Kids Neuroscience in partnership with the Australasian Neuromuscular Network invites you to the annual ANN meeting. This year promises an impressive program with updates in genomics, clinical care and diagnostics. This meeting brings together clinicians, allied health, scientists and students in the neuromuscular field, enhancing collaborative research and shared expertise. Program highlights include international and national […]
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Recruitment request: SMA patient and family study
The Centre for Community-Driven Research (CCDR*) are partnering with SMA and MD organisations in Australia to conduct a study to understand the experience of those affected by SMA and their needs in relation to future treatment, support, care and information. This study will result in a report that we can all use for future advocacy […]
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Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases
This study demonstrates the cost-effectiveness of investigation using massively parallel sequencing technologies in paediatric muscle disease. The findings emphasise the value of implementing these technologies in clinical practice, with particular application for diagnosis of Mendelian diseases, and provide evidence crucial for government subsidy and equitable access. Please click for the full paper
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Lifeline for Pompe disease patients
RCH clinicians have worked with the Australian Pompe Association, drug company Genzyme and the Federal government to achieve government-subsidised treatment for late-onset Pompe disease. 12-year-old patient Christian Rivera received his first infusion at the RCH last week. The federal government has listed the only registered treatment for Pompe disease, Myozyme (alglucosidase alfa), on the Life […]
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