Studying ARSACS pathophysiology and screening for therapeutics using sick human neural cells instead animal cells or cell lines is highly desirable but challenging because of the difficulty to access these cells without harming patients. It is possible to reprogram patients’ cells into human induced pluripotent stem cells (hiPSCs) and then to redifferentiate hiPSC into neural cells. This strategy is being exploited more and more to study an increasing number of neurological disorders. We propose to create an open and accessible repository of ARSACS hiPSCs reprogrammed with the Sendai virus method in order to significantly increase the availability of research resources in the best interest of patients. Peripheral blood mononuclear cells (PBMC) will be isolated from blood samples of participants and reprogrammed at the iPSC Québec platform (CHU de Québec-Université Laval). Then, cells will be stored in the C-BIG repository (McGill) in order to facilitate their distribution worldwide to all ARSACS researchers. Through this project, resources made available to the ARSACS research community will be increased.

Grant: $ 72,000

Contact:

Dr. Nicolas Dupré
CHU de Québec
1401, 18e Rue
Département des sciences neurologiques
Québec, Québec
Canada G1J 1Z4
+1 418-649-0252, poste 63177
nicolas.dupre@chudequebec