The Can-GARD/CCMG Leading Strand Series is a self-approved group learning activity (Section 1) as defined by the Maintenance of Certification Program of the Royal College of Physicians and Surgeons of Canada.

Agenda

Emerging Sequencing Technique for Rare Neurological Diseases
Our capacity to accurately diagnosed rare diseases, including rare neurological diseases, is greatly influence by the development of novel sequencing technologies. In this presentation, Dr. Martine Tetreault will summarize the current state of the field of sequencing technologies and their application to the field of neurogenetic disease. Dr. Tetreault will focus on long-read sequencing, and discuss its advantages and challenges.

Speaker: Dr. Martine Tetreault

Dr. Martine Tetreault is an Associate Professor in the Department of Neuroscience at the Université de Montréal and a researcher at the CRCHUM since 2018. Her research combines multiple omics approaches to study the genetic etiology of neuromuscular and neurodegenerative diseases. Dr. Tétreault’s career has been very productive with over 70 publications. She has received funding from several Canadian and American organizations. Recently, she was awarded a grant from the Genome Canada Precision Health Initiative aiming at sequencing thousands of patients affected with neurological diseases using short and long-read sequencing. The quality of her research was further highlighted by receiving a FRQS Junior 2 salary award (2024), the David Green Rising Researcher/Clinician Award from Muscular Dystrophy Canada (2022) and the Early Career scientific award from the CRCHUM (2025).

This series is for genetics health professionals led by the Canadian College of Medical Genetics and co-sponsored by Can-GARD. Speakers will be translation-focused researchers, clinicians and innovators.  The series will help attendees anticipate, access, and apply new approaches and technologies for patient care.