Last night, Professor Steve Wilton and Professor Sue Fletcher were awarded the NSW Health Jamie Callchor Eureka Prize for Medical Research Translation. The pair have developed a breakthrough therapy for children living with Duchenne Muscular Dystrophy (DMD).
"Duchenne Muscular Dystrophy is a condition caused by mutations in the dystrophin gene on the X chromosome, meaning that it mostly affects boys," said Professor Fletcher.
"The progressive degeneration of muscle means that DMD patients are wheelchair dependent by age 12, and may not live beyond their mid-20s."
The new drug works by "skipping over" the faulty part of the gene message, so that it can produce a functional version of the protein dystrophin. This protein stabilises the muscle fibre during muscle contraction. Without dystrophin, muscle fibres are susceptible to damage and are replaced by scar tissue.
Clinical trials of the drug have yielded some remarkable results.
"It must be close to 90 weeks now, that the boys in the trial have been on the drug. In that time, most of the boys would have been expected to be off their feet," said Professor Wilton.
"We’re receiving videos showing how these kids are tracking, using pedal cars, walking up a hill, even whistling."
Described as the "Oscars of Australian Science", the Eureka Prizes reward excellence in research, leadership, education and communication.
Professor Fletcher said she is thrilled to see children benefiting from the research.
"To see a real outcome in terms of a change in people’s lives is enormously gratifying," she said.
CCG Director Professor Matthew Bellgard said he was delighted that the pair's work had been recognised by the prestigious award.
"Professors Wilton and Fletcher are indeed worthy of this accolade, which highlights their success in world leading research in molecular therapies and personalised medicine."