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UPDATE ON SMA RESEARCH AND TREATMENT- AUSTRALIA

There has been a lot of activity in the clinical trial space for spinal muscular atrophy in the last 2 years. Nusinersen is an antisense oligonucleotide, or a short synthetic stretch of nucleic acid, that is designed to specifically bind SMN2 transcripts and “correct” SMN2 gene expression. Two hospitals in Australia- the Royal Children’s Hospital […]

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EOI: CMT Guidelines Scientific Advisory Committee

Development of Best Practice Guidelines for paediatric Charcot-Marie-Tooth disease The development of best practice guidelines, focusing on the clinical management of children with Charcot-Marie-Tooth disease (CMT) is currently underway, utilising a National Health and Medical Research Council (NHMRC) guided process (http://www.nhmrc.gov.au/guidelines/search). A call for members to join the Scientific Advisory Committee is now open. We […]

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INMR diagnostic meetings schedule

Please see below for dates of The Institute for Neuroscience and Muscle Research (INMR) at The Children’s Hospital at Westmead diagnostic meetings schedule. Genetic Muscle Disease Diagnostic Meeting: As we move away from tissue diagnosis towards genetic diagnosis, this forum is to discuss difficult cases and to pool thoughts on the interpretation of results (incorporating […]

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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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