Western Australian Department of Health

2013

• 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

2012

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

2011

• 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

2010

• 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