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Unit of Neuromuscular, Mitochondrial and Autonomic Nervous System Disorders

Research - Unit of Neuromuscular, Mitochondrial and Autonomic Nervous System Disorders

The Unit’s research is translational in nature and closely linked to its clinical activity. It is carried out within the framework of the August Pi i Sunyer Biomedical Research Institute (IDIBAPS) and the Spanish Biomedical Research Network Centre for Rare Diseases (CIBERER). The Unit also collaborates with national and international centres, including Hospital Sant Joan de Déu and the Muscle Disease Unit at the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS, National Institutes of Health, USA). 

Research is conducted at the Laboratory of Hereditary Metabolic Diseases and Muscle Disorders (IDIBAPS–Hospital Clínic), led by Dr Glòria Garrabou. Its researchers, most of whom are affiliated with CIBERER, use omics analyses, cellular models and molecular biology techniques to study muscle and mitochondrial diseases. Members of the Unit also belong to Dr Josep Dalmau’s research group, which focuses on myasthenia gravis and immune-mediated neurological syndromes, and to Dr Àlex Iranzo’s neurophysiology group. 

The main research areas are: 

  • Inflammatory myopathies: immunological mechanisms, autoantibodies and the molecular signature of inclusion body myositis. 

  • Mitochondrial diseases and metabolic myopathies: study of mitochondrial function in muscle and cellular models. 

  • Muscular dystrophies and myotonic dystrophy type 1, within the DM1-Hub network. 

  • Autoimmune neuropathies, within the SPAiN network. 

  • Humoral and cellular immunity in autoimmune neuromuscular diseases, including myasthenia gravis. 

  • Molecular and neurophysiological biomarkers of disease progression and treatment response. 

  • Biomarkers of adverse effects associated with immunomodulatory therapies. 

  • Autonomic nervous system disorders and the creation of a national registry of rare diseases affecting it. 

The Unit also has an ongoing clinical trial programme, led by its researchers, in myositis, myasthenia gravis and mitochondrial disease. This activity enables patients to acce