Carles Vilarino-Guell

Canada Research Chair in Molecular Characterization of Neurological Diseases

Tier 2 - 2012-10-01
The University of British Columbia


Research involves

Applying next-generation sequencing technologies to identify the genetic causes of multiple sclerosis.

Research relevance

This research will lead to identification of the molecular pathways involved in multiple sclerosis, and will lead to better diagnosis of and treatments for the disease.

Unravelling the Genetics of Multiple Sclerosis

Multiple sclerosis is a very common disease, affecting more than 75,000 Canadians. Its symptoms, like fatigue, numbness and pain, greatly reduce the quality of life of sufferers. To date, there is no cure for multiple sclerosis. While treatments can manage its symptoms, they can result in serious, or even life-threatening, side-effects.
Dr. Carles Vilarino-Guell, Canada Research Chair in Molecular Characterization of Neurological Diseases, is focusing on identifying the genetic components in multiple sclerosis to in order better understand its causes. His clinic has collected more than 18,000 DNA samples from multiple sclerosis patients, including 1,300 families.

To identify inherited rare mutations that cause disease Vilarino-Guell is examining the genetic characterization of families in which several members have been diagnosed with multiple sclerosis. He is also analyzing patients with no family history of disease in order to identify common DNA changes that increase the likelihood of developing multiple sclerosis. To help him identify genetic components of multiple sclerosis, he is using the latest DNA sequencing technologies, which provide the most efficient and accurate method to discover disease-related mutations.

Vilarino-Guell’s research to identify the genes and mutations involved in the development of disease will lead to better diagnostic tools and models to study the cellular processes causing disease. It will also help in the development of new therapies that target the treatment of multiple sclerosis, and its prevention in future generations.