CO-FUNDED PROJECT BY IVADO
Neurodevelopmental disorders, which are a frequent cause of pediatric consultations, have a significant health impact on the children affected. Whole genome analysis using microchips is carried out in clinical practice among these children and, in about 15% of cases, it identifies mutations that contribute significantly to the developmental disorders. These mutations are found in more than 400 patients each year at the CHU Sainte-Justine. However, their impact on cognition and on the structure and function of the brain remains unknown. Moreover, clinical studies are not an option for most of the mutations identified since they are very rare and diverse. A growing body of evidence now suggests that genes which share similar characteristics produce similar effects on brain networks and cognition.
The purpose of this project is to develop models to better understand the effects of genome-wide mutations on cognition, brain structure and connectivity. The models will be developed using large cohorts of individuals for whom genetic, cognitive and neuroimaging data have been collected. Using the algorithms, clinicians will then be able to predict the effect of mutations on the neurodevelopmental symptoms observed in their patients.
Lead Genome Centre: Génome Québec
Partner: IVADO
Co-investigators:
| Aurélie | Labee | HEC |
| Pierre | Bellec | Université de Montréal |
| Mallar | Chakravarty | Université McGill |
| Jacques | Michaud | Université de Montréal |