European collaboration in research into rare diseases: experience of the European Neuromuscular Centre

摘要

An understanding of the possible causes, prevention and treatment of rare, so-called ‘orphan disease’ requires collaboration in research between different centres with the sharing of information. In the case of neuro-muscular disorders (such as muscular dystrophies or hereditary neuropathies) this has been achieved through European collaborative research encouraged and facilitated by the European Neuromuscular Centre (ENMC). The successful example of ENMC provides a model for the investigation of other rare ‘orphan’ disorders or even rare problems occurring in common disorders.