Could the study of neuromuscular junction proteins aid in the development of essential biomarkers?
Collaborators: Dr. Danielle Arbour and Dr. Roberta Piovesana at the Université de Montréal, and Dr. Robert Bowser, Barrow Neurological Institute
Dr. Richard Robitaille, at the Université de Montréal, received his first grant from ALS Canada ten years ago. Already a world-leading expert on the neuromuscular junction (NMJ), the funding was his first research foray into ALS and allowed him to find clinical applications for his expertise. His lab now spends nearly all their research efforts on the disease.
Dr. Robitaille’s work demonstrates how powerful Discovery Grants can be for moving ALS research forward.
This year, he received one of the first ever three-year, $300,000 versions of the Discovery Grants. The money will fund a project related to an upcoming clinical trial built upon the foundational research funded by his first Discovery Grant a decade ago.
The team will use this year’s grant to advance efforts to validate a set of candidate proteins linked to the NMJ as potential biomarkers for ALS treatment and disease progression. Biomarkers are objective measures to track the presence and effect of a disease in the body.
While many neurodegenerative diseases affect the places where neurons connect with other neurons, ALS also impacts the synaptic connection between a nerve and muscle cells – the NMJ.
If successful, using NMJ-linked proteins as biomarkers would have many advantages: changes to the NMJ appear early in the disease, potentially leading to earlier diagnosis and intervention. All forms of ALS lead to changes at the NMJ, making it a possible universal biomarker for the disease. Finally, changes in the NMJ can be tracked using blood samples – something much less invasive for people than a lumbar puncture or tissue sample.
“ALS has a big need for biomarkers, and these are very original. There’s nothing like this that’s been explored in ALS,” says Dr. Robitaille.
In addition, Dr. Robitaille will explore whether the NMJ could also be a target for treatment.
“It’s really exciting to use our basic research to target something with clinical use,” he says.
Dr. Robitaille is working with Dr. Robert Bowser at the Barrow Neurological Institute in Arizona, an international leader in finding biomarkers for ALS.
Beyond the scientific side of his work, Dr. Robitaille is deeply involved with SLA Quebec, a strong partner of ALS Canada, which helps him stay connected to people living with ALS.
“I try to get as practical as possible,” he says. “Science is fun, but there’s an ultimate goal that we should also be useful as fast as possible. That’s the main driver.”
The ALS Canada-Brain Canada Discovery Grant Program has been made possible by the Canada Brain Research Fund (CBRF), an innovative arrangement between the Government of Canada (through Health Canada), Brain Canada Foundation and ALS Canada.
To find out more about the 2022 ALS Canada-Brain Canada Discovery Grants, read the full press release here.