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.”