Applied research in neuromuscular diseases
Research Program
Leaders
Where we are
SJD Barcelona Children's Hospital
Related websites
SJD Barcelona Children's Hospital 
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
- Muscular dystrophy with special interest in collagen VI and dystrophin deficiencies.
- Mitochondrial myopathies, particularly TK2 deficiency, as well as other interdisciplinary lines of inquiry.
- Biomarker identification and validation.
- Advanced therapies such as genome editing and RNA-based therapies.
- Systems biomedicine.
Scientific objectives
- To identify and validate biomarkers that would facilitate the development of new treatments and technologies for their detection including digital PCR and biosensors.
- To develop therapies for neuromuscular diseases. This area is structured around the following objectives:
- To identify novel therapeutic targets through systems biomedicine and drug repositioning.
- To develop therapies based on gene editing, antisense oligonucleotides and microRNAs and pharmaceuticals.
- 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
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Jefe de Grupo Senior
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Investigador pre-doc
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Investigador
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Investigador
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Irene Beatriz Zschaeck Luzardo
Investigador
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Ayudante de investigación
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Jessica Maria Exposito Escudero
Ayudante de investigación
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Investigador post-doc
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Investigador
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Maria Del Carmen Badosa Gallego
Ayudante de investigación
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Investigador post-doc
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Investigador post-doc
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Ayudante de investigación
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Técnico
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Ayudante de investigación
Last Publications
- Domínguez-González C, Madruga-Garrido M, Hirano M, Martí I, Martín MA, Munell F, Nascimento-Osorio A, Olivé M, Quan J, Sardina MD, Martí R and Paradas C Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency. ORPHANET JOURNAL OF RARE DISEASES . 16(1): 407-407.
- Vidal S, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, Blasco-Perez L, Trotta JR, Derdak S, O'Callaghan-Gordo M, Garcia-Cazorla A, Pineda M, Armstrong-Moron J and Rett Working Group Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome. SCIENTIFIC REPORTS . 11(1): 18146-18146.
- Natera-de Benito D, Aguilera-Albesa S, Costa-Comellas L, García-Romero M, Miranda-Herrero MC, Rúbies Olives J, García-Campos Ó, Martínez Del Val E, Martinez Garcia MJ, Medina Martínez I, Cancho-Candela R, Fernandez-Garcia MA, Pascual-Pascual SI, Gómez-Andrés D, Nascimento-Osorio A and Neuromuscular Working Group of Spanish Pediatric Neurology Society COVID-19 in children with neuromuscular disorders. JOURNAL OF NEUROLOGY . 268(9): 3081-3085.
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
Theses
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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
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Pathological and Molecular Aspects of Mitochondrial Myopathies in Children
- Author
- Jou Muñoz, Cristina
- Institution
- UNIVERSIDAD DE BARCELONA
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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
News
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Sant Joan de Déu participates in the new Barcelona Medical Photonics Network
Eight prominent health institutions in the Barcelona area, their research institutes and ICFO join forces through the creation of a network to bring cutting-edge photonic technologies to hospitals.
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Institut de Recerca Sant Joan de Déu and ICFO create a joint lab to improve neonatal and paediatric health care
The new joint laboratory will advance the use and development of photonic technologies to understand, diagnose, monitor and treat paediatric diseases.
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Care robotics can help patients with Duchenne muscular dystrophy (DMD)
An IRSJD research team develop a robotic wheelchair helps to improve the physical condition of people with Duchenne muscular dystrophy.