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Publications of the Week

Genetic Modifiers of Multiple Sclerosis Progression, Severity and Onset

By May 29, 2017No Comments

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 This week we profile a recent publication in Clinical Immunology from the laboratory
of Dr. Carles Vilarino-Guell at the Djavad Mowafaghian Centre for Brain Health.

Can you provide a brief overview of your current research focus?

The focus of our research is to discover pathogenic mutations leading to the onset of multiple sclerosis in multi-incident families, and the identification of genetic modifiers of disease course and severity. We envision the identification of functionally relevant genetic determinants in multiple sclerosis to define the molecular etiology of disease, provide an immediate means for accurate risk evaluation and early disease diagnosis, reveal novel targets and biomarkers for therapeutic intervention trials, highlight direct avenues for the creation of etiologic in vitro, ex vivo and in vivo models, and to provide the rationale for high throughput assays to identify novel therapeutics to better treat this common disease.

What is the significance of the findings in this publication?

The publication in Clinical Immunology was the first step towards the identification of genetic modifiers of disease course and severity. In this study we identified genetic variants which affect the presentation of multiple sclerosis (primary progressive vs relapsing remitting), genetic variants which exacerbate clinical symptoms, and genetic changes which can delay the onset of disease.

Briefly, what are the next steps for this research?

This study was a pilot based on 100 patients, the goal now is to secure additional funding to be able to extend this study and to validate the current findings. After confirmation, these discoveries will be used for the generation of cellular models in which to study the biological mechanisms leading to the onset of multiple sclerosis with the goal of developing treatments to delay the onset of disease and reduce the burden of clinical symptoms on patients.

This study was supported by:

This study was funded by Novartis Pharmaceuticals Canada, Canada Research Chair program, Canadian Institutes of Health Research, Vancouver Coastal Health Research Institute, Mulan & Maureen Ilich foundation, and the Vancouver Foundation.

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