McLaughlin Centre Scholars Program

Lead Institution: The Hospital for Sick Children

Supervisor: Dr. Jacob Vorstman

Project Title: An Integrated Precision Approach to Predicting Neurodevelopmental Outcomes in Children with Rare Genetic Conditions 

Year Awarded: 2026

Personal Background

Vincent-Raphaël Bourque, M.D., FRCPC, is a McLaughlin Centre Research Fellow in the Genetics and Genome Biology Program, The Hospital for Sick Children. He completed subspecialty residency training in Child and Adolescent Psychiatry at McGill University in 2026. A member of the Royal College Clinician Investigator Program (CIP), he concurrently pursued training in genomics, machine learning, and data science at Université de Montréal and the Mila. As a Ph.D. candidate, he is advised by Dr. Sébastien Jacquemont. 

Research Interests

I study child development and the early-life factors that influence health, with particular attention to individuals with developmental disabilities and genetic conditions. To do so, I analyse molecular data and developmental information, so that we can better understand each child’s development, and ultimately, develop new prevention, support, and treatment approaches. 

A key component of my research is working in partnership with young people and their parents. My approach combines Canadian and international large-scale databases, genome sequencing, and comprehensive clinical data, to characterize gene-gene and gene-environment interactions that influence development and health. Alongside my research, I am actively involved in knowledge translation, from genomic science to clinical care.

Lead Institution: Mount Sinai Hospital, Sinai Health

Supervisor: Dr. Keith Jarvi

Project Title: Detecting structural variants in male infertility using long-read sequencing

Year Awarded: 2026

Personal Background

I completed my MSc and PhD in Bioinformatics at the University of Guelph, where I became fascinated by applying DNA sequencing analysis to complex biological problems. That has set the direction for everything since. Working with Dr. Stefan Keller and Dr. Daniel Ashlock, I developed evolutionary algorithms for immune repertoire analysis and applied them to cluster neurological diseases in dogs. I am now a Research Fellow at The Hospital for Sick Children, working on male infertility with Dr. Keith Jarvi and Dr. Steve Scherer. Outside of research, I am a birdwatcher, a gamer, and an anime fan, and I build game apps — all of which keep the creative side of problem-solving alive.

Research Interests

My research uses long-read whole-genome sequencing to find genetic causes of male infertility that conventional testing misses. The Y chromosome is full of repetitive, palindromic sequence that short reads cannot resolve. With long-read technology, complicated structural variants can be mapped with higher confidence. I also study why infertile men carry an unexpectedly high burden of hereditary cancer and DNA repair gene variants. This suggests that infertility may be an early signal of broader health risk, and I hope it will change how these men are counselled.

Lead Institution: Donnelly Centre, University of Toronto

Supervisor: Dr. Mikko Taipale

Project Title: Discovery and characterization of factors that regulate mislocalization of disease-causing coding mutants

Years Awarded: 2025 and 2026

Personal Background

I am a postdoctoral fellow at the University of Toronto with a PhD in Pharmacology from the University of Alberta and over a decade of experience in biochemical and molecular research. My scientific journey began at the University of Calgary, where I investigated how toxic metals affect the structure and function of biomembranes. Building on this foundation, my doctoral and postdoctoral work transitioned toward understanding protein regulation and stability using genetic, biochemical, and proteomic approaches. I have authored several first-author publications spanning topics from membrane biophysics to post-translational modification-based protein control and CRISPR-based screening methods.

Research Interests

My current research interests centre on uncovering cellular mechanisms that govern protein mislocalization and stability, with a focus on how genetic mutations and small molecules modulate these processes. I aim to integrate large-scale ORF screening, BioID proximity labelling, and pharmacological libraries to identify and functionally characterize mislocalized protein variants. Ultimately, my goal is to translate molecular insights into strategies for correcting aberrant protein localization in disease contexts.

Lead Institution: Public Health Ontario

Supervisor: Dr. Venkata Duvvuri

Project Title: Advancing Syphilis Research through Genomic Medicine: Development of Novel Tools to Study the Complexity of Syphilis Infection

Year Awarded: 2025

Personal Background

I pursued a PhD in Biology at McMaster University under the co-supervision of Dr. Brian Golding and Dr. Hendrik Poinar. During this time, I reconstructed a 16^th century Escherichia coli and a 14^th century Brucella melitensis genome while pioneering the use of pangenomes in microbial ancient DNA analyses. I was also involved in implementing methods to confirm the relative ages of ancient DNA. These works taught me the importance of interdisciplinary collaboration and have strongly influenced how I approach my research projects. I am currently a post-doctoral fellow at Public Health Ontario under the supervision of Dr. Venkata Duvvuri, giving me the opportunity to apply these skills to answer practical questions.

Research Interests

My research focuses on infectious disease population dynamics with a particular emphasis on the intersection of evolution, genomic epidemiology, and population genetics. As part of the McLaughlin Centre Scholars Post-Doctoral Fellowship, I am developing a genomic surveillance framework for syphilis (Treponema pallidum) to improve public health monitoring. With rates of syphilis in Canada increasing consistently, a greater understanding of the population genetics and AMR profiles of T. pallidum is needed. Beyond the fellowship, I’m also involved in genomic epidemiology analyses of Influenza A and RSV in Ontario with the aim of improving reporting practices of respiratory diseases in Ontario.

Lead Institution: The Hospital for Sick Children

Supervisor: Dr. Christian Marshall

Project Title: A mechanism-aware pipeline for prioritizing rare non-coding variants in population-scale genome datasets

Year Awarded: 2026

Personal Background

I was born and raised in Italy, where I completed a BSc in Biological Sciences and an MSc in Molecular Biology at the University of Milan, with a thesis focusing on DNA repair mechanisms. I then moved to Canada to pursue a PhD at the University of Toronto under the supervision of Dr. Ronald Cohn and Dr. Zhenya Ivakine, where I worked to identify and validate disease-causing genes for rare neurodevelopmental disorders. A turning point in my research interests came when I had the opportunity to speak directly with families and patients affected by genetic conditions for which the underlying genes had not been identified. I was struck by how eager families were to understand the genetic basis of their child’s condition and how their child’s unique genetic information could provide insight into disease progression and future treatments. This experience made me realize the value of studying individual genomes and deepened my interest in understanding the genetic causes of disease and the clinical impact of human genetic variation.

Research Interests

My research focuses on interpreting the non-coding genome to identify variants underlying rare pediatric disorders. By designing computational strategies to prioritize variants in these challenging regions, I aim to increase the diagnostic yield for individuals with rare diseases.

Lead Institution: Ontario Institute for Cancer Research

Supervisor: Dr. Jared Simpson

Project Title: Developing a Comparative Mammalian Genome Annotation Pipeline to Uncover the Molecular Basis of Extreme Traits Linked to Human Disease

Years Awarded: 2025 and 2026

Personal Background

I completed my undergraduate degree at Western University in Genetics. I did my PhD at the University of Toronto in Molecular Genetics and the Genes and Genome Biology department at The Hospital for Sick Children with Dr. Michael Wilson. My PhD thesis focused on developing and applying RNA-seq and scRNA-seq methods to the study of complex traits, with a biological focus on pubertal development. Collaboration was fundamental to my PhD work, where I gained considerable experience working with single-cell RNA-seq, DNA methylation, and CUT&RUN data. I was introduced into the world of non-model genomics through a collaboration with Dr. Melissa Holmes and my PhD lab at U of T-Mississauga campus, where we aimed to identify regulatory networks driving pubertal suppression in the naked mole-rat (Heterocephalus glaber; NMR). It quickly became apparent that we could not reliably map our findings to the NMR genome, severely limiting the biological interpretation of our results. To overcome this roadblock, I began working in 2020 with Dr. Jared Simpson, my current postdoctoral advisor, to use long-read sequencing to build a chromosome-level, highly accurate NMR reference genome. I then completed comprehensive repeat and genic annotations in collaboration with ENSEMBL and comprehensive epigenetic annotations using a chromatin state map built in my PhD lab.  This project has been the bedrock of my current and future work.

As a Toronto native, I've enjoyed being able to work at U of T and/or SickKids as a summer student, then a graduate student, since high school. The research environment at U of T has played an instrumental role in shaping me personally and professionally. Outside of science, you can most likely find me out with my dog and fiancé, rock climbing, or making music.

Research Interests

I am interested in the genomic and epigenomic events leading to extreme adaptation and unique physiological traits in non-model rodents, including the naked mole rat. My research contributes to identifying genetic and epigenetic mechanisms underlying how species have overcome adverse physiological processes related to diseases.

My technical expertise and training are in computational biology and genomics, with an emphasis on building tools to integrate multiomic datatypes to help answer a biological question. When teaching undergraduates, I describe a biological phenomenon as a picture in Photoshop with multiple “layers”. In this analogy, each genomic experiment (e.g., RNA-seq, ChIP-seq-H3K27Ac, ATAC-seq) is a different “layer” and multiomic data analysis is the process of combining these layers to create a “real” image. I use a mutliomic approach of layering complementary pieces of evidence to disentangle a biological question and probe at a gene regulatory network for each project. I also combine data generated by collaborators with large publicly available sequencing projects to develop multiomic methods.