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POLR3D variants cause POLR3-related (4H) Leukodystrophy
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:
The first Polr3b and 4H mouse model published in BRAIN
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:
Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy
To read more about this news:
Major scientific achievement gives hope to families affected by 4H leukodystrophy (MUHC News)
Percée à McGill dans le traitement des leucodystrophies (La Press Canadienne)
Leukodystrophy Awareness Month (September 2023)
The MyeliNeuroGene Lab had a great time at Dr. Bernard's house!
Dr. Bernard was awarded the Hugo Moser Service Award at the United Leukodystrophy Foundation conference.
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 MyeliNeuroGene lab present at the 2023 United Leukodystrophy Foundation Family Conference!
Dr. Bernard was awarded the Pfizer Research Award of Excellence for her research done on pediatric hypomyelinating leukodystrophies!
Dr. Bernard is a Montreal Children's Hospital Foundation Champion!
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.
Rare Disease day 2023
