A meeting of the research team was held in Montreal on March 26 with Dr. Yves Robitaille pathologist and contributor to the project. Advancements have been made on several fronts. Also, researchers from Harvard University in Boston have made an important discovery which will have some impact on the ARSACS project. Their research is on the Sacsin, protein involved in ARSACS. As a result of the research conducted by Harvard many labs will now work on the Sacsin. This important discovery was published on March 5, 2010 in the well known scientific magasine "CELL". The article talks about the Angelman syndrome.

The 22 baby mice are doing well !

The mice, received last December, are now out of quarantine since February 8 and gave birth to 22 babies on February 11. Over the next few weeks, the research efforts will be concentrated on determining the genetic composition of the new baby mice hoping that some of them will be "knockout" mice ( i.e. inactivated SACSIN gene). Then the research team hopes to increase the number of mice and start the first experiences.

Concerning the "knockin" mice, an important step of the process has been completed i.e.the construction of the DNA vector. The next step will consist of the production of embryons cells of the mouse.

Dr. Paul Chapple joins the research team!

The Foundation is pleased to fund Dr. Paul Chapple who will work from his London laboratory (England) on the ARSACS and more specifically on the sacsin. See Research Team for his biography.

The transgenic ARSACS mice are here!

The first lines of transgenic ARSACS mice have arrived on December 17, 2009. The mice were generated by the consortium NorCOMM led by Dr. Geoffrey G. Hicks from Winnipeg. These are the first lines of mice genetically altered with a copy of the inactivated SACSIN gene. They will be reproduced between them to produce the "knockout" mice which will have no copy of the functional SACS gene. If the mice survive, they will allow us to better understand the role of the gene involved in ARSACS. They can also serve as animal model of the ARSACS not only for understanding the evolution of the disease but also, hopefully, be useful in finding new treatments.

Furthermore, concerning the "knock-in " mice which will carry a mutation of the SACSIN gene causing disease in humans without removing the protein, the production by the Ozgene company from Australia is going according to plan. The mice should be sent to Dr. Brais' laboratory at the Hospital of the University of Montreal during 2010. The scientific experiment with other transgenic models of ataxia will mark a major milestone in our efforts to develop a treatment for ARSACS.

Symposium of the GRASP

More than 100 persons attended the presentation given by Mrs. Sonia Gobeil at the GRASP Symposium on Nov. 23rd. The objective of the presentation was not only to create awareness of the Foundation of the Ataxia Charlevoix- Saguenay but also to provide a testimonial to the researchers of the importance of research for the indivuals living with a sickness.GRASP is a scientific network subsidized by the Fonds de Recherche en Santé du Québec to inform the public and the researchers of the importance of fundamental research in areas such as ARSACS. See Speech.

Dr. Anne McKinney's Project Outline

A novel method, the organotypic slice culture technique, will be used to help further understand the role of the sascin protein in ARSACS. For more details, see Project.

Meeting of the Scientific Committee

Dr. Paul Chapple and Dr. Esmeralda Vermeulen from the UK will meet with the Scientific Committee on October 2 in Montreal. The objective of this important meeting is to review the status of the research. Attending the meeting will be also Dr. Jean-Pierre Bouchard, Dr. Bernard Brais, Emily Deane, Marie-Josée Dicaire, Dr. Kalle Gehring, Martine Girard, Sonia Gobeil, Jean Groleau, Dr. Roxanne Larivière, Jacques Marchand, Dr. Anne McKinny, Dr. Peter McPherson, Dr. Guy Rouleau and Dr. Isabelle Thiffault.

American Academy of Neurology Congress

Presentation of the results of the SACS mutations

The results of the different SACS mutations responsable for the Ataxia of Charlevoix -Saguenay will be presented at the American Academy of Neurology Congress to be held in Seattle (Washington) from April 25 to May 2, 2009.

Research on ARSACS conducted in the UK

Dr Paul Chapple 's research article on ARSACS being published in Human Molecular Genetics Journal

Dr Paul Chapple is a research scientist at Barts and the London Medical School in the UK. He has been interested in the ARSACS protein Sacsin for several years. In October 2007, he obtained some funding from the Medical Research Council UK to look at Sacsin function.

"In the paper we have looked at where sacsin is expressed in rodent brain and tested the function of domains (regions) of the protein. We have also looked at the affects of removing the protein from cells that are expressing another mutant protein that 'misfolds'.Altogether our work is suggestive of a 'molecular chaperone' function for sacsin".

Read the unedited article.

Research Project of the Fondation - Work Plan

Over the next few months, the research team will focus its efforts on :

• Completing the study on the brain and neurons of the hippocampus.
• Complete the current studies on the histology of the brain of mice to identify where the sacsin is in the neurons population and to produce a model of variable expression of the SACS gene in the neurons of hippocampus.
• Completing the study of the protein interactors Complete the identification of the proteins which are partners in the sacsin and the characteristics of their physical interactions. cDA: finding the conditions of transfection.
• Establish the ideal conditions and best cell lines for the purpose of surexpression by transfection of the DNAc of the SACS gene.