WA Innovator of the Year research scientists join rare diseases team

April 10, 2013

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Prominent molecular geneticists Professor Steve Wilton and Professor Sue Fletcher from the Australian Neuromuscular Research Institute have joined Murdoch University’s Centre for Comparative Genomics (CCG) to continue their award-winning research into therapies for rare diseases.

Their research was recently recognised with the 2012 Mitsubishi Corporation WA Innovator of the Year Award for their pioneering work on ‘exon skipping’ as a therapy for boys with Duchenne Muscular Dystrophy (DMD).

DMD is a genetic disorder caused by mutations in the dystrophin gene that prevent the production of dystrophin protein, a key element in muscle function and strength. The relentlessly progressive condition leads to muscle degeneration, weakness and eventually death, usually before the age of 30.

Professor Wilton said exon skipping was a novel approach that allowed the muscle cells to by-pass the cause of the disease and that strategies similar to those developed for DMD could be applied to a range of rare diseases.

“Our innovation involves the development of an RNA-like ‘antisense’ molecule that acts as a genetic bandaid to mask the mutated section of the gene transcript that causes DMD,” Professor Wilton said.

“Skipping the problematic part of the gene message allows the muscle to make a shorter but still functional form of dystrophin.”

Currently in clinical trials in the USA, their therapy appears to significantly reduce disease progression and has shown no treatment-related adverse effects in DMD boys who have been receiving weekly doses of the drug for over 74 weeks.

Professor Fletcher said she and Professor Wilton were thrilled to be joining the CCG and its evolving rare diseases initiative, which includes building data registries to allow researchers globally to share information.

“Rare diseases affect around one in 12 Australians, but there are over 6,000 known rare diseases, which means often there are only a handful of men and women with a disorder,” CCG Director Professor Matthew Bellgard said.

“As a result, there is a lack of resources and research for individual rare diseases. But because the majority are genetic in origin and may have common mutation types, we believe therapies such as that of Professors Wilton and Fletcher can be exploited as a general platform for personalised medicine.

“The CCG looks forward to supporting their research and continuing our work with local, national and international collaborators on raising awareness and finding treatments for rare diseases.”

Professor Bellgard said the CCG in coordination with WA Health were committed to supporting the International Rare Disease Research Consortium’s (IRDiRC) mission to deliver 200 new therapies and develop means to diagnose the majority of rare diseases by 2020.

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