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26.6.13 ENMC 2013: International Collaboration At Its Best In Europe!

At the beginning of June, the ENMC (European NeuroMuscular Centre - 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.

The 198th ENMC meeting report has now been published in Neuromuscular Disorders.

The meeting involved 21 participants (including basic scientists, clinicians, patients and industry representatives) from different countries. The meeting promoted collaboration, and the sharing of ideas and information between them all regarding myotubular and centronuclear myopathy.



The first session of the workshop focussed on already known forms of MTM/CNM, in particular those due to mutations in the MTM1, DNM2, BIN1 and RYR1 genes, and more recently recognized 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 - faithfully replicating 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. The final session summarized the current state of the tools needed – 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.

For more information see http://www.enmc.org/workshops/workshop-reports/centronuclear-myopathies

Attendees (in alphabetical order):

Dr Alan Beggs, Harvard Medical School

Dr Valerie Biancalana, Laboratoire de Diagnostic Genetique, Strasbourg

Dr Marc Bitoun, INSERM, Paris

Dr Anna Buj-Bello, Genethon

Professor Martin Childers, University of Washington

Dr James Dowling, University of Michigan

Dr Edgar Gomes, Group Myologie, Paris

Dr Heinz Jungbluth, King's College, London

Dr Hal Landy, Valerion

Dr Jocelyn Laporte, IGBMC, France

Anne Lennox, Myotubular Trust

Dr Eva Masiero, King's College, London

Matthew Patterson, Audentes

Professor Richard Piercy, Royal Veterinary College, London

Deborah Ramsdell, Valerion

Dr Norma Romera, Institut de Myologie, Paris

Dr Laurent Servais, Institute de Myologie, Paris

Professor Caroline Sewry, Dubowitz Neuromuscular Centre, London

Melanie Spring, Myotubular Trust

Dr Laurent TIret, Alfort School of Veterinary Medicine, France

Dr Carina Wallgren-Pettersson, University of Helsinki and Folkhalsan

Professor Dominic Wells, Royal Veterinary College, London

You can read about the 2009 ENMC meeting here.