Researchers at The University of Queensland have contributed to the discovery of three new genes that increase the risk of motor neuron disease (MND), opening the door for targeted treatments.
Professor Naomi Wray from the Queensland Brain Institute's Centre for Neurogenetics and Statistica Genomics was involved in the data analysis as a part of an international study of more than 30,000 people.
“These three new genes open new opportunities for research to understand a complex and debilitating disease which currently has no effective treatments,” Professor Wray said.
“Crucially, we hope Australian patients will be included in the next phase of the study, thanks to funds raised by the Ice Bucket Challenge.”
A team of researchers, including Professor Wray, was awarded a $1.05 million MND Australia Ice Bucket Challenge Grant last year.
“We’re very hopeful that in the next phase of discovery, as sample sizes with measured DNA increase, we’ll discover more genes associated with MND,” Professor Wray said.
Majority of MND diagnoses come out of the blue
More than 1400 Australians have MND (also known as ALS, which is a subtype of the disease). Nerve cells controlling the muscles that enable us to move, speak, breathe and swallow begin to degenerate and die, and the average life expectancy is two to three years.
More than 90 per cent of patients have sporadic MND, where diagnosis of the disease comes out of the blue, without previous family history or any identifiable causes.
This latest research has increased the number of genes known to be associated with sporadic MND from one to four.
The Motor Neuron Disease Research Institute Australia has funded the next phase of the research – the establishment of the Sporadic ALS Australia (SALSA) consortium, which has implemented identical data and DNA collection protocols in all the major MND clinics in Australia.
“The consortium paves the way for Australians with MND to join the international efforts in genetic discoveries as a step towards penetrating the complexity of this terrible disease,” Professor Wray said.
The study is published in Nature Genetics.