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.
Application for research fellowships by May 25,2017
The Foundation offers annual research fellowships that will lead to a treatment for ARSACS. A $100,000 grant could be awarded for a period of one year with possibility for renewal for a second year. Researchers interested should apply at the latest by May 25,...
Demande de bourses d’ici le 25 mai 2017
Afin d'encourager et d'accélérer le développement d'un traitement pour l'ARSACS, la Fondation accordera des bourses de recherche jusqu'à 100 000$ pour une période de 12 mois avec possibilité de renouvellement pour une deuxième année. Les chercheurs intéressés doivent...
Save the date
Thursday October 26, 2017. Save the date so you will not miss the annual "Dîner des Producteurs"
Réservez la date
Le jeudi 26 octobre, 2017. Réservez la date afin de ne pas manquer le "Dîner des Producteurs"
“Dîner des Producteurs” 2016
The “Dîner des Producteurs” 2016 gets media coverage in the Montréal Centre-Ville virtual magazine.
“Dîner des Producteurs” 2016
Couverture médiatique du “Dîner des Producteurs” 2016 dans la revue virtuelle Montréal Centre-Ville .
$780,000 raised at the “Dîner des Producteurs”
The 1oth edition of the “Dîner des Producteurs” held in Montreal on December 1,2016 raised the net sum of $780,000 for ARSACS research. Thank you to all participants, sponsors, volunteers and donors for this great success ! Read more
7800 00$ pour la recherche lors du “Dîner des Producteurs”
La 10ième édition du «Dîner des Producteurs» tenu à Montréal le 1 er décembre 2016 a permis de recueillir 780 000 $ pour la recherche sur l'ARSACS. Merci à tous les participants, commanditaires, bénévoles et donateurs pour ce grand succès! Pour en savoir...
Next Board meeting on Monday December 19
The Foundation Board of Directors will meet on Monday December 19,2016 in Montreal.
Prochaine réunion du CA, lundi le 19 décembre
Le Conseil d'adminsitration de la Fondation se réunira le lundi 19 décembre à Montréal.
Drug screening molecules- Analysis of first results
ARSACS researchers will be at the Institute for Research in Immunology and Cancer at the University of Montreal (IRIC) on December 13, 2016 to analyze in greater details the first results of the drug screening therapeutic molecules carried out over the last months ....
Criblage de molécules – Analyse des premiers résultats
Des chercheurs ARSACS se rendront le 13 décembre 2016 à l'Institut de recherche en immunologie et en cancérologie de l'Université de Montréal (IRIC) afin d'analyser plus en détail les premiers résultats du criblage de molécules thérapeutiques effectué au cours des...
4 ième Symposium international sur l’ARSACS
Plusieurs chercheurs provenant de différents pays ont participé au 4ième Symposium sur l’ ARSACS qui s’est déroulé les 10 et 11 novembre 2016 au Neuro à Montréal. Cette conference a permis aux chercheurs de partager leurs connaissances et de discuter des...
4th International Symposium on ARSACS
Several researchers from different countries participated in the 4th Symposium on ARSACS held on November 10 & 11, 2016 at the Neuro in Montreal. This conference provided an opportunity for researchers to share their knowledge and to discuss...
Fourth International Symposium on ARSACS
Several researchers from different countries participated in the 4th Symposium on ARSACS held on November 10 &11 at the Neuro in Montreal. This conference provided an opportunity for researchers to share their knowledge and to discuss the progress of their...
4ième Symposium international sur l’ ARSACS
Plusieurs chercheurs provenant de différents pays ont participé au 4ième Symposium sur l' ARSACS qui s'est déroulé les 10 et 11 novembre au Neuro à Montréal. Cette conference a permis aux chercheurs de partager leurs connaissances et de discuter des avancements de...
The Foundation retains the services of Dr. Ronald Lafrenière, consultant
With his vast experience in medical research and relationships with biotechs and pharmas , Dr. Lafrenière will be mainly responsible to promote and stimulate interest in ARSACS within the scientific community. His expertise will also help identify potential...
La Fondation engage le consultant Dr Ronald Lafrenière
Dr Lafrenière, étant donné sa vaste expérience en recherche médicale et ses connaissances du milieu des biotechs et des pharmas, sera principalement responsable de la promotion et de susciter l'intérêt pour l'ARSACS au sein de la communauté scientifique. Son...
Collaboration with the University of Saskatchewan
The Foundation is pleased to announce a co-funding collaboration with the University of Saskatchewan, recognizing the strong support from the Richardson Family Fund, to advance medical research on ataxia of Charlevoix-Saguenay. Press Release
Collaboration avec l’Université de la Saskatchewan
La Fondation est heureuse d'annoncer une collaboration de co-financement avec l'Université de la Saskatchewan, reconnaissant ainsi le soutien de la Fondation de la famille Richardson, pour faire advancer la recherche médicale sur l'ataxie de...
Success! Growth of cells from ARSACS patient skin
Dr. Paul Chapple's lab has successfully grown cells from a small biopsy of ARSACS patient skin and has reprogrammed them to become stem cells which can turn into other cell types. The following step was to grow ARSACS neurons from such stem cells. This resulted in...
Réussite! Croissance de cellules à partir de la peau d’un patient ARSACS
Le laboratoire du Dr Paul Chapple a développé avec succès des cellules à partir d'une biopsie de la peau d'un patient ARSACS et les a reprogrammées pour devenir des cellules souches qui peuvent se transformer en d'autres types cellulaires. L'étape suivante a...
Alliance between ARSACS Foundation and Ataxia UK
The Ataxia of Charlevoix-Saguenay Foundation and Ataxia UK are pleased to announce a co-funding alliance to support and to advance medical research in the UK on ataxia of Charlevoix-Saguenay. This alliance is clear evidence of openness and commitment towards...
Alliance entre la Fondation et Ataxia UK
La Fondation de l'Ataxie Charlevoix-Saguenay et Ataxia UK sont heureux d'annoncer une alliance de co-financement pour soutenir et faire avancer la recherche médicale au Royaume-Uni sur l'ataxie Charlevoix-Saguenay. Cette alliance est une preuve claire de l'ouverture...
Care4Rare Year 3 – progress report
Care4Rare is a research project to identify therapeutic leads for rare diseases such as ARSACS. The Foundation is financing the ARSACS portion under the leadership of Dr. Kym Boycott and Dr. Alex MacKenzie from the Children Hospital of Eastern Ontario. Year 3...
Care4Rare- rapport d’étape
Care4Rare est un projet de recherche afin d’identifier des pistes thérapeutiques pour les maladies rares telles que l’ARSACS. La Fondation finance la partie ARSACS sous la direction du Dre Kym Boycott et du Dr Alex MacKenzie de l’Hôpital pour enfants de l’Est de...
ARSACS case reported from South India
A group of researchers in South India under the leadership of Dr. M Suraj Menon Department of Neurology, Government TD Medical College, Alappuzha India have reported an ARSACS case from South India. See article.
Un cas ARSACS en Inde
Un groupe de chercheurs sous la direction du Dr M Suraj Menon Départment de Neurologie, Government TD Medical College, Alappuzha, Inde ont évalué un patient atteint de l'ARSACS dans le sud de l'Inde. Voir article (en version anglaise seulement).
Publication by Dr. Erceg on hiPSC
Dr. Salven Erceg from Spain has published an article in the Neuroscientist on the human induced pluripotent stem cells (hiPSC). This article is an outcome of the research financed by the ARSACS Foundation. Read more
Publication du Dr Erceg sur les cellules souches pluripotentes
Dr Salven Erceg d'Espagne a publié un article dans The Neuroscientist sur les cellules souches pluripotentes induites par l'homme dans le cadre du projet de recherche financé par la Fondation ARSACS. Article en version anglaise seulement. Pour...
Role of Neurofilaments in the Pathogenic Cascade of ARSACS – Dr. Heather Durham
Project description to come Duration: one year Grant: $100,000 Contact: Dr. Heather Durham, professor McGill University Tel:(514)-398-8509; Email: heather.durham@mcgill.ca
Dr. Mckinney and Dr. Watt’s research progress report
"Physiological characterization of functional deficits and potential therapeutic targets in ARSACS mice."-Progress report of Dr. McKinney and Dr. Watt's research project funded by the Foundation. Read More
Projet des Dres McKinney et Watt- rapport d’étape
Rapport d'étape du projet de recherche des Dres McKinney et Watt et Fon, projet financé par la Fondation “Physiological characterization of functional deficits and potential therapeutic targets in ARSACS mice.”(version anglaise seulement) Pour en savoir...
$1Million to 11 selected research projects for 2016-2017
11 research projects will share $1 million as part of the Foundation's research program for 2016-2017. Read more
1 MILLION $ à 11 projets de recherche
11 projets de recherche se partageront 1 million $ dans le cadre du programme de recherche 2016-2017 de la Fondation. Pour en savoir plus
Disrupted Protein Homeostasis in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay- Dr. Paul Chapple
“The Role of Sacsin in Autophagy Offers Novel Therapeutic Opportunities”- Dr. Federica Morani
The specific aims of the research project are the following: To investigate the role of sacsin in autophagy we will propose to answer the following questions: 1. Is autophagy defective in sacsin KD (knockdown) cells, such as SH-SY5Y or ARSACS skin fibroblasts?...
“Caractérisation des déficiences, limitations d’activités et restrictions de participation ainsi que de leurs interrelations chez les personnes atteintes d’ataxie Charlevoix-Saguenay (ARSACS)”- Dr Luc Hébert
Description à venir Durée: un an Bourse : $98,000 Contact: Dr.Luc Hébert , Chercheur, CIRRIS, Bureau H-1702 . IRDPQ, 525 boulevard Hamel, Québec QC G1M 2S8 Téléphone: 418-529-9141 poste 6579 Courriel : lucj.hebert@fmed.ulaval.ca;...
Caractérisation des déficiences musculaires associées aux difficultés à la marche et aux transferts chez les patients atteints de l’ARSACS :de la cellule à la fonction- Dr Luc Hébert
Caractériser les déficiences de force et de contrôle de mouvements volontaires et les limitations d'activité liées à la mobilité; 2) caractériser leurs interrelations; et 3) identifier les variables cliniques qui expliquent le mieux les limitations d'activités telle...
“Caractérisation des déficiences, limitations d’activités et restrictions de participation ainsi que de leurs interrelations chez les personnes atteintes d’ataxie Charlevoix-Saguenay (ARSACS)”- Dr Luc Hébert
Description à venir Durée: un an Bourse : $98,000 Contact: Dr.Luc Hébert , Chercheur, CIRRIS, Bureau H-1702 . IRDPQ, 525 boulevard Hamel, Québec QC G1M 2S8 Téléphone: 418-529-9141 poste 6579 Courriel : lucj.hebert@fmed.ulaval.ca;...
“Disrupted Protein Homeostasis in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay””- Dr. Paul Chapple
1. Identify the proteostasis systems that are activated in sacsin null cells 2. Identify proteins that are recruited to the aggresome-like structure in sacsin null cells 3. Identify if there is evidence for disruption of proteostasis systems in human ARSACS neurons....
“The Role of Sacsin in Autophagy Offers Novel Therapeutic Opportunities”- Dr. Federica Morani
The specific aims of the research project are the following: To investigate the role of sacsin in autophagy we will propose to answer the following questions: 1. Is autophagy defective in sacsin KD (knockdown) cells, such as SH-SY5Y or ARSACS skin fibroblasts? If yes,...
“Caractérisation des déficiences musculaires associées aux difficultés à la marche et aux transferts chez les patients atteints de l’ARSACS :de la cellule à la fonction”- Dr Luc Hébert
Caractériser les déficiences de force et de contrôle de mouvements volontaires et les limitations d'activité liées à la mobilité; 2) caractériser leurs interrelations; et 3) identifier les variables cliniques qui expliquent le mieux les limitations d'activités telle...
Characterizing and Ameliorating Axonal Transport Defects in ARSACS Mice – Dr. Thomas Schwartz
Project description to come Duration: one year Grant: $74,000USD Contact: Dr. Thomas L. Schwarz, Professor, F.M. Kirby Neurobiology Center Children's Hospital, Boston and Dept.of Neurobiology Harvard Medical School CLSB 12-130, 3 Blackfan Street,...
Elucidating mechanisms underlying motor coordination rescue in a mouse model of ARSACS – Dr. Alanna Watt and Dr. Anne McKinney.
The McKinney and Watt labs, which are located in close proximity in the Bellini Life Sciences Complex and who already share a mouse colony of ARSACS mice (Sacs-/-) will determine the physiological mode of action of TPS-100 a pharma and aminopyridines on Purkinje cell...
“Elucidating mechanisms underlying motor coordination rescue in a mouse model of ARSACS ” – Dr. Alanna Watt and Dr. Anne McKinney.
The McKinney and Watt labs, which are located in close proximity in the Bellini Life Sciences Complex and who already share a mouse colony of ARSACS mice (Sacs-/-) will determine the physiological mode of action of TPS-100 a pharma and aminopyridines on Purkinje cell...
Impact of donations – article by McGill Neuro
McGill Neuro published an article on the impact of donations to support research using the example of the Ataxia Charlevoix-Saguenay Foundation - Article ( French version only)
La philanthropie change des vies – Article de McGill Neuro
McGill Neuro publie un article sur l'importance des dons pour soutenir la recherche en donnant comme exemple la Fondation de l'Ataxie Charlevoix-Saguenay - Article
Dr. Chapple published in the scientific journal Human Molecular Genetics
Dr. Paul Chapple’s group have just published a paper in the scientific journal Human Molecular Genetics that further investigated what is wrong with mitochondria in cells that lack the ARSACS protein sacsin. The research identifies that mitochondria in cells from...
Publication dans la revue Human Molecular Genetics
Le groupe du Dr Paul Chapple vient de publier un article dans la revue scientifique Human Molecular Genetics concernant ce qui ne va pas avec les mitochondries dans les cellules qui manquent de la protéine sacsin ARSACS. La recherche identifie que les mitochondries...
Publication dans la revue Human Molecular Genetics
Le groupe du Dr Paul Chapple vient de publier un article dans la revue scientifique Human Molecular Genetics concernant ce qui ne va pas avec les mitochondries dans les cellules qui manquent de la protéine sacsin ARSACS. La recherche identifie que les mitochondries...
PHD student does her thesis on ARSACS
Mrs. Emma Duncan a student in Professor Paul Chapple’s laboratory at Queen Mary University of London, who was partly funded by the ARSACS Foundation, successfully passed her PhD examination. Mrs Duncan’s thesis on 'The Neurodegenerative Disease Autosomal Recessive...
Thèse de doctorat sur l’ARSACS
Mme Emma Duncan, une étudiante dans le laboratoire du Dr Paul Chapple à l'Université Queen Mary de Londres, en partie financée par la Fondation ARSACS, a passé avec succès son examen de doctorat. Sa thèse ‘’The Neurodegenerative Disease Autosomal Recessive Spastic...
Dr. Stefan Strack’s research progress report
“Rescuing mitochondrial division in ARSACS by CIDR"-Progress report of Dr. Strack's research project funded by the Foundation. Read More
Rapport d’étape du projet de recherche du Dr Stefan Strack
Rapport d’étape du projet de recherche du Dr Stefan Strack financé par la Fondation “ Rescuing mitochondrial division in ARSACS by CIDR" (en version anglaise seulement). Pour en savoir plus
Reminder: May 20th deadline to apply for a research grant
The Foundation continues to fund ARSACS research projects in 2016, a maximum of $100,000 per year with a possibility of renewal for a second year. If you are interested in the subject, please send your completed application form now. The deadline is May 20, 2016. Read...
Rappel: Date limite le 20 mai 2016
La Fondation continue de financer des projets de recherche sur l'ARSACS en 2016, un maximum de 100 000 $ par année avec une possibilité de renouvellement pour une deuxième année. Si le sujet vous intéresse, n'hésitez pas à faire parvenir votre formulaire de...
Research grants available to researchers
The Foundation continues to fund ARSACS research projects in 2016, a maximum of $100,000 per year with a possiblilty of renewal for a second year. If you are interested in the subject, please send your completed application form now. The deadline is May 20, 2016.
Therapeutical trial with a molecule offered by a biotech cie
As an outcome of the conference call held on January 12th with a biotech company, the ARSACS research team in Montreal will proceed with a preclinical trial on ARSACS mice with a molecule offered by the biotech company. More details to come.
$729,000 for ARSACS research
The "Dîner des Producteurs" held in Montreal on December 3 raised the net sum of $729,000 for ARSACS research. The Ataxia Charlevoix-Saguenay Foundation would like to thank the attendees and donors for their support and generosity [x_button shape="square" size="mini"...
356.15$ pour la recherche sur l’ARSACS
Lors de la levée de fonds "Gâteaux et pâtisseries faits maison " qui a eu lieu en mai à la succursale Duvernay de la RBC à Laval. Sincères remerciements Karo Gagné et à son équipe ainsi qu' à tous les donateurs.
$356.15 to support ARSACS research
"Cakes and Pastries" fundraising event held in May at the Duvernay Branch of RBC in Laval raised $ 356.15 for the Foundation. Thanks to Karo Gagné and her team and to the donators .
Reserve your table! Thursday December 1st 2016
The annual fundraising dinner for the Foundation of Ataxia Charlevoix- Saguenay will be on Thursday December 1st 2016. You can download a reservation form for tables here. Read More
Réservez votre table! Jeudi le 1er décembre, 2016
La soirée-bénéfice annuelle au profit de la Fondation de l'Ataxie Charlevoix-Saguenay aura lieu le jeudi 1er décembre,2016. Vous pouvez télécharger le formulaire de réservation pour votre table. Pour en savoir plus
Dr. Paul Chapple’s research project – progress report
“Modelling ARSACS using induced pluripotent stem cell derived neurons with isogenic controls”- Progress report of Dr. Chapple's research project funded by the Foundation. Read More
Projet de recherche du Dr Paul Chapple- rapport d’étape
Rapport d'étape du projet du Dr Chapple financé par la Fondation “Modelling ARSACS using induced pluripotent stem cell derived neurons with isogenic controls” (en version anglaise seulement). Pour en savoir plus
Dr. Thomas Schwarz’s research project – progress report
"Characterizing and Ameliorating Axonal Transport Defects in ARSACS Mice" - Progress report of Dr. Schwarz's research project funded by the Foundation for 2015-2016. Read More
Projet de recherche du Dr Thomas Schwarz- rapport d’étape
Rapport d'étape du projet du Dr Schwarz financé par la Fondation en 2015-2016."Characterizing and Ameliorating Axonal Transport Defects in ARSACS Mice" (en version anglaise seulement). Pour en savoir plus
Dr. Mohan Babu’s research project – progress report
"Elucidating Sacsin Function through Genetic Interaction Maps" - Progress report of Dr. Babu's research project, funded by the Foundation for 2015-2016. Read More
Projet de recherche du Dr Mohan Babu- rapport d’étape
Rapport d'étape du projet du Dr Babu financé par la Fondation en 2015-2016. "Elucidating Sacsin Function through Genetic Interaction Maps" en version anglaise seulement). Pour en savoir plus
Dr. Heather Durham’s research project – progress report
"Role of Neurofilaments and Mitochondria in the Pathogenic Cascade of ARSACS: Relevant Biomarkers for Therapeutic Development" - Progress report of Dr. Durham's research project, funded by the Foundation for 2015-2016. Read more
Projet de recherche du Dre Heather Durham- rapport d’étape
Rapport d'étape du projet du Dre Durham financé par la Fondation en 2015-2016. "Role of Neurofilaments and Mitochondria in the Pathogenic Cascade of ARSACS: Relevant Biomarkers for Therapeutic Development" (en version anglaise seulement). Pour en savoir plus
Meeting of ARSACS researchers
There will be a meeting of all researchers working on ARSACS projects on April 13, 2016 in Montreal.
Rencontre des chercheurs sur l’ARSACS
La prochaine rencontre des chercheurs sur l'ARSACS aura lieu le 3 avril, 2016 à Montréal.
Investigating the Link Between Impaired Mitochondrial and Calcium Dysregulation in SACS/Purkinje Neurons – Dr. Francesca Maltecca
The research project has three specific objectives: to test the distribution of mitochondria in distal dendritic branches of Sacs primary PCs; to evaluate dysregulation of Ca2+ homeostasis in Sacs mice and finally to test the efficacy of targeted therapy in Sacs mice....
“Investigating the Link Between Impaired Mitochondrial and Calcium Dysregulation in SACS/Purkinje Neurons ” – Dr. Francesca Maltecca
The research project has three specific objectives: to test the distribution of mitochondria in distal dendritic branches of Sacs primary PCs; to evaluate dysregulation of Ca2+ homeostasis in Sacs mice and finally to test the efficacy of targeted therapy in Sacs mice....
Mapping drug-Sacsin interactions and mitochondrial assemblies in ARSACS patient fibroblasts – Dr.Mohan Babu
Aim 1- Mapping GI network of ARSACS-associated SACS target using CRISPR 1.1. Quantitative readout for scoring GIs 1.2. GI validation and benchmarking Aim 2 - Characterizing ARSACS-linked SACS pathways for function discovery Duration: one year Grant: $69,500 Contact:...
“Elucidating Sacsin Function Through Genetic Interaction Maps”- Dr.Mohan Babu
Aim 1- Mapping GI network of ARSACS-associated SACS target using CRISPR 1.1. Quantitative readout for scoring GIs 1.2. GI validation and benchmarking Aim 2 - Characterizing ARSACS-linked SACS pathways for function discovery Duration: one year Grant: $100,000 Contact:...
“Mapping drug-Sacsin interactions and mitochondrial assemblies in ARSACS patient fibroblasts”- Dr.Mohan Babu
Aim 1- Mapping GI network of ARSACS-associated SACS target using CRISPR 1.1. Quantitative readout for scoring GIs 1.2. GI validation and benchmarking Aim 2 - Characterizing ARSACS-linked SACS pathways for function discovery Duration: one year Grant: $69,500 Contact:...
Rescuing mitochondrial division in ARSACS by CIDR”- Dr. Stefan Strack
Aim 1. Generate and characterize mice with chemically inducible mitochondrial division in Purkinje neurons (L7-CIDR mice). Aim 2. Evaluate rescue of Purkinje cell degeneration and motor deficits in SACS-/- mice by inducible mitochondrial division. Duration: two years...
“Cerebellar Cells Derived From Induced Pluripotent Stem Cells in 3D Culture Generated From ARSACS Patients As Faithful Disease Model”- Dr.Slaven Erceg
Objective 1. To generate in vitro disease model by creating ARSACS disease- specific cerebellar cells via iPSC from patients and healthy individuals as controls which will serve as a tool to depict disease-specific molecular markers. Objective 2. The comparative...
“Characterizing and Ameliorating Axonal Transport Defects in ARSACS Mice”- Dr. Thomas Schwartz
The objective is to identify compounds that will improve axonal transport in neurons carrying the mutation. The compounds we will survey are ones with a known mechanism of action and thus will identify cellular signaling pathways with the potential to overcome the...
“Sacsin Chaperone Activity” – Dr.Jason Young
The research project is to examine the ARSACS mutations in the J-HEPN fragment of sacsin, to engineer Hsc70 to potentially identify sacsin-directed substratesand to address whether sacsin promotes degradation of neurofilament heavy subunit (NFH) Duration: one year...
“High-throughput strategy to identify large domains of Sacsin” – Dr Kalle Gehring
The greatest bottleneck in structural studies of Sacsin is the preparation and screening of fragments of thousands of Sacsin constructs with different boundaries, different mutations, and sequences from different species. To overcome this, we have developed a...
“Analyzing the influence of ARSACS mutations on the function of human neurons derived from induced pluripotent stem cells.” – Dr. Peter McPherson and Dr. Edward Fon
The researchers will use genome editing of hiPSCs to test the hypothesis that point mutations in the SACS gene lead to alterations in mitochondrial function and neurofilament organization in neurons derived from ARSACS patients. Specific aim 1: Generate genome-edited...
“Design and Synthesis of Second Generation Voltage-gated Potassium Channel Modifiers for Correcting Neuronal Dysfunction as a Treatment Strategy for ARSACS” – Talon pharmaceuticals
The overall objective of the project is to devel+op TPS-100 as a first treatment of ARSACS and to identify a second generation drug based on efficacy and knowledge of receptor pharmacology of TPS-100. Our goal is to synthesize a directed library of compounds with...
“Elucidating Sacsin Function Through Genetic Interaction Maps”- Dr.Mohan Babu
Aim 1- Mapping GI network of ARSACS-associated SACS target using CRISPR 1.1. Quantitative readout for scoring GIs 1.2. GI validation and benchmarking Aim 2 - Characterizing ARSACS-linked SACS pathways for function discovery Duration: one year Grant: $100,000 Contact:...
Rescuing mitochondrial division in ARSACS by CIDR”- Dr. Stefan Strack
Aim 1. Generate and characterize mice with chemically inducible mitochondrial division in Purkinje neurons (L7-CIDR mice). Aim 2. Evaluate rescue of Purkinje cell degeneration and motor deficits in SACS-/- mice by inducible mitochondrial division. Duration: two years...
“Cerebellar Cells Derived From Induced Pluripotent Stem Cells in 3D Culture Generated From ARSACS Patients As Faithful Disease Model”- Dr.Slaven Erceg
Objective 1. To generate in vitro disease model by creating ARSACS disease- specific cerebellar cells via iPSC from patients and healthy individuals as controls which will serve as a tool to depict disease-specific molecular markers. Objective 2. The comparative...
“Characterizing and Ameliorating Axonal Transport Defects in ARSACS Mice”- Dr. Thomas Schwartz
The objective is to identify compounds that will improve axonal transport in neurons carrying the mutation. The compounds we will survey are ones with a known mechanism of action and thus will identify cellular signaling pathways with the potential to overcome the...
“Sacsin Chaperone Activity” – Dr.Jason Young
The research project is to examine the ARSACS mutations in the J-HEPN fragment of sacsin, to engineer Hsc70 to potentially identify sacsin-directed substratesand to address whether sacsin promotes degradation of neurofilament heavy subunit (NFH) Duration: one year...
“High-throughput strategy to identify large domains of Sacsin” – Dr Kalle Gehring
The greatest bottleneck in structural studies of Sacsin is the preparation and screening of fragments of thousands of Sacsin constructs with different boundaries, different mutations, and sequences from different species. To overcome this, we have developed a...
“Analyzing the influence of ARSACS mutations on the function of human neurons derived from induced pluripotent stem cells.” – Dr. Peter McPherson and Dr. Edward Fon
The researchers will use genome editing of hiPSCs to test the hypothesis that point mutations in the SACS gene lead to alterations in mitochondrial function and neurofilament organization in neurons derived from ARSACS patients. Specific aim 1: Generate genome-edited...
“Design and Synthesis of Second Generation Voltage-gated Potassium Channel Modifiers for Correcting Neuronal Dysfunction as a Treatment Strategy for ARSACS” – Talon pharmaceuticals
The overall objective of the project is to devel+op TPS-100 as a first treatment of ARSACS and to identify a second generation drug based on efficacy and knowledge of receptor pharmacology of TPS-100. Our goal is to synthesize a directed library of compounds with...
Projet des Drs Brais et Gagnon – un des 9 projets JTC 2015 des IRSC
"La découverte de gènes pour traiter des troubles cérébraux dégénératifs" , un projet de recherche sous la direction du Dr Bernard Brais et Dre Cynthia Gagnon, est l'un des neuf projects de recherche de JTC 2015 sélectionné par les IRSC pour appuyer la recherche de...
DR. Brais and Dr. Gagnon’ s research project – One of the nine CIHR JTC 2015 projects
"Gene discovery to treat degenerative brain disorders" , a research project under the leadership of Dr Bernard Brais and Dr Cynthia Gagnon, is one of the nine JTC 2015 projects selected by CIHR in supporting cutting-edge rare disease research on an international...
Identification and functional analysis of the Sacsin interactome using the BioID assay”– Dr. Bernard Brais and Dr. Eric Shoubridge
Continue the investigation of sacsin partners using the BioID assay, using the full length sacsin as well as different sacsin mutants and to further characterize ARSACS fibroblast cytoskeletal disorganization as a cell-based model. Duration: one year Grant: $100,000...
Role of Neurofilaments and Mitochondria in the Pathogenic Cascade of ARSACS : Relevant Biomarkers for Therapeutic Development” – Dr. Heather Durham
The research project has two specific aims: to continue experiments to determine if loss of sacsin functions in NF metabolism plays a central role in pathogenesis of ARSACS and to determine the effect of sacsin domains on the phenotype in our ARSACS culture models and...
“Identification of cellular mechanisms underlying TPS-100 rescue of motor function in ARSACS mice” – Dr. Alanna Watt and Dr. Anne McKinney.
The McKinney and Watt labs, which are located in close proximity in the Bellini Life Sciences Complex and who already share a mouse colony of ARSACS mice (Sacs-/-) will determine the physiological mode of action of TPS-100 a pharma and aminopyridines on Purkinje cell...