With his vast experience in medical research and relationships with biotechs and pharmas , Dr. Lafrenière will be mainly responsible to promote and stimulate interest in ARSACS within the scientific community. His expertise will also help identify potential financial partners in ARSACS research. Ensuring coordination with the research team members to ensure maximum efficiency is also part of his mandate.
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.
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
11 research projects will share $1 million as part of the Foundation’s research program for 2016-2017.