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This volume contains the text of the presentations delivered at the
International Symposium on Rare Diseases "Inherited Neuromuscular
Diseases: Translation from Pathomechanisms to Therapies," held in
Valencia, Spain, from November 16 to 18, 2008. The symposium
represents a part of the continuous efforts on dif- sion of science
to the society of the Catedra Santiago Grisolia and the Fundacion
Ciudad de las Artes y las Ciencias -Comunitat Valenciana. More than
200 inter- tional scientists from different countries of Europe,
the USA, and Australia attended the meeting. The venue was the
Auditorium of the Science Museum Principe Felipe. 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 than one person in every 3,000 has a
serious disabling inherited n- romuscular 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 identi ed and studied. The detection of
preclinical disease, the identi cation of heterozygous carriers and
prenatal di- nosis are all becoming possible, and, hopefully,
effective treatments may no be too far distant."
This volume contains the text of the presentations delivered at the
International Symposium on Rare Diseases "Inherited Neuromuscular
Diseases: Translation from Pathomechanisms to Therapies," held in
Valencia, Spain, from November 16 to 18, 2008. The symposium
represents a part of the continuous efforts on dif- sion of science
to the society of the Catedra Santiago Grisolia and the Fundacion
Ciudad de las Artes y las Ciencias -Comunitat Valenciana. More than
200 inter- tional scientists from different countries of Europe,
the USA, and Australia attended the meeting. The venue was the
Auditorium of the Science Museum Principe Felipe. 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 than one person in every 3,000 has a
serious disabling inherited n- romuscular 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 identi ed and studied. The detection of
preclinical disease, the identi cation of heterozygous carriers and
prenatal di- nosis are all becoming possible, and, hopefully,
effective treatments may no be too far distant."
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