There is currently a widening gap between the tidal wave of gene discovery in neuropsychiatric conditions and our poor understanding of rare genomic variants' effects on cognitive, behavioral, and neuroimaging traits. Deleterious Single Nucleotide Variants (SNVs) and Copy Number Variants (CNVs) are identified in 5 to 40% of individuals with neuropsychiatric disorders. Still, little is known on how they confer risk to these conditions.
The lab is focussed on the growing need for large-scale, systematic, structured, and quantitative phenotypic and genomic research in rare genomic variants.
We work with data collected by our group as well as collaborators, in individuals who carry specific high-risk factors for psychiatric conditions such as the 16p11.2, 1q21.1, 15q13.3.
We also investigate genome-wide, the effects of rare recurrent and non-recurrent CNVs and SNVs on cognition and brain architecture.


Articles

Projects

Rare genomic variants, brain structure, and functional connectivity

We are investigating the effects of CNVs on neuroanatomical traits such a cortical surface and thickness as well as resting-state fMRI. We are analyzing data from large international cohorts as well as neuroimaging data collected by our lab on individuals who carry rare genomic variants. Our goal is to understand how genomic variants that affect specific biological processes modulate brain architecture.

CNVs, SNVs, and their impact on cognition and risk for autism

We are using rare variants to map the effects of biological processes on cognition, behavior, and risk for psychiatric conditions. We developed MIND·CNV - which is a online tool created to help clinicians and researchers estimate the effect size of CNVs on cognitive ability and risk for autism.

Randomized control trial of metformin in fragile X syndrome.

We are assessing the efficacy of metformin in individuals with Fragile X Syndrome. In particular, effects on language and behavioral outcomes.
Clinical trial link

TACC & Q1K family cohort

The Transforming Autism Care Consortium (TACC) is a research network that connects and mobilizes Quebec’s strengths in autism research. Our main project is the Quebec 1000 families cohort (Q1k) gathering cognitive, behavioral, eye tracking, EEG, and neuroimaging data on 1000 families.

Selected Publications

Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples


Jama Psychiatry 2018
Effect sizes on IQ of most deletions can be reliably estimated by models using haploinsufficiency scores.

Neuropsychiatric mutations delineate functional brain connectivity dimensions contributing to autism and schizophrenia

Nature Communications (accepted)
16p11.2 and 22q11.2 Copy Number Variants may represent mechanistic building blocks shared across idiopathic conditions.

Differential effects of deletions and duplications on autism risk across the genome


American Journal of Psychiatry (accepted)
Autism risk conferred by duplications is less influenced by IQ compared to deletions. CNVs increase autism risk similarly in individuals with high and low IQ.

Team

Sebastien Jacquemont

Principal Investigator - Geneticist

Research associate - Postdocs

Guillaume Huguet

Research associate

Clara Moreau

Postdoc - Neuroimaging

Kuldeep Kumar

Postdoc - Neuroimaging

Mor Absa Loum

Postdoc - Statistics

Najmeh Alirezaie

Postdoc - Bioinformatics

PhD Students

Elise Douard

Phd Candidate (2016)

Claudia Modenato

Phd Candidate (2016)

Master students

Nadine Younis

Master student

Petra Tamer

Master student

Andréanne Proulx

Master student

Projects managers - Admin

Charles-Olivier Martin

Brain Canada manager

Laura Peyras

Lab manager

Marylin Koayes

Genetic counselor

Alumni

Anne Maillard

PhD (2015) Psychologist

Sandra Martin-Brevet

PhD (2019) Neuroscience

Aia E. Jonch

Phd (2019) Geneticist

Catherine Schramm

Postdoc (2019) Statistics

CNV prediction

This tool was created to help clinicians estimate the potential impact of deletions in the genome (hg19 genomic map) on cognition based on the results of Huguet et al. (JAMA psychiatry 2018).

Try out our tools!