We are incredibly proud to announce that we have received $3.1 million in NIH funding in collaboration with Children's Mercy Kansas City and the University of Utah to support groundbreaking leukodystrophy research.
This will allow us to apply the most recent and innovative long-read genome sequencing (HiFi-GS) to help find diagnoses for leukodystrophy patients and generate new models to study these diseases.
For more information, please read the Children's Mercy Kansas City news release!
Three of our summer students, Kelly-Ann, Mina and Jiayue, participated in the RI-MUHC Summer Student Research Day. It was a great opportunity for them to practice their presentation skills and to share their projects with fellow RI-MUHC students!
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