Estimating carrier rates in Quebec for various autosomal recessive conditions using CARTaGENE data

Status Ongoing
Start date 2023
Location Quebec
Researcher Laberge, Anne-Marie
Associated institution Centre Hospitalier Universitaire Sainte-Justine and Université de Montréal
Summary

Certain autosomal recessive genetic diseases are more frequent in the Quebec population, notably due to founder events and the province’s demographic history. This study uses CARTaGENE genotyping and sequencing data to directly estimate carrier rates for several of these conditions using genetic data rather than theoretical calculations or clinical prevalence. This approach provides more precise and up‑to‑date estimates.
The project also aims to document the frequency of specific founder mutations associated with these diseases. Such information can help improve screening tests, better inform clinical practice, and support the development of preventive strategies tailored to the Quebec population.
The first analyses of variant frequencies have been completed, and the team is currently working on drafting scientific manuscripts.

Themes
  • Chronic diseases
  • Genetics and genomics
  • Public health and epidemiology
Data types
  • Genetic data
  • Questionnaire data