S.P.39 BIO-NMD: An update on the discovery and validation of biomarkers for Neuromuscular Diseases (NMDs) – An EU funded FP7 project

Abstract BIO-NMD is an EU-funded translational research project which aims to identify and validate new biomarkers for neuromuscular diseases. It focuses on DMD, BMD and Collagen-6 myopathies and is a collaboration of 12 partners, coordinated by the University of Ferrara. Nearing the end of its three year funding, this poster reports on progress made, including the identification of several new biomarkers correlated to aspects of NMDs. For example, macrophages as cell biomarkers mirroring skeletal muscle (Gualandi et al., 2011); MMP-9 as a serum biomarker which serves to monitor disease progression in DMD (Nadarajah et al., 2011); components involved in autophagy as exploratory novel biomarkers for COLVI disease (Grumati et al., 2010). Based on the novel ncRNAs previously identified as originating from the dystrophin locus, partners are working to establish their effect on dystrophin isoform expression regulation and role in controlling dystrophin transcription (paper submitted). Potential implications are detailed for future research into NMDs and for treatment monitoring. Tools developed during the course of the project are described, such as a set of methods developed for high-throughput analysis of animal and patient samples including by whole exome sequencing, targeted resequencing of candidate genes, whole transcriptome, short RNA analysis, and high-throughput immunoassay testing.An integrative platform has been developed to analyse and mine the flow of generated data in the context of NMD. Ariadne MedScan® technology has been used to build a literature-derived biological knowledge base focusing on neuromuscular diseases.