Identifying Genetic Modifiers That May Influence ARSACS Symptoms – Dr Girard

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.

Subvention : $98,314
Ce projet est cofinancé avec le Richardson Trust Fund - une contribution de 50 000$.
Durée : un an

Dr Simon Girard
Professeur
Université du Québec à Chicoutimi
555, boulevard de l'Université
Chicoutimi, Québec G7H 2G1
Contact : simon2_girard@uqac.ca