A collaborative network would allow large cohorts of patients to be included in gene discovery, screening and linkage studies, as part of a research work-up to underpin diagnostics, registries and clinical trials.

The research network will continuously advance the knowledge of neuromuscular disorders, communicate this effectively, keep pace with new technology and ensure there is no duplication of effort.

It is through research effort, for example, that the introduction of next generation sequencing and the analysis of large data sets (informing diagnosis and inclusion in registries) will be developed for translation into diagnostic laboratories.

ANN aims to:

  1. Through the Clinical Care Network, circulate information relating to any research collaborative studies that people may wish to collaborate on and contribute patients to
  2. Determine what genes are being tested and where and make the information available via the network
  3. Work with Diagnostic Network to develop protocol for incorporating diagnostic tests developed in research laboratories into diagnostic laboratory workup
  4. Develop Australia-wide ethics and consent procedures for patient involvement in research-based studies
  5. Facilitate establishment of patient registries and databases for rare disorders
  6. Link up with and take advantage of TREAT-NMD tools and infrastructure wherever appropriate (e.g. animal model Standard Operating Procedures, therapeutics advisory committee, outcome measures research and validation, registry of outcome measures, training opportunities, care and trial sites registry – see attachments).

If you have any issues you wish to raise, please feel free to contact Prof Kathryn North (Chair, Research Steering Group)