Study on founder effects in the Quebec population

This study focuses on the founder effects that have shaped the Quebec population since the early colonial period. A small number of ancestors who settled between 1660 and 1760 contributed disproportionately to today’s genetic diversity, a pattern reinforced by region‑specific demographic histories. These dynamics help explain why certain hereditary diseases are more common in areas such as the Saguenay–Lac‑Saint‑Jean region.
The project combines genetic and genealogical data to better understand these founder effects in Quebec, as well as in comparison with other well‑known founder populations worldwide. Another component focuses on two diseases strongly associated with the Saguenay founder effect: myotonic dystrophy type 1 and autosomal recessive spastic ataxia of Charlevoix–Saguenay.
Using CARTaGENE and BALSAC data, the research team aims to trace the genealogical origins of these conditions, identify regions where certain variants are more frequent, and potentially discover new genetic modifier genes. These findings will improve understanding of Quebec’s genetic structure and help advance research on rare diseases in founder populations.

• Genetics and genomics
• Methodology and biostatistics
• Public health and epidemiology

• Genetic data
• Questionnaire data