PROJECT 1
The Network to advance research on rare diseases in Quebec (RARE.Qc) is proud to announce the award of a $50,000 research grant to a multidisciplinary team from the Montreal Neurological Institute-Hospital (The Neuro) and Université de Sherbrooke, aimed at better understanding the involvement of glial cells in Fragile X–associated tremor/ataxia syndrome (FXTAS).
The funded project: Modeling Glial Dysfunction in Fragile X–Associated Tremor/Ataxia Syndrome Using Patient-Derived Induced Pluripotent Stem Cells (iPSCs).
Principal Investigator : Dr. Roberta La Piana, Associate Professor, Department of Neurology and Neurosurgery, Montreal Neurological Institute-Hospital (The Neuro), McGill University
- Dr. Roberta La Piana completed a medical degree and specialization in neuropediatrics at the University of Pavia, before pursuing postdoctoral training in neuroradiology at the Montreal Neurological Institute-Hospital, followed by a PhD in neuroscience at McGill University. A recognized specialist in genetic white matter diseases, she leads a research program on these conditions and, through her extensive network of clinical collaborators, ensures access to a growing cohort of patients with FXTAS, along with their in-depth clinical, radiological, and genomic phenotyping.
Co-Investigator: Dr. Karine Choquet, Assistant Professor, Department of Biochemistry and Functional Genomics, Université de Sherbrooke
- Dr. Karine Choquet earned a PhD in human genetics from McGill University, followed by a postdoctoral fellowship at Harvard Medical School in the laboratory of Prof. Stirling Churchman. An FRQS Junior 1 Research Scholar, she brings to the project cutting-edge expertise in long-read nanopore RNA sequencing, essential for characterizing the abnormal FMR1 mRNA isoforms involved in FXTAS pathophysiology. This project marks the beginning of a new collaboration between her recently established laboratory in Sherbrooke and teams at The Neuro.
Co-Investigator: Dr. Thomas Durcan, Associate Professor, Director of the Early Drug Discovery Unit (EDDU), Montreal Neurological Institute-Hospital (The Neuro)
- Dr. Thomas Durcan directs the EDDU, a leading platform for the derivation and characterization of neuronal and glial cells from induced pluripotent stem cells (iPSCs). His team will contribute their expertise in generating oligodendrocyte and astrocyte lines from FXTAS patient cells to the project, enabling direct study of the impact of the FMR1 premutation on glial cell development and function.
The project will be led by Abbe Lai, a PhD student supervised by Dr. La Piana, within the EDDU.
This grant will allow the team to extend their approach to a second cell line derived from a patient carrying the FMR1 premutation, along with its isogenic control line, building on protocols already established and validated on a first line. The project aims to determine whether the abnormalities observed in oligodendrocytes and astrocytes reflect the white matter involvement seen on brain imaging in individuals with FXTAS — a disease that remains too often underdiagnosed, particularly in women. True to The Neuro’s open science mission, the cell lines and protocols developed through this project will be made freely available to the scientific community.
This funding reflects the exceptional excellence and dedication of this research team. It was made possible thanks to the support of the Fonds de recherche du Québec – Santé. On behalf of the entire rare disease community, congratulations to the team!
PROJECT 2
The Network to advance research on rare diseases in Quebec (RARE.Qc) is proud to announce the award of a $50,000 research grant to a multidisciplinary team from the CHU de Québec-Université Laval and CHU Sainte-Justine (Université de Montréal), aimed at better understanding the neuromuscular dysfunction associated with Tatton-Brown-Rahman syndrome (TBRS).
The funded project: Modeling Neuromuscular Dysfunction in Tatton-Brown-Rahman Syndrome Using Patient-Derived Organoids
Principal Investigator : Dr. Serge McGraw, Professor, Department of Obstetrics and Gynecology, Université de Montréal, Researcher at the CHU Sainte-Justine Azrieli Research Center
- Dr. Serge McGraw completed a PhD in reproductive biology at Université Laval, followed by a postdoctoral fellowship in epigenetics at the Research Institute of the McGill University Health Centre. He now leads the Developmental Epigenetics Laboratory at the CHU Sainte-Justine Azrieli Research Center, where his work focuses on the developmental consequences of epigenetic disruptions occurring during early embryogenesis, including those involving the DNMT3A gene in Tatton-Brown-Rahman syndrome. A Senior Research Scholar of the Fonds de recherche du Québec – Santé (FRQS), he combines stem cell models (mouse embryonic and patient-derived iPSCs) with multi-omics approaches to understand how early epigenetic errors lead to developmental disorders. His expertise in developmental biology, stem cell modeling, and epigenetic regulation will guide the overall project, including the generation of iPSC organoids and the interpretation of DNMT3A-dependent mechanisms underlying neuromuscular defects.
Co-Investigator: Dr. Thomas Dupas, Postdoctoral Fellow, McGraw Lab, CHU Sainte-Justine Research Center
- Dr. Thomas Dupas completed his PhD at Nantes Université, within the research unit of the Institut du Thorax, before joining Dr. McGraw’s laboratory as a postdoctoral fellow. His work focuses in particular on understanding the role of the DNA methyltransferases DNMT3A and DNMT3B during early human development. As part of this project, he will oversee the day-to-day implementation of the neuromusculoskeletal organoid platform. He will also contribute to training the students involved in the project.
Co-Investigator: Dr. Vincent Picher-Martel, Adjunct Professor of Medicine (Clinical Scholar), Department of Medicine, Université Laval, Clinician-Scientist, Neurosciences Axis, CHU de Québec-Université Laval Research Center
- Dr. Vincent Picher-Martel completed his training in neurology before pursuing a postdoctoral research fellowship in neuromuscular diseases at Harvard Medical School and Massachusetts General Hospital. An FRQS Junior 1 Clinician-Scientist Scholar, he has led his own research team at the CHU de Québec–Université Laval Research Center since 2024. His work focuses on developing gene-targeted therapies for oculopharyngeal muscular dystrophy, as well as identifying genetic modulators of autophagy in amyotrophic lateral sclerosis. His clinical expertise in neuromuscular medicine, combined with his experience in induced pluripotent stem cell (iPSC)-derived cellular models applied to rare muscle diseases, will enable him to define and interpret the neuromuscular phenotypes relevant to TBRS—particularly those related to hypotonia and motor dysfunction—while strengthening the translational scope of the project.
TBRS is a rare disease caused by loss-of-function mutations in the DNMT3A gene, resulting in overgrowth, intellectual disability, and musculoskeletal abnormalities. With this grant, the team will develop 3D neuromusculoskeletal organoids from patient-derived iPSC lines, recreating distinct neural, muscle, and skeletal compartments within a single structure, in order to understand how DNMT3A mutations disrupt the development of neuromuscular circuits and whether restoring its expression can correct these abnormalities. This project represents the first application in Canada of this approach to model a rare epigenetic disease.
This funding reflects the exceptional excellence and dedication of this research team. It was made possible thanks to the support of the Fonds de recherche du Québec – Santé. On behalf of the entire rare disease community, congratulations to the team!
FOR MORE INFORMATION, CONTACT:
Christine Yergeau, RARE.Qc Network Manager
christine.yergeau@rimuhc.ca
info@rare.quebec