Research 2012

Summary of the ARSACS Team Meeting

All members of the ARSACS research team participated in a meeting held on November 29th, 2012 in Montreal. See Summary to find out the key points of the meeting.

A long trip for the knock-in mice

On November 6, 2012, 8 sacsin knock-in mice ( mice with a mutation of the SACS gene) willl start their long trip from Ozgene, Australia to Montreal. We hope that they have a good trip!

Emerging Team meeting on ARSACS

Summary of the Emerging team meeting held on September 20, 2012.

Oliver Lambercy in Saguenay

September 2012 – Oliver Lambercy, a swiss researcher, will be in Saguenay from September 25-27,2012 to present his lab’s research work to the ARSACS team and to the staff at the Centre de Réadaptation in Jonquière.

Research on new mutations

September 10, 2012- The Foundation of Ataxia Charlevoix-Saguenay is proud to support research on new mutations responsable for ARSACS in Quebec. An article done in collaboration and accepted by the “Canadian Journal of Neurological Sciences ” proves that there are at least 12 distinct mutations in the Quebec population. The article will be published in January 2013.

Research Status report for 2012

See compte rendu prepared by Dr. Brais concerning the ARSACS research project in 2012.

A premier – Creation of Knock-in ARSACS mice

April 2012 – After several attempts, Oxgene, a corporation from Australia, has succeeded in creating transgenic Knock-in ARSACS mice, (mice where a gene has been modified). Up to now, the research team had been successful in creating some Knock-out mice ( mice where the ARSACS gene has been removed), however this is a first in producing Knock-in mice. This will provide the research team with an additional model. The research at Oxgene has been funded in total by the Foundation of the Ataxia Charlevoix- Saguenay.

Important advancement in ARSACS research

Defective cell “batery”plays central role in ARSACS. This important discovery made by the research team funded by the Ataxia of Charlevoix- Saguenay Foundation brings a significant understanding not only on ARSACS but also on other neurodegenerative diseases such as parkinson and alzheimer. See Press Release issued by the Montreal Neurological Institute and Hospital on January 17, 2012.

Furthermore, this advancement has been published in January 2012 in the prestigious american scientific magazine Proceedings of the National Academy of Sciences of the USA (PNAS).

For a more detailed description of the scientific results of the research see Dr Peter McPherson’s article.

The important discovery has received significant media coverage around the world: Nouvelles TVA, Neuro. CIHO FM 96 Charlevoix, Gazette, Discover Magazine, article en Russie.