214th ENMC workshop: establishing an international consortium for gene discovery and clinical research for congenital muscle diseases

This article about the 214th ENMC workshop first appeared in the Information Point newsletter Our World in 2016.

214th ENMC workshop

The 214th ENMC workshop entitled ‘establishing an international consortium for gene discovery and clinical research for congenital muscle diseases’ took place from between 16 – 18 October 2015 in Heemskerk, Netherlands.

26 participants took part in this workshop, including 22 clinical and researchers from France, the UK, Japan, Canada, Brazil, China, Turkey, Italy, the Netherlands, Australia and the USA, together with patient representatives from the Myotubular Trust, RYR1 Foundation and CureCMD.

Individually congenital muscle diseases are very rare but collectively, the diseases which include centronuclear and myotubular myopathy, represent a major subset of neuromuscular diseases, so the aim of the workshop was to address current barriers with the primary goal being to establish a consortium for the study of the genetics of congenital muscle diseases and deciding what the initial projects of the group should be.

 

 

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