Genetic etiology of progressive multiple sclerosis

Multiple sclerosis (MS) is the most common cause of neurological disability in young adults, other than trauma, with over two million people affected worldwide. Approximately 100,000 Canadians have MS, a rate that is nine times higher than the global average. MS symptoms vary widely and may affect vision, hearing, cognition, balance, and movement; negatively affecting many aspects of quality of life. To date, there is no cure or prevention for MS. Although treatments to effectively manage the clinical symptoms of MS are available, they come with several serious and even life-threatening adverse effects; and over time, MS enters a progressive phase which no known therapies can prevent or treat. MS was originally considered an autoimmune disease triggered by exposure to environmental factors, but family studies (twins, adoptees, half siblings) have clearly demonstrated an important genetic component to the disease.

The goal of this research program is to define the genetic components contributing to the onset of MS to provide new tools for scientific investigation and the development of novel and more effective treatments. To this end, Dr. Vilarino-Guell will apply new gene sequencing technologies to over 100 families with several blood relatives presenting with MS, as well as thousands of unrelated individuals diagnosed with MS. Within the last year he has identified disease-causing genetic changes for some of these families, as well as biologically-relevant genetic changes which impact disease progression and the severity of clinical symptoms. These genes and mutations have highlighted specific biological pathways implicated in the onset of progressive MS.

This research will further characterize the genes involved in these cellular processes to better understand the biological mechanisms of progressive disease. The results of Dr. Vilarino-Guell's research will provide the knowledge and tools for the therapeutic advances in the prevention and treatment of MS, tackling its highly debilitating progressive phase which is currently untreatable.