Bold researcher drives global discourse on rare autoimmune disease

Canadian PBC Society's researcher of the year hopes to reduce transplant need with novel antiviral treatment.

Kirsten Bauer - 29 August 2017

In 2015 Andrew Mason confirmed the existence of a human betaretrovirus in patients with Primary Biliary Cirrhosis (PBC) after years of investigating the contentious topic. Mason had long suspected that PBC, an autoimmune disease of the liver that has traditionally been treated with immunosuppressant drugs, is triggered by the virus.

The discovery marked a turning point in the scientific discussion around PBC and challenged entrenched ways of thinking of the disease. Mason's efforts have now led to the University of Alberta scientist being named outstanding researcher of the year by the Canadian PBC Society in February 2017.

"It's still considered controversial and a little bit out there," said Mason, the co-director of the Centre of Excellence for Gastrointestinal Inflammation and Immunity Research and the director of the U of A's Applied Genomics Core. "We originally published the initial viral linkage in 2003, and in 2004 someone replicated the study and got different results, so the controversy started."

With his findings now validated, Mason seeks to drive attention to new possibilities of treatment. As the primary researcher pursuing antiviral treatment worldwide, he spends much of his time sharing his findings with colleagues internationally. Despite his efforts, he finds some remaining skepticism makes it difficult to be heard.

Opposition from members of the research community stems from many years of researching immunosuppressant drug therapy. According to Mason, the drugs have harsh side effects and little impact on PBC patients, which helped drive his curiosity about the underlying cause of the disease.

"There are certain areas of medicine that intuitively don't make sense and you know that something is going on. And you find you're pulled towards these areas because you know there's something there," said Mason, also the director of research for the U of A's Division of Gastroenterology. "Why should the body's immune system attack itself? It just doesn't make sense."

With one in 1,000 people affected, PBC is considered to be a rare disease. According to Mason, his research could also shed light on a host of other autoimmune disorders.

"This is sort of generative. If you find a virus associated with one disease, people will use that and apply some of those techniques to other diseases and eventually develop a treatment. That's really what it's all about."

Mason is now exploring antiretroviral therapy to treat his patients. The prospect of a working treatment and preventing liver transplants has already attracted several from Europe, the US, and across Canada. With the growing excitement, Mason recognizes there are still many challenges to overcome.

"We've got patients who've responded to treatment, and my major annoyance now is that I can't give it to them because even though I can prescribe a drug, the patients can't afford it," said Mason. "It's monumentally annoying."

The next steps for Mason's team involve a clinical trial to prove that the drugs are working.

"If we can show the government it really works then they will be willing to cover the drug. So that's what we're working on now. We're not out of the woods yet."