The focus of our Biomarker group is to:
- Explain the inter-individual variability by identifying and validating genetic modifiers
- Identify and validate non-invasive biomarkers to be used as surrogate endpoints in clinical trials
We use a multidisciplinary approach to identify and validate molecular biomarkers in patients’ samples and back up the obtained results with data obtained in animal models. We make us of genomic platforms (next generation sequencing and mass spectrometry) to identify DNA changes which modify disease progression. Transcriptomic, proteomic and metabolomic platforms (next generation sequencing, mass spectrometry, immunoassays) are used to identify molecular signatures in body fluids to describe disease progression. The identified markers are validated with independent techniques in independent samples. This approach is used to identify common disease signatures in several neuromuscular condition and to identify therapeutic candidates. In fact, our work does not only involve Duchenne but also other neuromuscular disorders such as Becker muscular dystrophy, limb girdle muscular dystrophies, congenital muscular dystrophies, facioscapulohumeral muscular dystrophy, myasthenia gravis and sporadic inclusion body myositis where the cause of the disease is different, but pathophysiological changes are somewhat similar.