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.
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 the end of this summer. Her work is also aimed at understanding how the drug could offer neuroprotection in ARSACS.
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, Research Center “Principe Felipe”, Valencia, Spain.
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 applicable to you.
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 Gagnon will present the results of the research and their potential contributions for future therapeutic trials. You are all welcome: whether you are a person with ARSACS, a loved one, a clinician or someone interested in the subject. It’s free. Invitation.
The conference will be posted on the Foundation’s website at a later date.
To learn more about the projects of the Interdisciplinary Research Group on Neuromuscular Diseases, visit their Facebook page.
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 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.
Deadline to send your proposal: Friday May 24,2019.
Application and Appendix
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 and health professionals. Project overview.
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 the input of the patients.
Ms. Marjolaine Tremblay is currently developing such a questionnaire. Ms. Tremblay’s project is funded by the PREPARE initiative of which the Charlevoix-Saguenay Ataxia Foundation is a financial partner. Read more.
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.
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.