About MP

Author Archive | MP

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  

Read full story Comments are closed

Early Access Program for Nusinersen

Early Access Program for Nusinersen   There has been a lot of activity in the clinical trial space for the treatment of Spinal Muscular Atrophy (SMA) over the last two years, and Nusinersen, has been identified as the first effective drug to treat SMA Type 1.   Developed in California, Nusinersen (know in the USA […]

Read full story Comments are closed

CMT Gene Explorer now available!

Professor Joshua Burns, Dr Manoj Menezes and the Centre of Research Excellence in Neuromuscular Disorders have just released a new app for early career neurologists, medical trainees and clinicians looking to further understand the genetic basis of Charcot-Marie-Tooth disease (CMT).

Read full story Comments are closed

Update: evidence based guideline summary for FSHD

Getting the support you and your health profesionals need The Foundation is thrilled to release a range of educational toolkits for patients, GP’s and Allied Health Professionals. Our goal is to empower our community when championing for support within the medical world. In September 2015 FSHD Global convened a workshop of 13 leading international and Australian […]

Read full story Comments are closed