Director of the Perron Institute for Neurological and Translational Science
Foundation Chair in Molecular Therapies, Murdoch University

Professor Steve Wilton graduated from the Biochemistry Department in the University of Adelaide with a PhD in Molecular Biology (1984) and spent several years working for biotechnology companies before joining the Australian Neuromuscular Research Institute in 1991, WA’s oldest established medical research institute. There he applied the latest (at that time) molecular biology techniques to mutation detection and mapping genes involved in neuromuscular conditions, with a particular focus on the dystrophin gene.

Mutations in this gene result in Duchenne muscular dystrophy (DMD), the most common and serious form of childhood muscle wasting.  Steve hypothesized that the rare dystrophin-positive fibres detected in some DMD patients arose from some natural “exon skipping” mechanism and undertook a systematic search for confirmatory dystrophin transcripts.  Steve’s “Eureka moment” was to use antisense oligonucleotides to target normal dystrophin splice motifs and redirect gene expression so that the disease-causing protein-truncating mutations were removed.

Steve has published more than 140 peer-reviewed papers and chapters in the areas of muscular dystrophy, exon skipping and inherited rare diseases, holds several patents and has an H-index of 46.  His research team was the first to report specific exon skipping in the mouse DMD model, publish the only panel of splice switching oligomers for every human dystrophin exon and demonstrate the clinical potential of morpholino oligomers chemistry.  They designed “Eteplirsen”, the lead compound now in extended Phase 2 and 3 clinical trials and are awaiting the FDA decision on accelerated approval.   This type of therapy is mutation specific and the antisense oligomers must be tailored to the patient’s dystrophin gene lesion.  Two other compounds have recently entered clinical trials (targeting different mutation types) and more clinical candidates have been developed to address other dystrophin mutations. Therapeutic alternative splicing will be applicable to many other genetic and acquired disorders, including spinal muscular atrophy, cystic fibrosis, and Pompe’s disease to name but a few.

Steve’s work has been recognized with the 2012 Western Australian Innovator of the Year award, the 2013 Australian Museum Eureka Award for Translational Medicine, the 2014 LabGear Australia Discovery award and recently, he was a finalist in the 2016 Western Australian of the Year (professions category).