and thank you to Katherine Samson and her team for this great success! $25,000 raised by selling 5,000 “Ça va bien aller” stickers. A special thank you to Mrs. Louise Lajoie, real estate agent at Remax Saguenay-Lac-Saint-Jean, who played a key role in this fundraising activity.
The Foundation, a financial partner with the Canadian Institutes of Health Research, is pleased to confirm that the “European Joint Programme on Rare Diseases 2020” (EJP-RD JTC2020) competition is moving on according to its original timelines even with the current COVID-19 pandemic.
Special thanks to the team: Katherine, Steve, Nadine, a real estate agent from Lac St-Jean, Pro-Style Lettrage company and the supporters who have purchased their sticker.
Lets continue to encourage Katherine to reach the objective of 5000 stickers. Help us by ordering your “Ca va bien aller” sticker via Katherine’s Facebook page .
Thank you to those anonymous donors who celebrated Stephanie’s birthday by giving to the ARSACS research.
Congratulations to Katherine Samson, mother of two children with ARSACS, for her great initiative! More than 400 stickers “Ça va bien aller” sold already to finance ARSACS research. You can order your $5 sticker via Katherine’s Facebook page. Thanks to Katherine and to all of you for supporting ARSACS research.
Patients from 21 different countries are registered in the International ARSACS Patient Registry. ARSACS is around the world. See map of the country of the registered patients.
The Foundation would like to thank all anonymous donors who celebrated Rachelle’s birthday with a donation to support ARSACS research.
The next meeting of the Foundation’s Board of Directors will be held in Montreal on Thursday June 4, 2020.
A researcher at UNC Catalyst for Rare Diseases presents her project “Characterization TAU phosphorylation in ARSACS using a Sacsin KO model”
Dr. Cynthia Gagnon, member of the ARSACS research team, has designed with her colleagues a new set of measurements to track the ARSACS symptoms. This new index called DSI-ARSACS will help to better assess how the disease is progressing and will provide the means to compare different groups of patients. There is now a reliable and standardized test, an essential element in conducting clinical trials. Article published in the SCA Source.
This is a special invitation to researchers interested in ARSACS to submit their research proposal by Friday May 22, 2020. A maximum of $100,000 for a period of one year with possibility of renewal for a second year. An application for a specific project could include several labs in Canada or elsewhere. In such a case, the $100,000 limit would not apply.
Each year, the Foundation offers annual research fellowships to advance the understanding of the disease and lead to a treatment. So send your proposal and required documents . Application and Appendix
Deadline to send your proposal: Friday May 22,2020.
The “Diner des Producteurs 2019” will be part of the Télé-Québec TV program “Un Chef à la Cabane” , Friday, February 14 at 8:00 pm. Behind the scene, the preparation of this annual benefit event with guest chef Pierre Gagnaire at work.
Thank you to the individuals who have responded to the email sent requesting to confirm or update their data in the ARSACS Patient Registry. If you did not have a chance to respond yet, please send an email to firstname.lastname@example.org to confirm or update your data. It would be greatly appreciated. By being registered, you will be informed of any major developments and the possibilities of clinical trials. In addition, this registry builds an international network with all the positive impacts i.e. creating greater awareness of the disease, increasing research funding opportunities and generating interest from researchers and pharmaceutical companies.
Furthermore, if you or a family member has received an ARSACS diagnostic and are not registered, you are invited to do so. It is easy and simple. Go to https://www.arsacs.com/registry/
A new version of the ARSACS reference article in the GeneReviews is now available.
The Ataxia Charlevoix-Saguenay Foundation participates in the European Joint Programme on Rare Diseases
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 on Ataxia Charlevoix-Saguenay. The Canadian investment will be used to fund the participation of Canadian researchers in multinational research consortia in areas such as rare diseases.
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.
Le chercheur Dr Salven Erceg (Espagne) a publié un article sur les cellules souches pluripotentes induites par l’homme. Ceci a été rendu possible grâce au projet de recherche finance par la Fondation ARSACS.
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