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Fourth International Symposium on ARSACS

The fourth international symposium on ARSACS will be held in Montreal on November 10th & 11th,2016.

 

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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.

 

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$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.

 

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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)

 

Dr. Paul Chapple

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 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 

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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 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.

Dr. Stefan Strack

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.

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$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 .

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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.

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Dr. Paul Chapple

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.

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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.

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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.

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