The final report of the research project “Discovery of New ARSACS Modifier Genes in the Saguenay Founder Population” led by Dr. Simon Girard is now available.
Funded by the Foundation for the 2023-2024 period, this project has provided genealogical data for 166 patients and has helped identify the founding couple responsible for the haplotype associated with the c.8844delT variant. These data have been combined with phenotypic data to identify modifier genes. Although no modifier gene have been identified at this stage, further analyses are underway to explore subgroups of patients.