Multiple sclerosis is a deeply personal disease. No two people experience MS in exactly the same way, and while the underlying autoimmune event that attacks myelin is consistently at the core of the MS disease process, the signs, symptoms, and progression of the disease can vary enormously from person to person.
In the same vein, every person living with MS responds to treatments in her or his own way. A little over twenty years ago, there were no therapies available that could alter the course of the disease and reduce the number of relapses and brain lesions; today, 11 disease-modifying therapies are approved for relapsing-remitting MS in Canada with several others in the pipeline. A wide selection of disease-modifying therapies is ideal in that it means more options that can manage the individual needs of people living with MS. Despite the crucial advancements in treatment options for MS, some people do not respond to the treatments that are available, which again speaks to the varying nature of the disease.
Jennifer Molson, a participants in the Canadian BMT Trial (Credit: The Ottawa Hospital)
Ongoing research is helping to expand the arsenal of treatment options for MS, while placing greater emphasis on a more personalized approach to treating the disease. The publication of the results from the Canadian Bone Marrow Transplantation (BMT) Trial in The Lancet represents the culmination of an extensive and collaborative effort funded by the MS Society of Canada’s affiliated Multiple Sclerosis Scientific Research Foundation (MSSRF) to identify a potential treatment for MS involving stem cells. The trial involved a procedure in which selected volunteers living with MS were given high-dose chemotherapy to dismantle the disease-causing immune system, followed by transfusion of their own stem cells to rebuild a healthy immune system that no longer attacks myelin. Given the risks associated with the procedure, individuals who were selected for the trial were those experiencing highly aggressive, inflammatory relapsing-remitting MS that did not respond to available treatments.
Our understanding of the genetic basis of multiple sclerosis has taken off over the past few years. Admittedly, the first link between MS and our genes was made in the early 1970s when scientists identified a set of immune-related genes that they found to be associated with an increased risk of MS. However, it wasn’t until the last ten years that a combination of advances in genetic sequencing technology, the bringing together of large population datasets, and bolstered by insights from the genetic blueprint constructed by the Human Genome Project, really put MS genetics on the map. Today, researchers to date have discovered over 100 genetic variants that have been linked to an increased risk of MS, and the overwhelming majority of these variants contain instructions for making proteins that influence the immune system. Individually, these variants only influence risk by a very small degree, and researchers are continuing to piece together the ways in which these genes interact and how they’re influenced by the environment to build up to a tipping point for triggering MS.
At the same time that scientists have been searching for genetic risk factors for MS, another story has been gradually unfolding since the 1980s looking at how MS is inherited within families. A pioneer in this field is Dr. Dessa Sadovnick from the University of British Columbia, who’s devoted her career to answering the question of why and how MS appears to cluster among relatives in certain families. Her early studies gathered enough evidence to build a strong case for receiving a $2.2 million grant by the MS Society and its affiliated MS Scientific Research Foundation to fund The Canadian Collaborative Project on Genetic Susceptibility to Multiple Sclerosis (CCPGSMS). A crucial outcome of this project was the development of one of the largest and richest MS genetic databases in the world encompassing over 30,000 people with MS and their relatives from 15 MS Clinics across Canada.