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!
To read the full article:
To read more about this news:
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.