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UBC scientists find link between gene mutation and multiple sclerosis

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UBC scientist identifies gene mutation in MS patients
WATCH: One researcher at the University of British Columbia is on a mission to prove multiple sclerosis is caused by a genetic mutation. Now she's made a significant discovery that could be a game-changer for future treatment – Jun 1, 2016

When Dessa Sadovnick was a young professor in the 1980s, pushing her theory that genetics might play a role in multiple sclerosis, she encountered much resistance.

“About two minutes into [a] talk, the immunologist who was chairing the meeting yelled up to me and said, ‘We’re running late, we want coffee, I’m giving you another couple of minutes and then get off.'”

But decades of research — using blood samples from thousands of people with MS — has vindicated Sadovnick.

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Today, she is a professor at the University of British Columbia, where her biobank has been used for many research papers. One, published today in the journal Neuron, shows that the primary progressive form of MS, which accounts for 15 per cent of people with the disease, can be caused by a single mutation.

“I was the over the moon really. This is one of the biggest findings ever for MS,” said senior author Carles Vilariño-Güell, an assistant professor of medical genetics at UBC.

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“This one mutation opens a ton of doors to really tackle the causes of the disease.”

The discovery could lead not only to better treatments, but to finding ways to stop the disease before symptoms develop.

“I’m hoping this will be very beneficial for not only people who have MS, but also for their families, their communities, and their friends,” said Sadovnick.

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