198th ENMC international workshop on myotubular/centronuclear myopathies (MTM/CNM)

This article about the 198th ENMC international workshop on myotubular/centronuclear myopathies first appeared in the Information Point newsletter Our World in 2013.

198th ENMC workshop

At the beginning of June 2013, the European Neuromuscular Centre (ENMC) (an international organisation facilitating communication amongst scientists and clinicians working in the area of neuromuscular disease) sponsored a conference on myotubular and centronuclear myopathy, the first for our condition since 2009. Leading researchers from all over Europe and the US presented and and we were really delighted to be there to see the collaboration and the sharing of ideas and information between them all.

It was incredibly reassuring to see how closely they are all trying to work together. None of us can be unmoved by the following line from the conference lay summary: “Since the most recent ENMC workshop on MTM/CNM in 2009, the field has seen an exponential increase in knowledge concerning these conditions, with therapy development becoming an increasingly realistic prospect”.

Sessions included a workshop focused on already known forms of MTM/CNM, in particular those due to mutations in the MTM1, DNM2, BIN1 and RYR1 genes and more recently recognised disorders identified through systematic application of powerful novel genetic techniques.

Further sessions concentrated on the current understanding of disease mechanisms, as studied in cells and animal models including zebrafish, mouse and dog, which have been shown to faithfully replicate many aspects of MTM/CNM in humans. The results of experimental therapeutic approaches in animal models of MTM/CNM were presented, with a particular view to their potential applicability in humans affected by these disorders and the final session summarised the current state of the tools needed, including patient registries and studies of the natural history of the disorders, to translate recent insights derived from animal studies into therapy development of direct benefit for patients.

Lastly, the importance of joint international efforts for the study of rare conditions such as MTM/CNM was emphasized, and plans for further collaborations and meetings were drafted.

 

ENMC workshops

The Information Point newsletter Our World has written about ENMC workshops on several occasions. You can read the reports below and view the full reports on the ENMC website.