News & updates

M18 Lay Version

May 2011 Update - Lay Version

The University of Ferrara, Italy have shared samples of biomaterials with other partners for analysis using “OMICs” techniques - these are high tech approaches for analysing a wide range of data, in this case all the DNA and RNA in a sample. For example, they have sent blood samples (plasma and serum) from neuromuscular patients to the Royal Institute of Technology, Sweden in order that they can identify unusual sets of proteins which may be useful as biomarkers.

They have also been investigating specialised cells in the blood (called macrophages) which produce and secrete a protein called “collagen 6” - a major component of the connective tissue between muscle fibres. Results were found to mirror those obtained from muscle biopsies. This suggests that these macrophages may offer a reliable, minimally invasive biomarker to replace muscle biopsies in the diagnosis and monitoring of Bethlem myopathy and Ullrich congenital muscular dystrophy. This work has now been published (Gualandi, Muscle and Nerve, 2011).

At the Leiden University Medical Center (LUMC), partners have been using mass spectrometry to identify potential new biomarkers in blood serum. They will soon be analysing these proteins to discover how they are constructed from their peptide building blocks (peptide analysis).

Newcastle University has been coordinating exchange of patient samples (serum, plasma, DNA and biopsies) between partners as well as identifying where further samples are needed and requesting these from the EuroBiobank. They have also been involved in collecting new samples from patients although no new biopsies have been requested for BIO-NMD – any biopsies used were taken previously, usually for the purpose of diagnosis.

Newcastle have sent the (anonymised) clinical data which accompanies samples to INSERM so that they can build the database required by the project.

They have also been increasing the visibility of the project through newsletters, websites, academic and industry events and press releases to the scientific media. BIO-NMD’s website ( is updated from Newcastle and provides a central point for all information about the project.

The University of Padova have recently discovered several potential novel biomarkers for COLVI (collagen 6) disease through their studies on autophagy – the process by which a cell degrades its old, damaged or no longer required components. When this process is interrupted, the build up of these defective components can lead to cell (and therefore muscle) damage.

They found that the autophagic process is impaired in muscles from both the COLVI mouse model and patients affected by COLVI diseases. Therefore, components involved in this process could serve as biomarkers of these conditions. They also found that reactivation of the defective autophagy was able to restore muscle cell survival with structural and functional improvement in COLVI mice.

Partners at the University College London have been sequencing the protein-coding parts of DNA (the exome) in samples from 2 distinct groups of Duchenne patients:

• Those who have either early or late loss of ambulation (ability to walk)
• Those who have a longer or shorter than typical survival

They are looking for genetic biomarkers that affect the severity of Duchenne muscular dystrophy. Data from this work is still under analysis.

UCL have also been involved in the exchange of samples coordinated by Newcastle.

University of Rome Tor Vergata has been keeping up to date with the latest regulatory guidelines of the European Medicines Agency (EMA) which govern the qualification procedures of new biomarkers, also in relation to drug response.  It has kept other partners in the consortium informed of any developments and issues through regular updates.

INSERM in France has continued with the development of software (known as UMD-HTS) crucial to the success of the BIO-NMD project. This system can predict the pathogenicity (ability to cause disease) of mutations within different parts of the DNA. It could therefore be used to select the most relevant mutations likely to be useful as new biomarkers. The software is now ready for initial use by the other partners.

The University of Milan have been looking at the effects of cyclosporine A treatment on collagen 6 disease in the mouse model. They have now identified molecules linked to partial muscle recovery after cyclosporine A treatment which may, if validated, act as biomarkers to monitor the effectiveness of cyclosporine A treatment in patients.

KTH Biotechnology in Stockholm have selected a large set of antibodies which bind specifically to potential biomarkers. These antibodies can be used to analyze, detect or capture these proteins and eventually identify new protein biomarkers in blood samples which give useful information about a patient’s likely prognosis.

Applied Biosystems have been working with The University of Ferrara to develop new methods to sequence a panel of neuromuscular disease related candidate genes identified using Ariadne’s database.

Ariadne have completed an audit and analysis of publicly available data in the literature on biomarkers for Duchenne muscular dystrophy disease progression. Partners’ data on new potential biomarkers have also been incorporated to provide a valuable database of knowledge for use by partners in the BIO-NMD project.

Novamen provide project management and support to all the BIO-NMD partners. This ensures the smooth running of the project within budget and to EU requirements. They have arranged the 6-monthly progress meetings, circulated minutes, coordinated the writing and submission of detailed reports on progress to the EU amongst many other BIO-NMD project management activities.


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