Presentation

The Neuromuscular diseases (NMDs) translational research laboratory at the Institut de Recerca de l’Hospital de Sant Pau has large experience in the diagnosis of neuromuscular diseases and research on their pathogenic mechanisms. The aim of translational research is to apply the results obtained from basic science studies to the clinical setting. Some NMDs have an autoimmune etiology. In some cases the cause of the disease is the presence of autoantibodies that recognize self-structures. In some patients, the target antigen of these antibodies is already known. In others these autoantigens are unknown and part of our research is focused in the discovery of new autoantigens in these diseases. Another important area of members of our team is the clinical, pathological and genetic characterization of rare-inherited muscle disorders.

In both scenarios, we have a long term experience in the diagnosis of NMDs based on the findings in the muscle biopsy by using histochemistry, immunochemistry and immunofluorescence and western blotting. We have also experience in analyzing biopsies and postmortem heart samples using the same techniches applied to study skeletal muscles. Moreover, we have also experience to study skeletal muscle samples from animal models of muscle disorders.

Finally, our basic science studies have allowed us to set up different protocols to purify, expand or differentiate different cell types relevant for NMDs from both human and mouse tissues.