ACTIVITIES

International Symposium on Rare Diseases. Inherited Neuromuscular Diseases: Translation from Pathomechanisms to Therapies”.

From 16/11/2008 to 18/11/2008

General Information

Ten years ago Alan Emery wrote in the preface of Neuromuscular Disorders: Clinical and Molecular Genetics the following comments: “It has been estimated that more that one person in every 3000 has a serious disabling inherited neuromuscular disorder. The suffering caused by these disorders is considerable, but, until the last decade or so, virtually nothing was known of their pathogenesis. Any rationale approach to treatment was therefore out of the question. However, matters are now changing rapidly. The genes for many of these disorders have been localised and characterised and their gene products identified and studied. The detection of preclinical disease, the identification of heterozygous carriers and prenatal diagnosis are all becoming possible, and, hopefully, effective treatments may no be too far distant.” Now, ten years later, more genes associated with neuromuscular disorders have been reported, confirming the wide genetic heterogeneity of most of diseases of the peripheral nervous system. Thinking genetically has become more important and more compelling. It allows the unequivocal diagnosis of neonatal, pediatric and adult diseases whose etiology has a genetic basis, thus providing a more accurate prediction of natural history and prognosis, and reproductive planning for the family, not only offering genetic counselling and prenatal diagnosis but also preimplantational genetic diagnosis. Moreover, for a number of them molecular and cell pathogenesis is suggesting new molecular targets and, more relevant, novel therapeutic approaches are currently developing to manage and treat these disorders, including new drugs and gene and cellular therapies.

 The aim of the symposium is to discuss the state-of –the-art of neuromuscular diseases as a whole, including muscular dystrophies, mitochondrial disorders, peripheral neuropathies, spinal muscular atrophy, motoneurone disease and Friedreich ataxia. We will be able to confront and compare pathogenic mechanisms and molecular targets for the different diseases, as a forum for discussion of the rational basis of the new therapeutic approaches.