Western Australian Department of Health


  • Development of Fascioscapulohumeral Dystrophy Registry
  • 3-Dimensional Syndromic ear analysis (3D-SEA)
  • SeqNextGen: Translating NextGen sequencing for the diagnosis of developmental anomalies and rare diseases
  • To identify epigenetic biomarkers of congenital heart defects in a family based epidemiology study
  • New uses for old drugs: repurposing treatments for childhood brain cancers
  • Quercetin supplementation in adolescents with familial hypercholesterolaemia (FH)
  • Viral Therapy for ACTA1-based Nemaline Myopathy
  • The investigation of Genotype-Phenotype Relationships in Rett Syndrome
  • Discovering modifier genes for neuromuscular disease severity


  • Scoping document for a Paediatric Multiple Sclerosis and Demyelinating Disease Database
  • Testing novel therapies using paediatric brain tumour models


  • Familial Hypercholesterolaemia Registry: Bespoke design for workflow and index case initiated family tree module
  • Duchenne muscular dystrophy clinical trial: antisense oligomers
  • Suppression of DUX4 protein expression by antisense strategies
  • Upregulation of cardiac actin to treat skeletal actin disease
  • Cardiac actin regulation for actin nemaline myopathy
  • Investigation of Candidate Proteins for Sporadic Inclusion Body Myositis
  • Genome-wide mapping of modifying loci in Familial ALS
  • Whole genome amplification and PCR screening of a Western Australian cohort of 97 familial and sporadic ALS patient DNA samples


  • Development of a Duchenne Muscular Dystrophy data registry
  • Develop a user interface and data registry for Spinal Muscular Atrophy
  • Scope and design of a new web-based registry: WA Registry of Developmental Anomalies (WARDA)
  • Development of a prenatal diagnostic testing registry
  • Evaluating the economic and health advantages of an intensive rehabilitation program for children with cystic fibrosis in Western Australia
  • Antisense Oligonucleotide suppression of DMD
  • Reducing the severity of DMD by redirected pre-mRNA splicing
  • In vitro drug screening: re-activating cardiac actin to treat skeletal muscel actin diease
  • Control of CD30 expression in Anaplastic Large Cell Lymphoma
  • Modulation of apoptosis by cytomegalovirus: analysis of new mechanisms to interfere with cytomegalovirus-induced disease
  • Investigation of genotype-phyotype relationships in Rett syndrome
  • The characterization of deregulated microRNA expression in paediatric brain tumors
  • Screening FDA approved drugs for possible treatment of skeletal muscle actin diseases.
  • The role of IL-6 family proteins in the pathogenesis of pulmonary fibrosis in patients with systemic sclerosis
  • Discovery of novel genes causing motor neuron disease
  • The role of galectin-1 in myogenic conversion of stem cells and stem cell mediated therapy for neuromuscular disease
  • Blocking proinflammatory cytokines to reduce necrosis of dystrophic muscle
  • Immunogenic determinants of Kawasaki disease and atherosclerosis