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Monday, September 30, 2013

Genetic variants discovery excites MS researchers

Simon Santow reported this story on Monday, September 30, 2013 


TIM PALMER: Scientists are hailing the discovery of 48 genetic variants which influence the risk of a person getting multiple sclerosis.

That doubles the number previously identified and increases the hope that the medical knowledge they provide will one day lead to a cure for the debilitating disease.

For a long time, the reasons why some people are susceptible to MS and others aren't has remained a puzzle.

This ground-breaking research is published today in the medical journal, Nature Genetics, as Simon Santow reports.

SIMON SANTOW: Full time Mum Emma Giunti is one of about 23,000 Australians living with MS. But the 37-year-old counts herself as relatively lucky.

EMMA GIUNTI: I call myself a bit of an MS phony because my symptoms are extremely minimal. After I was diagnosed, my symptoms went away, so the optic-neuritis just went away and I haven't had any symptoms since. 

SIMON SANTOW: The symptoms can vary enormously.

EMMA GIUNTI: The mystery about MS is that there's people like me who - it doesn't affect their daily life. And then you've got the other end of the spectrum, which you've got people who are in wheelchairs and then you've got everything in between that as well. 

SIMON SANTOW: Emma Giunti's biggest concern at the moment is a psychological one.

EMMA GIUNTI: When I'm, you know, if I'm in the kitchen chopping something up or I've got, holding something and you know I accidentally drop it, I think, oh gosh, is that MS related? So even something very small. I've had a couple of migraine auras which are when your eyesight goes a bit funny just for about 20 minutes, and it's a form of having a migraine. 

And my eyesight went and I did burst into tears and I thought, oh my god is this MS coming back? You think, well I could wake up tomorrow morning and not be able to get out of bed. I might not be able to see. And it's the what-ifs that, I don't, I try not to think about it too much because I'll just, you know you'll just freak yourself out. 

Yeah, I try not to think about it but that is the thing about MS, you never know what's around the corner. 

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