CRE in Neuromuscular Disorders — 2012–2016 (archived)

Impacts

• Enhanced Diagnostic Accuracy: By 2013, the CRE-NMD reported that standard clinical work-ups diagnosed approximately 65 percent of patients, while its new genomic technologies provided answers for an additional 30 percent.
• Gene Discovery and Innovation: The center identified over 100 novel disease genes and established large, unique patient cohorts using next-generation sequencing.
• National Clinical Trial Framework: CRE-NMD established Australia as a leader in Phase II and III clinical trials for conditions like Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA).
• Resource and Registry Development: It facilitated the creation of the Australian Neuromuscular Disease Registry (ANMDR), which as of 2024–2026 continues to collect vital medical and genetic data to accelerate therapy development.
• Standardized Care Guidelines: The center pioneered world-first management guidelines for Charcot-Marie-Tooth (CMT) disease, specifically addressing hip, vision, and hearing issues in children. 
  
  

Long-term impacts

• Workforce capacity: The initiative developed a nationally integrated training program for medical, science, and allied health professionals, ensuring a future leadership pipeline for neuromuscular research.
• Institutional legacy: The collaborative networks established during its tenure (2012–2016) were sustained through the Australasian Neuromuscular Network (ANN), ensuring ongoing coordination of research and clinical practice across Australia.
• Equitable access: By engaging every Australian state, the CRE-NMD ensured that patients nationwide gained equal access to state-of-the-art therapies and specialized diagnostic frameworks.
  
  

Notable projects

• Duchenne muscular dystrophy (DMD): Trials included gene-based therapies, nutritional supplements, and drugs like Ataluren to restore muscle function.
• Spinal muscular atrophy (SMA): Enrolled infants in international drug trials to evaluate early treatment outcomes.
• Charcot-Marie-Tooth disease (CMT): Investigated new therapies and genetic causes.
• Muscle tissue modelling: Used patient-derived cells to study disease mechanisms and test treatments.
• Quality of care studies: Explored interventions such as calf massage, sleep assessments, and patient surveys to improve care delivery.

Diagnostic approach to the congenital muscular dystrophies. 2014 Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, Béroud C, Mathews KD, Moore SA, Bellini J, Rutkowski A, North KN. Diagnostic approach to the congenital muscular dystrophies. Neuromuscular disorders : NMD 24 (4) : 289 - 311(2014) PubMed PDF

5q31.3 Microdeletion syndrome: Clinical and molecular characterization of two further cases. 2013. Brown N, Burgess T, Forbes R, McGillivray G, Kornberg A, Mandelstam S, Stark Z. 5q31.3 Microdeletion syndrome: Clinical and molecular characterization of two further cases. American journal of medical genetics. Part A (2013) PubMed

A new locus for X-linked dominant CharcotMarieTooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. 2013.Kennerson ML, Yiu EM, Chuang DT, Kidambi A, Tso SC, Ly C, Chaudhry R, Drew AP, Rance G, Delatycki MB, Zuchner S, Ryan MM, Nicholson GA. A new locus for X-linked dominant CharcotMarieTooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. HUMAN MOLECULAR GENETICS 22 (7) : 1404 - 1416(2013) PubMed

Clinical features and disease course of patients with juvenile dermatomyositis. 2013. Gowdie PJ, Allen RC, Kornberg AJ, Akikusa JD. Clinical features and disease course of patients with juvenile dermatomyositis. INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES 16 (5) : 561 - 567(2013)

High resolution chromosomal microarray in undiagnosed neurological disorders. 2013. Howell KB, Kornberg AJ, Harvey AS, Ryan MM, Mackay MT, Freeman JL, Rodriguez Casero MV, Collins KJ, Hayman M, Mohamed A, Ware TL, Clark D, Bruno DL, Burgess T, Slater H, McGillivray G, Leventer RJ. High resolution chromosomal microarray in undiagnosed neurological disorders. JOURNAL OF PAEDIATRICS AND CHILD HEALTH (2013) PubMed

The CRE-NMD was a significant collaboration that included researchers from institutions such as the Murdoch Children's Research Institute and The Royal Children's Hospital Neuromuscular Clinic.

It worked closely with the Australasian Neuromuscular Network (ANN) to ensure research outcomes were translated into practice. The initiative received substantial funding from the National Health and Medical Research Council (NHMRC).

• Professor Monique Ryan – Paediatric Neurologist (former lead, now Federal MP)
• Associate Professor Kristi Jones – Neurologist and clinical researcher
• Dr Ian Woodcock – Clinical geneticist
• Dr Michelle Farrar – Paediatric Neurologist
• Professor Kathryn North – Clinical geneticist and research leader
• Professor John Christodoulou – Geneticist and translational researcher
• Dr Jane Farrar – Molecular geneticist
• Dr Michelle D’Souza – Neurologist and researcher