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Tracking Down Neuromuscular disease:

Neuromuscular diseases (NMDs) are chronic and so far incurable conditions that gradually affect patients' muscles, leading to potentially severe disabilities. Biomedical researchers are busy looking for the diseases' Achilles' heel. Rising to meet this challenge head on are scientists from the EU-funded BIO-NMD (Identifying and validating preclinical biomarkers for diagnostics and therapeutics of NMDs) project, which was granted more than EUR 5.6 million under the Health Theme of the Seventh Framework Programme (FP7) to identify new biological markers for future clinical trials.

Sometimes also called 'neuromuscular disorders' or 'muscular dystrophies', NMDs are a diverse group of conditions. All NMDs affect the muscles or nerves that control the muscles, but different conditions affect different muscles such as in the limbs or heart. NMDs include diseases such as Duchenne muscular dystrophy or Bethlem myopathy. Some disorders of this group are genetic and transmitted within a family.

Gradually, NMD sufferers lose mobility. This decline can be more or less severe and more or less slow, depending on the patient and on the disorder. Some NMDs are very rare, while others are more widespread.

Although there is no cure available at the moment, years of biomedical research have brought important insights into NMDs. Researchers understand much better the onset of the diseases and potential targets for new drugs. However, scientists still need a lot of fine-tuning, in particular to find reliable markers, i.e. specific parameters they can measure to detect, follow and hopefully treat these diseases.

Launched in 2009 and due to end in 2012, BIO-NMD is searching for reliable biomarkers to monitor the progression of a disease and the response to a given drug, and guarantee a well-targeted, efficient treatment. Eventually, these markers can be validated in both animal and human samples, before being used in clinical trials.

At the crossroads between molecular biology and the latest advances in computing, the budding -omics sciences open up new perspectives for identifying such markers. The suffix 'omics' refers to the comprehensive analysis of a whole biological system or whole organism, for instance a whole set of genes (genomics) or proteins (proteomics). Instead of studying a gene or protein one by one or within a small group, researchers screen a complete set all at once. In so doing, they get a snapshot of the system at a moment in time, and can better understand how genes express themselves.

In the case of NMDs or other diseases, scientists try to identify which gene corresponds to which step and characteristic. Eventually, -omic sciences should allow scientists to better predict the development of a disease and its response to a treatment.

Coordinated by the University of Ferrara in Italy, the BIO-NMD project brings together 10 institutions from 7 European countries, including the French National Institute of Health and Medical Research (INSERM), University College London in the UK and the US-based company Ariadne Genomics that produces a visualisation software called Pathway Studio. Ariadne will process and interpret large sets of -omic data, allowing the BIO-NMD consortium to spot key facts from large collections of documents, and build focused databases. The project's scientists will use this knowledge to refine and test hypotheses regarding different aspects of NMD research, be they disease modelling, drug action or biomarker discovery.




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