Student’s new findings are shifting ideas on spinal muscular atrophy

Marc-Olivier Deguise is no stranger to spending time in hospitals. The combination of a peanut allergy and an overprotective mother meant he spent a lot of time with doctors when he was a kid.

While Deguise says his condition was easy to manage, spending the time in the hospital opened his eyes to the struggles other children were facing.

“There were a lot of kids that weren’t as lucky as I was… I had the sense at this point that I wanted to do something that would help children,” said Deguise. “Being in a hospital, medicine came out very quickly.”

Now, Deguise is doing a joint PhD-MD program at the University of Ottawa, and hopes to help children who are in the hospital with serious conditions. Working in Dr. Rashmi Kothary’s lab at the Ottawa Hospital, Deguise has been studying a genetic condition called spinal muscular atrophy that often targets very young children.

“Spinal muscular atrophy is a pediatric disorder that affects children, generally under two, and usually they die before their fifth birthday,” Deguise said.

Deguise has been working with the disease at Kothary’s lab for five years now, but it was during a routine process that he saw something he didn’t expect.

“It was just an observation as we were dissecting (mice) for a muscle project, I noticed that we couldn’t find the spleen and one of the immune organs,” he said. “When we looked closely, it was because the spleen was actually very small.”

This observation sparked a whole new project, where Deguise and the lab looked at different immune organs in mice.

Deguise’s recent findings will also have an impact on a long-running debate on the best way to treat spinal muscular atrophy.

“The central dogma of the (spinal muscular atrophy) community used to be, ‘let’s study motor neurons,’” he said. “But now a lot more people are accepting that there are problems in other organs… that was very fulfilling for us to see that people are slowly changing their train of thought.”

After Deguise published his results, he said that other members of the academic community came out with similar findings, adding credibility to his research. After this, Deguise said that he realized that his work would take on a larger role in the discussion on how to treat the disease.

“I was super happy,” said Deguise. “This was not going to be a study that a few people would hang on to and after a few years would just get forgotten.”

Deguise said that there will have to be more research into how this could affect humans, and that his lab is preparing to collaborate with clinicians to work with spinal muscular atrophy patients and study their spleens. “We’ll see whether our mouse models are telling the truth.”

He added that the he and others in Kothary’s lab are trying to identify what causes the smaller spleens he observed.

As for Deguise, he plans to become a doctor specializing in pediatrics or pediatric neurology. But he says research will always be a big part of his life.

“I am not letting research go,” he said. “You have a life question you’re trying to answer, it gives you a bigger goal.”