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Glossary of Genetic Terms

The ALS Society of Canada’s (ALS Canada) vision is a future without ALS. To achieve this vision, new treatments that can help with symptom management and slow down and someday stop the progression of amyotrophic lateral sclerosis (ALS) need to undergo clinical trials on humans to ensure that they are both safe and effective before being approved for widespread availability.

The ALS Society of Canada (ALS Canada) is committed to a future where anyone living with ALS, or with a known genetic risk of ALS, understands how genetics may impact them. We aim to provide accurate and relevant information, as well as pathways to action for those who wish to access genetic care.

In familial ALS, an inherited genetic mutation causes ALS. Many different genetic mutations have been linked to ALS, and not all families have the same mutation as the cause of their disease.

ALS Canada’s work is empowered by community. Discover how, in 2023, our collaboration with clinicians and investments in research aims to enhance care and the potential for future treatments.

From unravelling abstracts to diving deep into discussions, this resource will help you feel more confident the next time you dig into a complicated ALS research paper.

Bringing together researchers and community members to move the needle on ALS treatment and innovation

This glossary contains a list of scientific and medical terms and definitions that are relevant to amyotrophic lateral sclerosis (ALS).

Amyotrophic lateral sclerosis (ALS) is a complex disease with varying symptoms and severity for people affected. Due to its heterogeneity, diagnosing the disease can be challenging and finding effective treatments can also be difficult.

Toronto — In recognition of World Science Day, together with Brain Canada, the ALS Society of Canada (ALS Canada) is pleased to announce the 2023 ALS Canada-Brain Canada Clinical Research Fellowship and Trainee Award recipients. These early career grants are designed to support the training and research of clinicians in clinical care and PhD students and postdoctoral fellows engaged in research related to amyotrophic lateral sclerosis (ALS) across Canada.

Dr. Hussein Ghazale is the recipient of a $165,000 ALS Canada – Brain Canada 2022 Trainee Award. After finishing his PhD in France, Dr. Ghazale moved to Canada to work with Dr. Carol Schuurmans at Sunnybrook Research Institute. Her team examines if neuronal reprogramming could serve as a potential treatment strategy for neurodegenerative diseases, including ALS.

PhD student Lucia Meng Qi Jadon (previously Liao) is the recipient of a $75,000 ALS Canada – Brain Canada 2022 Trainee Award. She will use the funding to investigate whether a newly discovered tag on TDP-43 might have an important role to play in ALS.

Charlotte Manser is the recipient of a $75,000 ALS Canada – Brain Canada 2022 Trainee Award. As a PhD student at the University of Ottawa, she investigates how ALS-linked genes might contribute to the loss of normal stress granule formation.

ALS researchers from around the world continue to build upon existing work and make new discoveries in the hopes of realizing a future without ALS. In the October 2023 Research Update, you’ll learn about advances in understanding the presymptomatic stage of ALS, new guidelines for genetic testing and counselling, an experimental cell replacement strategy, new insights into cellular pathways disrupted in ALS, and more.

Donovan McDonald is the recipient of a $75,000 ALS Canada – Brain Canada 2022 Trainee Award. As a PhD student, he investigates how the function of tRNA could contribute to ALS disease processes.

Dr. Philip McGoldrick, a researcher at the Tanz Centre for Research in Neurodegenerative Diseases at the University of Toronto, is the 2022 recipient of a $250,000 ALS Canada – Brain Canada Career Transition Award.

Dr. Alex Parker, at the Centre de recherche du CHUM, Université de Montreal, is one of the first two recipients of the newly introduced three-year, $300,000 ALS Canada-Brain Canada Discovery Grant. Dr. Parker’s grant was funded in generous partnership with Dr. Jean-Pierre Canuel Fund – SLA Québec.

Dr. Gary Shaw is a biochemist at Western University and one of the nine ALS Canada-Brain Canada Discovery Grant recipients for 2022.