Canadian discovers genetic mutation linked to severe MS in two families

Stuart SchlossmanMS Genetic Research

                                                                  


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June 2, 2016

When Canadian scientist Dessa Sadovnick started her career, the idea that genes played a role in multiple sclerosis was almost heretical and her PhD supervisor even urged her to abandon her research on the topic.
Four decades later, it is widely accepted that genetics are important in MS, partly due to Sadovnick’s pioneering work.
And, on Wednesday, she and her team published their latest genetic discovery: a single mutation linked to severe MS in seven members of two Canadian families.
The study authors believe they have found the first gene mutation to cause a rare and inherited form of MS, though this finding needs to be replicated by further studies.
The findings, published in the journal Neuron, reveal an exciting new clue for understanding the severest form of MS, which affects 15 per cent of patients, and this could, perhaps, pave the way for new treatments.



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