161st ENMC International Workshop on nemaline myopathy and related disorders, Newcastle upon Tyne, 2008

Nigel Laing, C. Wallgren-Pettersson

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

Twenty doctors and scientists from 7 countries gathered in Newcastle upon Tyne on the 28th and 29th September 2008, for the seventh ENMC Workshop on nemaline myopathy (NM) and related disorders. A representative of the patient group “A Foundation Building Strength” gave a presentation at the start of the Workshop.The main themes of the Workshop were continued gene discovery; better definition of clinical entities; animal and tissue culture models of NM; preliminary experimental investigation in model systems of possible therapeutic strategies; locus-specific mutation databases; establishing databases in preparation for anticipated future clinical trials and finally discussion on better methods for molecular analysis of the known NM and related disorders disease genes, especially nebulin. Expected major efforts in the near future include further analysis of possible therapies, development of additional animal models in which to investigate therapies and the implementation of the databases in order to be ready for any future clinical trials. The Workshop participants recognise that a multinational approach to these rare disorders is essential, especially in relation to enrolling patients in any future clinical trials.
Original languageEnglish
Pages (from-to)300-305
JournalNeuromuscular Disorders
Volume19
Issue number4
DOIs
Publication statusPublished - 2009

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