Martine Tétreault knew she wanted to devote herself to applied health research ever since her undergraduate internship in a genetics laboratory. She began her graduate studies in neurogenetics, and her keen interest in new technologies led to a post-doctorate in bioinformatics.

In the laboratory she established in 2018 at the CRCHUM, Tétreault and her team combine experimentation and computational analysis. Their goal: to compare DNA sequences from patients suffering from neuromuscular and neurodegenerative diseases with a reference genome to identify genetic variations potentially linked to these diseases.

Her group of six students, one research associate and two bioinformaticians uses bioinformatics—a science combining computer science, mathematics and biology—to analyze large quantities of genes. To do so, they use the CHUM's local biobank, as well as those of other research centres in Quebec and Canada.

Significant discoveries

Martine Tétreault is the winner of the 2024 CRCHUM Awards of Excellence—Emerging Researcher Award. She has co-authored 75 articles that have advanced the diagnosis of rare diseases while deepening our understanding of the pathological mechanisms of neurological diseases.

Over the past year, her research into rare diseases has led to the discovery of a variation in a little-studied gene in a patient with a muscular disease. This gene is not included in standard diagnostic tests since its link with muscular diseases is poorly understood. This discovery is crucial, as a treatment exists for this type of mutation. Tétreault therefore wishes to publish this case to inform the medical community of the importance of this gene in diagnoses.

In another research project, her team sequenced blood cells from patients with Parkinson's disease. The goal is to explore the idea that changes in the body's periphery might precede the disease's classic motor symptoms, such as tremors. Results published in May revealed that patients with Parkinson's disease have more activated immune cells and higher expression of stress-related genes compared to healthy individuals and patients with atypical forms of Parkinsonism.

This discovery could be used to design biomarkers to help distinguish Parkinson's disease from atypical forms, which is often difficult in clinical settings, especially in the early stages of the disease.

Moving toward more precise diagnostics

Along with Éric Samarut, another CRCHUM researcher, Tétreault has also conducted research on certain ataxias as part of a grant from Ataxia Canada to study CANVAS syndrome (Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome). The two scientists are particularly interested in repeated extensions of genetic sequences, which in the case of CANVAS were discovered in 2019.

Although the size of the genetic extension is linked to symptom severity, it does not explain all variability (severity, age of onset). In particular, the project uses long-read sequencing to identify the genetic modifiers involved. According to their hypothesis, greater genetic extension would be a factor that explains symptom variability.

Good news: last March, Tétreault and her team secured $5.7M in funding from Genome Canada and Génome Québec, in addition to $2M from the Fondation du CHUM. These funds will enable them to continue their NeuRo Genomics Initiative project, which aims to sequence the genomes of people suffering from various neurological diseases.

Neuroscience research theme highlights

May 2024

As part of the research scholars program of the Fonds de recherche du Québec – Santé (FRQS), Martine Tétreault receives nearly $300,000 to study neurological diseases.

The organization also awards approximately $140,000 to Dr. Sami Obaid to study how diffusion neuroimaging can improve epilepsy surgery outcomes.

July 2024

Adriana Di Polo, Dr. Catherine Larochelle and Dr. Alexandre Prat receive funding totalling over $2.8M from the Canadian Institutes of Health Research (CIHR).

August 2024

Researcher Adriana Di Polo and her PhD student, Sana El Hajji, publish a study in Science Advances on the efficacy of daily eye drops in stimulating retinal neuron regeneration and survival in a rodent model of glaucoma.

November 2024

Dr. Alexandre Prat is appointed to one of the Fonds de recherche du Québec – Santé committees.

February 2025

Élie Bou Assi and Dr. Dang Khoa Nguyen, along with their colleague Frédéric Lesage of Polytechnique Montréal, receive $817,020 in CIHR funding to improve epilepsy diagnoses using computational analysis of electroencephalograms and machine learning.

March 2025 Christine Vande Velde wins two grants from ALS Canada totaling $425,000 to shed light on the pathogenesis of amyotrophic lateral sclerosis (Lou Gehrig's disease).

This text is taken from our 2024-2025 Activity Report