Auckland scientists are celebrating an important breakthrough after zeroing in on a rare genetic mutation causing motor neurone disease.
Their work is now being published in the journal Brain. National Correspondent Amanda Gillies spoke to the lead scientist.
Doctor Emma Scotter carefully crosses her lab, holding a delicate glass slide featuring a smudge of light blue matter.
"This is brain tissue, it's been stained to see where the proteins lie," she told Newshub.
Human brain tissue - it's precious and invaluable. And more than 40 Kiwis and international patients, many who died from motor neurone disease (MND), have generously donated theirs to Dr Scotter, head of the Motor Neurone Disease Research Lab in Auckland.
It's led to a medical breakthrough.
She and her team at the University of Auckland have figured out how to tell the difference between harmful and harmless mutations of a rare gene causing the disease.
"I would say it's a breakthrough in understanding the genetic code," said Dr Scotter. "So, we're really excited that you can now look in the tissue and understand what went wrong. "
So, for those who have a genetic test that gives a red flag for the gene, it can be determined whether they're at risk of MND or not.
Work towards a treatment, which would eliminate rogue versions of the gene, is now underway in Dr Scotter's lab.
She's also working with 'live' patients, who donate blood to test their genes to determine a genetic cause.
"That's what people really want to know - 'what does it mean for my children? Are they at risk?'" she said.
"In one case we have been able to go back to the family and say, 'we found the cause of your motor neurone disease', and the family were able to be tested and the younger generation could have a baby born free of that gene."
She described it as the most amazing and heartwarming experience from their genetic testing.
"Being able to change the fate of a family, no longer passing down this gene and the risk of motor neurone disease. The whole room was in tears."
About 400 Kiwis are today living with MND. In about 90 percent of cases, there's no known history, the rest are known to be inherited.
Scientists have linked 35 genes to the disease and believe environmental toxins play a role.
What's not in doubt is the disease can be brutal.
"People lose the ability to move everything, including the muscles of breathing. From diagnosis to death is about two years - total three years from onset, that's average."
She now hopes her work will continue to provide important pieces in the giant puzzle of MND.
