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Lead investigator

Collaborators & Co-Investigators

• Aoife Reilly
• Ariane Beauvais, M.Sc.

Research Sites & Affiliations

• Ottawa Hospital Research Institute, Ottawa, Ontario

Budget: $100,000

Disorders: Spinal Muscular Atrophy

Research Areas: Understand Diagnosis and Disorder Progression

Abstract: 

Current research in spinal muscular atrophy (SMA) focuses primarily on severe patients and on severe pre-clinical models. It is important to also cater research to milder patients who are already living with the disorder. Mild SMA has been challenging to model in mice for reasons that are not altogether clear. Therefore, a clear need exists in the field for a model to study the mild forms of the disease (SMA type III/IV). This proposal aims to characterize a novel mouse model generated in our laboratory to help study defects in mild SMA patients. It will allow for better characterization of molecular changes within skeletal muscle and motor neurons, and determine whether these differ in any way to those identified in the models of more severe SMA. The work will also assess whether biomarkers identified for the severe form of the disease will be useful in mild SMA.

This new model will allow for the understanding of the most susceptible pathogenic molecular changes in motor neurons, and investigation of the effects of SMN depletion in milder forms of the disease. In addition, it will also provide guidance for the currently aging SMA patient population treated with anti-sense oligonucleotides or gene therapy.

Collectively, the proposed studies will substantially inform the diagnosis, biology and treatment of mild SMA.

Impact: