We are proud to announce that Dr. Bernard is the co-principal investigator on two new rare disease networks that have recently been funded!
Réseau pour Avancer la REcherche sur les maladies rares au Québec (RARE.QC), funded by Fonds de Recherche du Québec - Santé (FRQS) aims to bring together experts in rare disease research across Quebec. Through collaboration, they will be able to assess the rare disease landscape in Quebec, advance research and novel therapeutics, and improve provincial healthcare services for patients with rare diseases.
Led by Dr. Donald Vinh, Dr. Nicolas Pilon, Dr. Philippe Campeau, and Dr. Geneviève Bernard
RareKids-CAN: Pediatric Rare Disease Clinical Trials and Treatment Network has received $20M in funding from the Canadian Institute of Health Research (CIHR). This national network aims to "foster collaboration among researchers, patients, caregivers, health care providers, and policy makers; streamline clinical research; and support national and international clinical trials to advance discoveries, enable better prevention, diagnosis, and treatments, to improve health outcomes for children and adolescents affected by rare diseases."
Led by Dr. Dr. Thierry Lacaze-Masmonteil and the Maternal Infant Child and Youth Research Network (MICYRN) team
We are pleased to announce the recent publication of the first reported case of POLR3-related leukodystrophy caused by biallelic pathogenic variants in POLR3D.
This paper establishes POLR3D as a novel causative gene for POLR3-related leukodystrophy in addition to POLR3A, POLR3B, POLR1C, and POLR3K, expanding the genetic spectrum of 4H leukodystrophy.
This is an important discovery, further increasing our understanding of POLR3-related leukodystrophy and offering an additional marker for unsolved cases.
For the full article, please use the link provided:
We are happy to announce the publication in Brain of our recent work developing and characterizing a mouse model of POLR3-related leukodystrophy. This is the first Polr3b mouse model and importantly, the first 4H mouse model to demonstrate widespread hypomyelination, motor defects, hypodontia and craniofacial features, all disease characteristics found in patients with POLR3-related leukodystrophy.
We discovered that these mice had defects in the cells important for myelin production, the oligodendrocytes and their precursors. This model is an important to study POLR3-related leukodystrophy in more detail and to develop and test future therapeutics.
A big congratulations to Mack and the rest of the mouse team at the MyeliNeuroGene Lab for your amazing work. And thank you to our important collaborators, Dr. Trainor and his team at the Stowers Institute for Medical Research.
This milestone achievement for 4H leukodystrophy research was made possible by generous funding from The Yaya Foundation for 4H Leukodystrophy, Leuco-Action, the Tallman Family, Fondation du Children - The Children's Foundation, Fonds de recherche du Québec, and Canadian Institutes of Health Research. Thank you to all!
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We asked research students at the McGill University Health Center Research Institute if they’ve ever heard about leukodystrophies for Leukodystrophy Awareness Month.
Nous avons demandé aux étudiants en médecine de l’Université de Montréal s’ils avaient déjà entendu parler des leucodsytrophies pour le mois de la sensibilisation aux leucodystrophies.
This award recognizes the efforts of a medical professional who has greatly impacted the leukodystrophy community in patient care and research efforts. Dr. Bernard was recognized for her outstanding research in the field of hypomyelinating leukodystrophies, her exemplary patient care and tireless efforts working with the ULF and larger leukodystrophy community.
The Montreal Children’s Hospital Foundation honours its “Champion” medical workers for the exceptional care and dedication they provide to their patients.
Families can make a donation to the MCH Foundation to thank their “Champion” doctor, nurse or staff. Champions receive a certificate, a personalized message from the family, and a Champions Pin to wear proudly every day.