Welcome to the MyeliNeuroGene (Bernard) Lab

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We had the pleasure of attending the United Leukodystrophy Foundation Scientific Symposium and Family Conference this past week! It was a great time to meet with the international community of leukodystrophy researchers and clinicians to share our work and discuss new ideas. 

Our PhD student, Mack gave an insightful talk about the genotype-phenotype relationships within POLR3-related disorders. Adam (pictured), a master’s student had the opportunity to present the family impact and quality of life studies taking place in the lab. 

We most enjoyed meeting and speaking with patients and families of patients with leukodystrophy. It was wonderful to connect with you all! 

Thank you to the United Leukodystrophy Foundation for another wonderful conference! 

Some members of the MyeliNeuroGene Lab had the opportunity to present their work at the 25th Annual Neuropsychology Day (05/06/24), Healthy Brains, Healthy Lives Symposium 2024 (05/08-09/24), and the 9th Annual Child Health & Human Development Research Day (05/10/24)!  This was a great time to hear all about the amazing research happening in the fields of neuropsychology, neuroscience, and child health and human development.

Congratulations to one of our MSc. students Adam for winning first place in the junior poster presentations category at the CHHD Research Day!

: Adam and Laura pictured at the HBHL symposium.

Some members of the MyeliNeuroGene Lab had the opportunity to attend the rareDIGs Rare Disease Day 2024 Conference! It was a wonderful time to hear patients and their families’ stories and about the amazing rare disease research happening at McGill University.

Congratulations to one of our MSc. students Adam (pictured on left) for winning the third place prize in the poster presentations!

: Thank you for the great photos, Samuel (another MSc. Student)!

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

https://muhc.ca/news-and-patient-stories/news/bringing-rare-and-undiagnosed-diseases-out-shadows

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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

https://www.canada.ca/en/institutes-health-research/news/2024/02/government-of-canada-invests-20-million-to-improve-health-outcomes-of-children-living-with-rare-diseases.html?fbclid=IwAR2oFZ6LGZLlAaYyA-NV-H5V3Bwd02Xl9o1Vxg_wVruxcrp5gkBZs53I8aE

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: 

https://www.frontiersin.org/.../fneur.2023.1254140/full

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)

MUHC doctor's team reaches breakthrough against rare neurodegenerative disease (The Montreal Gazette)

Percée à McGill dans le traitement des leucodystrophies (La Press Canadienne)