Dr. Angela Genge, 2021 Discovery Grant recipient and co-investigator on the project ‘Novel biomarkers of SOD1 pathology in familial and sporadic ALS’ is pictured here with her team at The Neuro (Montreal Neurological Institute-Hospital) in 2021 A novel collaboration from Brain Canada and the ALS Society of Canada brings decades of expertise to ALS research Lauren Bentley August 16, 2022 1409 The Discovery Grant Program is designed to fuel innovation that will accelerate our understanding of ALS, identify pathways for future therapies and optimize care to improve quality of life for people and families affected by this devastating disease. Thanks to an ALS Canada-Brain Canada Discovery Grant, two McGill-based researchers who usually work on different diseases are bringing together their individual strengths to make progress on understanding amyotrophic lateral sclerosis (ALS). ALS is a debilitating and incurable neurodegenerative disease that affects nearly 3,000 Canadians at any given time. Dr. Angela Genge, Director of The Neuro’s ALS Clinic and Research Program and an associate professor at McGill, has been working on clinical trials for ALS for years. But there’s still a major hurdle to identifying effective treatments: how we measure disease progress and the effectiveness of treatments. “We need to bring in people who are working on biomarkers in other neurodegenerative diseases and focus their expertise in biomarker development on ALS,” – Angela Genge “We’re still using functional measures to see whether or not something is working,” she said. This includes patient self-reporting or observations by clinicians, which do not always provide the most consistent information. Dr. Genge has a clear call for what’s needed: biomarkers. Biomarkers are measurable signs in the blood or tissue of a patient that can reveal the presence or impact of a disease. They offer a more objective way to track the progress of a disease like ALS, or whether or not a treatment is working. While biomarker research in ALS is still quite young, researchers in other diseases have decades of expertise in biomarker development that could help fill in the biomarker gaps in ALS. “We need to bring in people who are working on biomarkers in other neurodegenerative diseases and focus their expertise in biomarker development on ALS,” said Dr. Genge. Fortunately, that’s exactly what’s happening, with help from an ALS Canada-Brain Canada Discovery Grant. A gene with a history Dr. Gerhard Multhaup is a professor in the Pharmacology Department at McGill, where he specializes in molecular causes of Alzheimer’s disease, a field that has a much longer history of biomarker work than ALS. After Dr. Genge gave a guest presentation about ALS in a class Dr. Multhaup was teaching on neurodegenerative diseases at McGill, they began to talk. How could Dr. Multhaup bring together his experience in biomarker development with Dr. Genge’s experience in clinical trials? They decided to work together on a gene called SOD1, the first gene ever identified as a causal factor in ALS. SOD1 usually makes a protein that acts as an antioxidant, which is good for our bodies. But if the gene malfunctions (or “misfolds”), it can create a protein that becomes toxic to motor neurons. This toxic protein contributes to 2-3% of ALS cases. Highly sensitive new technology is allowing Dr. Genge and Dr. Multhaup to test if they can track how misfolded SOD1 proteins change over time. In this way, SOD1 could serve as a biomarker, a crucial piece missing in many ALS clinical trials. This is just one idea Drs. Multhaup and Genge will explore with funding from the Discovery Grant. More crosstalk = more answers SOD1 has been studied in relation to neurodegenerative diseases for decades, including by Dr. Multhaup, who started as a researcher in Germany nearly 30 years ago. “It’s pretty special that Dr. Multhaup and I are working together,” Dr. Genge said. Her hope is to encourage more scientists with skills and knowledge in identifying biomarkers to follow in Dr. Multhaup’s footprints and contribute their abilities to ALS research. Dr. Catherine Ferland, Chief Research and Programs Officer at Brain Canada, agrees. “Through advances in research and technology, we now understand that the brain is a single, complex, and integrated system with commonalities across disorders,” she explains. “This collaboration is a great example of how widening the scope of inquiry and broadening perspectives can lead to insightful discoveries.” Dr. David Taylor, Vice President, Research at ALS Canada shares this enthusiasm for the collaboration. “Good biomarkers for ALS will help us get to faster and more definitive decisions around diagnosis, prognosis, whether a treatment works and for whom it might work. ALS Canada is pleased to support this work and hopes to have the opportunity to prioritize more novel biomarker work in the years to come.” Funding that makes an impact Since 2014, ALS Canada’s partnership with Brain Canada has resulted in more than $24 million being invested in leading-edge ALS research that has helped further understanding of the disease. The Discovery Grant Program is designed to fuel innovation that will accelerate our understanding of ALS, identify pathways for future therapies and optimize care to improve quality of life for people and families affected by this devastating disease. In 2022, nine projects awarded through the 2021 Discovery Grant Program will benefit from $1.125 million in funding. “With new technology and with our different backgrounds, we want to fill this knowledge gap.” – Gerhard Multhaup The Discovery Grant Program has been made possible with the financial support of Health Canada, through the Canada Brain Research Fund, an innovative arrangement between the Government of Canada (through Health Canada) and Brain Canada, and of the generosity of provincial ALS Societies, ALS Canada donors and community-based efforts, including 40 per cent of net proceeds from the Walk to End ALS. www.braincanada.ca www.als.ca