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 !
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 . Stay tuned.
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 respective research.
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
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 obtaining ARSACS patient neurons in a petri dish available for research; a useful tool for modelling the disease. Image 3 shows some of these neurons, and in particular their long axonal process. See the following images: Image 1: ARSACS fibroblast, Image 2: iPSC colonies, Image 3: ARSACS derived neurons, Image 4: ARSACS fibroblasts mitochondria.
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 ground-breaking research and future development in ataxias. Press release
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 Progress Report
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.
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.
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 ARSACS patients have reduced activity of a metabolic pathway that uses enzymes to oxidise nutrients and produce cellular energy. They also express higher levels of genes involved in pathways that deal with mitochondrial damage. A possible mechanism for this decline in mitochondrial health is that a protein called Drp1, which is responsible for the separation of damaged parts of mitochondria from the mitochondrial network, is less efficiently recruited to mitochondria in cells lacking functional sacsin. A reduction in Drp1 mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay.
Teisha Y. Bradshaw; Lisa E.L. Romano; Emma J. Duncan; Suran Nethisinghe; Rosella Abeti; Gregory J. Michael ; Paola Giunti; Sascha Vermeer; J. Paul Chapple. Human Molecular Genetics 2016; doi: 10.1093/hmg/ddw173
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 Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Cellular Defects Due To Loss of Sacsin Function’ used cells grown from skin biopsies of Dutch and British ARSACS patients as a model system to investigate the molecular pathogenesis of the disease. The findings further implicate problems with mitochondria, which act as the cells power plant, and the cytoskeleton, which regulates cellular shape and transport.
“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 base.“Gene discovery to treat degenerative brain disorders”
“High-throughput strategy to identify large domains of Sacsin” – The goal of Dr. Kalle Gehring’s project,funded by the Foundation for 2015-2016, is to identify well-behaved Sacsin protein fragments for structural studies.
The Ataxia Charlevoix-Saguenay Foundation endorses and welcomes Rachel Harding’s (University of Toronto researcher) innovative approach in opening her research notebook to the research community in real time. Like Ms. Harding who is currently working on a large protein involved in a rare disease, the Foundation believes that open real time can open new channels of communication and collaboration. Providing access to data and research tools can only help accelerate drug discovery. For more information, see Press Release and Toronto Star
“Sacsin Chaperone Activity” project progress. Dr Jason Young’s project funded by the Foundation 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).“Sacsin Chaperone Activity” project progress
The Foundation is pleased to announce that Dr. Nicolas Dupré and Dr. Jacques Michaud have accepted to be on the Board of Directors. The Foundation would like to take this opportunity to thank Dr. Jean-Pierre Bouchard and Dr. Jean Mathieu for their contribution to the cause since the creation of the Foundation.
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.
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.
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