A variability of symptoms exist among ARSACS patients which suggests that modifier genes might be implicated even among patients from the SLSJ region, and genetic variations rarely act alone. The team has already used genotyping and genealogical data to confirm a founder haplotype Hypothesis: modifier genes, beyond the known SACS variant, are also shared among patients. Hypothesis: modifiers may not strictly follow the same path observed for the primary ARSACS variant but may instead segregate within subsets of related individuals. They will now use regions of IBD instead of SNPs from GWAS to find causal associations with ARSACS.
Grant: $98,314
This project is jointly funded with the Richardson Trust Fund, contributing $50,000
Duration: One year
Dr. Simon Girard
Professor
Université du Québec à Chicoutimi
555 boul. Université
Chicoutimi, Quebec G7H 2G1
Contact: simon2_girard@uqac.ca