Aims of BIO-NMD
The aims of the project are to identify and validate new “targets” useful for the diagnosis and treatment of neuromuscular diseases (NMDs). These targets will be subsequently translated to other hereditary neuromuscular disorders on a pan-European scale, linking existing networks of excellence and groups involved in clinical research projects.
We will use innovative high throughput and multidisciplinary approaches.
The project focuses on solving the problem of designing appropriate, harmonised and effective therapies for NMDs by bridging basic research to clinical research with the aim of discovering and validating biomarkers.
Biomarkers are widely recognised as surrogate endpoints in clinical trials. They represent measurable bioparameters which can flank the diagnosis, functional characterisation and therapy for NMDs. This can greatly help the effectiveness of clinical trials and may contribute to reducing the critical barrier in decision making for achieving long-term goals in therapies. This approach will complement existing efforts on clinical trials and may contribute to an improvement in detection of early therapeutic response.
The project will also allow the development of novel high throughput technologies which may then be translated into the concept of personalised clinical practice, therefore helping to alleviate the negative impact of the diseases on the quality of life of patients and their families. Using high throughput platforms we intend to identify and validate novel biomarkers applicable to three main aspects of NMDs: diagnosis, pathophysiology and treatments.