The Ataxia Canada Foundation thanks CDPQ for the financial support provided to the research. This project aimed to reprogram patient-derived cells into induced pluripotent stem cells (iPSC) for the study of ARCA1, a disease for which there is a significant lack of representative cellular models.

Impact of this Research:

• Specific Differentiation of Brain Cells: Including cerebellar neurons and Purkinje cells, which are affected by the disease. The optimized differentiation protocol, with its remarkable efficiency, will be shared with the scientific community, thereby facilitating research in this field.
• Establishment of a Coculture Model: For Purkinje cells and other cell types, offering a unique tool for studying ARCA1. This research contributes to understanding the underlying mechanisms of the disease and has the potential to be applied to other hereditary ataxias, paving the way for therapeutic discoveries.
• Commitment to Open Science Principles: Ensuring that these iPSC lines will be available to researchers worldwide, promoting collaboration and advancing ARCA1 research. Only the administrative aspect of the material transfer agreement between CHU de Québec-Université Laval and McGill’s C-BIG biobank remains. A lawyer from the office is currently involved in this matter, and the samples resulting from the project are currently available directly through CHUL.

By humanizing the development of therapies, these iPSCs offer promise for future treatments and collaborations with biotech and pharmaceutical companies.

Conclusion:

This project has made significant progress in understanding ARCA1 and has created invaluable resources for further research. It illustrates the power of cellular reprogramming and collaborative open science initiatives to elucidate the mysteries of complex diseases such as ARCA1.