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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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ANN scientific meeting July 18th 2017

ANN Scientific Meeting, Royal Children’s Hospital, Melbourne, Tuesday 18 July 2017         Register Here   Program Outline BREAKFAST SESSION [Chair: Joshua Burns] 8:00 – 9:00 am           Allied Health & Nursing Alliance (AHNA members) 8:30 am                      Registration / Tea and coffee 9.15 am                       Welcome [Kathryn North and Joshua Burns] SESSION […]

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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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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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