A pair of genetics researchers at Murdoch University have won a national prize after developing a breakthrough therapy for children living with Duchenne Muscular Dystrophy.
The university announced today that Steve Wilton and Sue Fletcher, of the Centre of Comparitive Genomics, had won the Australian Museum Eureka Prize.
Duchene Muscular Dystrophy is caused by mutations in a particular gene on the X chromosome, Professor Fletcher says, which means it mostly affects boys.
The researchers’ drug works by ‘skipping over’ mutations in the gene so it can produce functional proteins, which stabilise muscle fibre during contraction.
Without the dystrophin protein, muscle fibres can be damaged and replaced by scar tissue.
Professor Wilton said clinical trials over the past 90 weeks had produced remarkable results.
“In that time, most of the boys would have been expected to be off their feet,” he said.
“We’re receiving videos showing how these kids are tracking, using pedal cars, walking up a hill, even whistling.”
The prestigious Eureka prizes are considered to be the ‘Oscars of Australian Science’.