Applied research in neuromuscular diseases

Research Program


Where we are

SJD Barcelona Children's Hospital

How to reach us

Related websites

Our research group focuses its inquiries on a rare disease group, muscles diseases, spanning from their pathophysiology to clinical and therapeutic aspects, and ultimately culminating in the conduct of clinical trials.

We are a reference centre for paediatric neuromuscular diseases both nationally as a Reference Centre-Service Unit (RCSU) and in Europe (European Reference Network [EURO-NMD]), as well as a member of the international Treat-NMD Network.

Some members of our group are affiliated with the Centre for Biomedical Network Research on Rare Diseases (CIBERER Unit U703) and we are recognised as a consolidated research group by AGAUR (Government of Catalonia, 2017 SGR 1308) in Neurosciences and Paediatric Metabolism.

Research lines

  1. Muscular dystrophy with special interest in collagen VI and dystrophin deficiencies.
  2. Mitochondrial myopathies, particularly TK2 deficiency, as well as other interdisciplinary lines of inquiry.
  3. Biomarker identification and validation.
  4. Advanced therapies such as genome editing and RNA-based therapies.
  5. Systems biomedicine.

Scientific objectives

  1. To identify and validate biomarkers that would facilitate the development of new treatments and technologies for their detection including digital PCR and biosensors.
  2. To develop therapies for neuromuscular diseases. This area is structured around the following objectives:
  3. To identify novel therapeutic targets through systems biomedicine and drug repositioning.
  4. To develop therapies based on gene editing, antisense oligonucleotides and microRNAs and pharmaceuticals.
  5. To develop target cell delivery strategies for therapeutic agents.

Area/Field of expertise

The research carried out by our group forms part of the overall study of the pathophysiology of neuromuscular diseases. Our aims are to identify new therapeutic targets, improve pathological and molecular diagnosis and promote research in the field by generating new resources, such as a primary fibroblast/myoblast cell culture bank, collaborating with other research groups or training researchers.
The group includes biologists, neurologists, pathologists, psychologists, rehabilitation physicians and other specialists all working closely on projects that combine basic and clinical research into all areas from diagnosis to treatment of neuromuscular diseases. We are currently participating in 10 multicentre clinical trials.

We deploy a wide range of molecular and cell biology techniques applied to cell models (primary fibroblast, myoblast and cell line cultures) and to biological samples (biopsies). We have pioneered the profiling of the genetic expression and muscle and cell proteins in patients with various types of muscle disease. Adopting a systems biomedicine approach, our aim is to integrate all the data gathered to delineate disease maps and models. This has enabled us to identify new biomarkers (such as GDF-15) for mitochondrial disease and to put forward new working hypotheses.

We are an international reference group for the study of collagen VI deficiency and also coordinate the national registry of these myopathies (CIBERER). Over the past few years, we have further specialised in the study of microRNAs with new techniques such as digital PCR. We have also started work on genome editing of dominant mutations using CRISPR/Cas9.

Group members

Last Publications

More Publications


Project name:
Cohort of Spanish Patients with Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
Carlos Ignacio Ortez Gonzalez
Funding entities:
PTC Therapeutics International Limited
Starting - finishing date:
2022 - 2024
Project name:
Movilidad de profesionales sanitarios e investigadores del SNS (M-BAE)
Cecilia Jiménez Mallebrera
Funding entities:
Instituto de Salud Carlos III (ISCIII)
Starting - finishing date:
2022 - 2022
Project name:
Spinal muscular atrophy disease registry
Andrés Nascimento Osorio
Funding entities:
Novartis Farmacéutica, S.A
Starting - finishing date:
2021 - 2026
More projects


  • Role of collagen VI on skeletal muscle and adipose tissue homeostasis: implications for the physiopathology of muscular dystrophies.
    Rodríguez García, Mª Angeles
  • Pathological and Molecular Aspects of Mitochondrial Myopathies in Children
    Jou Muñoz, Cristina
  • Nueva aproximación terapéutica para las miopatías de Ullrich y Bethlem basada en la edición de mutaciones dominantes de colágeno VI en fibroblastos de pacientes
    Pérez Ramos, Sandra
More Theses


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