Leigh Waddell, PhD student (3rd Year)
The HGSA travel grant allowed me to visit and spend time at the Newcastle Muscle Centre – the UK national reference centre for Limb-Girdle Muscular dystrophies as well as the Dubowitz Neuromuscular Unit – reference centre for Congenital Muscular Dystrophies and Congenital myopathies. The UK Department of Health National Specialist Commissioning Advisory Group (NSCAG) has appointed four centres of excellence for the diagnosis and management of inherited muscle diseases which are supported by the British Muscular Dystrophy Campaign. Australia does not have centralised diagnostic services for the inherited muscle diseases, but is currently in the process of developing a proposal for the coordinated approach to the diagnosis of muscular dystrophies throughout Australia. This trip has enabled me to incorporate the positives and learn from the negatives of the British network into the planning of the upcoming Australian network, applying the most up to date practises to our service and streamlining the setup phase.
The comparison of British and Australian diagnostic services for inherited muscle diseases will make up an important part of my PhD thesis titled ‘To apply evidence based practice to optimise the laboratory diagnosis of muscular dystrophies’.
The travel grant also facilitated my attendance at the 2010 Summer School of Myology. This is an intensive ten day training course addressing most aspects of muscle disease from basic science, to cutting-edge therapies as well as clinical and genetic approaches to diagnosis and research into muscle disease. Attendance at this summer school has provided me with world class training in genetic muscle diseases, assisting me in both the completion of my PhD and my current and future career of Muscular Dystrophy Diagnosis, which I can apply in the proposal and setup of the Australian genetic muscle diseases diagnostic network.
The combination of the Summer School of Myology with the English Muscular Dystrophy Diagnostic Service visits has allowed me to bring back the most up to date knowledge and expertise into both muscle disease and its diagnosis, overall contributing to advancing the human genetics field of muscle disease within Australasia.
