Neuromuscular Diseases

The Neuromuscular Diseases Unit is a multidisciplinary unit with extensive experience in the diagnosis, treatment and research of neuromuscular diseases. It is a team in which clinical and research activity are perfectly overlapped and in which clinical problems are addressed in the laboratory to find new biomarkers and diagnostic tools, new pathological mechanisms of disease and new therapeutic targets. The Unit is composed of neurologists, biologists and laboratory technicians who are all experts in basic and translational research and in the organization and management of sample collections.

Main lines of research

• Autoimmune neuromuscular diseases (myasthenia, neuropathies, and myopathies). (Querol Gutierrez, Luis Antonio; Cortes Vicente, Elena; Gallardo Vigo, Eduard).
  • Characterization of new target antigens in myasthenia gravis (MG) and immune neuropathies (CIDP, GBS, MMN). Their use as diagnostic and therapeutic biomarkers.
  • Nerve damage biomarkers.
  • Pathogenesis of newly recognized antigens both in MG and in CIDP.
  • Collaborators of the IGOS database for Guillain-Barré syndrome.
  • Coordinators of the INCBase (international database for CIDP).
  • GENRARE Spanish registry for neuromuscular diseases.
• Muscular dystrophies. (Olive Plana, Montserrat).
  • Muscle MRI analysis as a biomarker of different muscular dystrophies.
  • Natural history of dysferlinopathies. The international COS study Jain Foundation.
  • Development of cell models of NMD diseases to study pathogenic mutations.
  • Clinical, pathological, and molecular characterization of rare myopathies.
• Amyotrophic lateral sclerosis. (Rojas Garcia, Ricardo).
  • Gene profile of ALS patients in Spain.
  • Biomarker profile in different phenotypes of ALS.

Scientific Challenges

• Advance in the knowledge of the immunological mechanisms involved in the pathogenesis of autoimmune neuromuscular diseases (MG, CIDP, MMN).
• Evaluate the use of Nfl and myelin proteins as biomarkers of nerve damage in inflammatory neuropathies.
• To develop mouse models to demonstrate the pathogenic effect of antibodies to new antigens in MG.
• Advance in the knowledge of the pathogenetic mechanisms of inflammatory myopathies (DM, necrotizing myopathies).
• Search for new antigens and develop diagnostic tests with known and new biomarkers in immune-mediated neuropathies, myasthenia gravis, and inflammatory myopathies.
• Advance in the knowledge of the pathogenetic mechanisms involved in muscular dystrophies.
• Search for new genes and biomarkers in the different phenotypes of ALS.
• Advance in the knowledge of the pathogenetic mechanisms involved in ALS.
• Use of the GENRARE registry to perform research in different NMD.
• Search for new myopathy causative genes.
• Characterization of new muscle disorders.

Contact

Luis Antonio Querol
LQuerol@santpau.cat