Started with the project on exploring genetic defects in congenital myopathies, I reported for the first time that a variety of genetic defects in RYR1 gene were responsible for the wide clinical spectrum of congenital myopathies, and expanded the complex genotype-phenotype correlations. This study was followed by project on exploring the molecular basis of core myopathy awarded by Muscular Dystrophy Association (US). Further investigations on functional consequences of genetic defects in RYR1 gene, additional RYR1-related clinical features and novel molecular pathogenesis have since been reported.
  My research also focuses on developing novel molecular therapies for spinal muscular atrophy (SMA). The initial project was supported by Wellcome Trust on correcting pre-mRNA splicing in SMA by using antisense oligonucleotides (AON). Continual supports include Wellcome Trust Value in People grant and UCL Therapeutic Innovation Fund. A MRC collaborative project was awarded to develop the advanced peptide-conjugated AO therapy for SMA. Research grants were also awarded from SMA-Europe and GOSH charity to explore additional pathogenesis in SMA and identify novel therapeutic targets. 
  We are now developing AON therapies for Collagen VI-related muscular dystrophies supported by Muscular Dystrophy UK. Further support also comes from UCL/GOSH BRC to expand the application of AON technology into more genetic conditions and biomarker studies in SMA.