Applied research in neuromuscular diseases

Research Program

Neuroscience

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

Projects

Project name:
ArmTracker: A state-of-the-art wearable system to assess upper limb motor function in reallife conditions for patients with Duchenne muscular dystrophy and spinal muscular atrophy.
Leader
Daniel Natera de Benito
Funding entities:
Fundació La Marató de TV3
Code
561/C/2020
Starting - finishing date:
2021 - 2024
Project name:
Medicina Personalizada para las Distrofias Musculares Congénitas: Desarrollo de terapias avanzadas, modelos fisiológicos y herramientas diagnósticas precisas
Leader
Cecilia Jiménez Mallebrera
Funding entities:
Instituto de Salud Carlos III (ISCIII)
Code
PI19/00122
Starting - finishing date:
2020 - 2022
Project name:
Early diagnosis of dystrophinopathy in patients under 5 years of age who present hypertransaminemia in laboratory analysis in a pediatric referral hospital
Leader
Andrés Nascimento Osorio
Funding entities:
PTC Therapeutics, Inc., PTC Therapeutics International Limited
Code
PCP00273
Starting - finishing date:
2020 - 2021
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Theses

  • Role of collagen VI on skeletal muscle and adipose tissue homeostasis: implications for the physiopathology of muscular dystrophies.
    Author
    Rodríguez García, Mª Angeles
    Institution
    UNIVERSIDAD DE BARCELONA
    17/10/2016
  • Pathological and Molecular Aspects of Mitochondrial Myopathies in Children
    Author
    Jou Muñoz, Cristina
    Institution
    UNIVERSIDAD DE BARCELONA
  • Nueva aproximación terapéutica para las miopatías de Ullrich y Bethlem basada en la edición de mutaciones dominantes de colágeno VI en fibroblastos de pacientes
    Author
    Pérez Ramos, Sandra
    Institution
    UNIVERSIDAD DE BARCELONA
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