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.

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
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
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

Principal Investigator and Geneticist

Sebastien Jacquemont

Principal Investigator - Geneticist

Research Team

Guillaume Huguet

Research associate

Charles-Olivier Martin

Research coordinator

Laura Peyras

Lab manager

Marine Lardennois

Administrative assistant

Martineau Jean-Louis

Bioinformticist

Zohra Saci

Bioinformticist

Marylin Koayes

Genetic counselor

Khadijé Jizi

Genetic counselor

Anne-Marie Bélanger

Research Assistant

Valérie Fontaine

Research Assistant

Post-doc

Kuldeep Kumar

Postdoc - Neuroimaging

Jakub Kopal

Postdoc

Doc Students

Elise Douard

Phd Candidate (2016)

Thomas Renne

Phd Candidate (2021)

Cécile Poulain

Phd Candidate (2021)

Sayeh Kazem

Phd Candidate (2021)
Co-supervised

Master Students

Nadine Younis

Master student

Annabelle Harvey

Master student

Catherine Proulx

Master student

Andréanne Proulx

Master student

Trainees

Jade England

Medical Genetics M.Sc

Alumni

Sandra Martin-Brevet

PhD (2019) Neuroscience

Claudia Modenato

Phd Candidate (2016)

Clara Moreau

Postdoc - Neuroimaging

Petra Tamer

M.Sc

Elise Barbeau

Postdoc

Aia E. Jonch

Phd (2019) Geneticist

Catherine Schramm

Postdoc (2019) Statistics

Collaboration

Mor Absa Loum

Assistant Professor

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!