Applied research in neuromuscular diseases
Research Program
Leaders
Where we are
SJD Barcelona Children's Hospital
Related websites
SJD Barcelona Children's Hospital The Applied Research Group in Neuromuscular Diseases is part of the Neuromuscular Pathology Unit at Sant Joan de Déu Hospital (HSJD), recognized as a national (CSUR) and European (ERN-NMD) reference center.
Its mission is to improve the quality of life of children with neuromuscular diseases through a comprehensive approach. To this end, they study the clinical and genetic aspects of these pathologies, investigate the mechanisms that cause them, and develop, in the laboratory and in collaboration with other centers, new, specific, and personalized therapies based on RNA, gene editing, and other innovative strategies.
Another of its main objectives is the training of healthcare professionals and researchers specializing in this field, as well as making knowledge about these pathologies more accessible to the public, patients, and their families.
Currently, the group comprises 20 researchers from various disciplines, including neurology, pathology, rehabilitation, psychology, biology, biotechnology, biomedical sciences, and biochemistry. The team also includes five doctoral students, in addition to undergraduate and master's students who complete their training with them each year.
The group's laboratory is located in the new facilities on the IRSJD campus in BASID - Esplugues de Llobregat.
Research lines
CLINICAL RESEARCH
Deep Phenotyping & Natural History
Clinical Trials
Clinical application of ATMPs
Psychological support
PRE-CLINICAL DEVLOPMENET OF ADVANCED THERAPIES
Antisense oligonucleotides
Gene editing
Delivery Systems
DISEASE MECHANISMS
COL6RD
SMA
CMG2
Congenital Myasthenias
Muscular dystrophies
GENETIC BASIS OF DISEASE
Undiagnosed patients
Genetic modifiers of disease
MODELS & TOOLS
Cell and animal models
ADVANCED IMAGING & ANALYSIS (AI)
Biomarkers (non-genetic)
Scientific objectives
- To characterize in depth the clinical spectrum and natural history of neuromuscular diseases through advanced phenotyping and longitudinal patient follow-up.
- To conduct clinical trials aimed at evaluating the safety and efficacy of new therapies, including advanced therapies.
- To develop advanced therapies at the preclinical level, based on antisense oligonucleotides, gene editing, and innovative delivery systems.
- To decipher the pathogenic mechanisms involved in neuromuscular diseases (congenital muscular dystrophies and congenital myasthenia gravis, among others), integrating molecular, cellular, and functional data.
- To identify the genetic basis of the disease, resolving undiagnosed cases and studying the role of genetic modifiers in clinical variability and disease progression.
- To develop and validate experimental models and advanced tools, including cellular and animal models, for disease study and the evaluation of therapeutic strategies. · To discover and validate biomarkers, supported by advanced imaging techniques, multi-omics analysis, and artificial intelligence, to improve diagnosis, prognosis, and therapeutic monitoring.
- To integrate the psychological dimension into clinical research, incorporating psychological support as an essential part of the interdisciplinary approach to patient care.
Area/Field of expertise
Clinical research and clinical trials in neuromuscular diseases.
Deep phenotyping and natural history.
Advanced therapies and translational research.
Antisense oligonucleotides and gene editing.
Therapeutic delivery systems (lipid nanoparticles and other non-viral systems).
Molecular mechanisms of disease.
Collagen VI deficiency muscular dystrophy.
Congenital myasthenia gravis.
Spinal muscular atrophy.
Congenital atrogryposis.
Genetics of rare diseases and undiagnosed cases.
Genetic modifiers and precision medicine.
Cellular and animal models.
Advanced biomedical imaging and artificial intelligence.
Biomarkers.
Psychological approach.
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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Ayudante de investigación
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Jessica Maria Exposito Escudero
Ayudante de investigación
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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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Técnico
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Cristina Puig Ram
Ayudante de investigación
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Técnico
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Maria De Los Angeles Botí González
Ayudante de investigación
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Rocío García Uzquiano
Ayudante de investigación
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Ayudante de investigación
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Lluís Enjuanes Ruiz
Investigador pre-doc
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Investigador post-doc
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Investigador pre-doc
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Investigador pre-doc
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Gestión
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Priscila Sanchez Tarruella
Ayudante de investigación
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Investigador post-doc
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Ayudante de investigación
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Investigador pre-doc
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Silvia Cerezo Corredera
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Ayudante de investigación
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Investigador post-doc
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Investigador
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Técnico
Last Publications
- Carrera-García L, Exposito-Escudero JM, Ñungo Garzón NC, Pareja A, Fernández-García MA, Ortez-Gonzalez CI, Medina J, Martínez-Salcedo E, Urbano M, Grimalt MA, Munell F, García-Campos Ó, Roca S, Obdulia Moya Arcos, Estévez-Arias B, Balsells S, Frongia AL, Borràs A, Puig-Ram C, García Romero M, Calvo R, López-Lobato M, Pitarch-Castellano I, Natera-de Benito D and Nascimento-Osorio A Upper limb motor function in individuals with SMA type 2: natural history and impact of therapies JOURNAL OF NEUROLOGY . 272(5): 331-331.
- Zwartkruis MM, Elferink MG, Gommers D, Signoria I, Blasco-Pérez L, Costa-Roger M, van der Sel J, Renkens IJ, Green JW, Kortooms JV, Vermeulen C, Straver R, van Deutekom HWM, Veldink JH, Asselman F, Tizzano E, Wadman RI, van der Pol WL, van Haaften GW and Groen EJN Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy. GENOME MEDICINE . 17(1): 26-26.
- Favata A, Gallart-Agut R, van Noort L, Exposito-Escudero JM, Medina J, Torras C, Natera-de Benito D, Font-Llagunes JM and Pàmies R Imu-based kinematic analysis to enhance upper limb motor function assessment in neuromuscular diseases. JOURNAL OF NEUROENGINEERING AND REHABILITATION . 22(1): 63-63.
Projects
- Project name:
- MyoCARE: Advancing Antisense Oligonucleotide Therapy for Congenital Muscular Dystrophy
- Leader
- Cecilia Jiménez Mallebrera
- Funding entities:
- Agaur - Agència de Gestió d'Ajuts Universitaris i de Recerca
- Code
- 2025 PROD 00064
- Starting - finishing date:
- 2025 - 2027
- Project name:
- ERDERA_EUROPEAN RARE DISEASES RESEARCH ALLIANCE
- Leader
- Cecilia Jiménez Mallebrera
- Funding entities:
- European Commission
- Code
- 101156595
- Starting - finishing date:
- 2024 - 2031
- Project name:
- Ajuts Joan Oró per a la contractació de personal investigador predoctoral en formació (FI 2024). Beneficiari: Esteve, Berta
- Leader
- Daniel Natera de Benito
- Funding entities:
- Agaur - Agència de Gestió d'Ajuts Universitaris i de Recerca
- Code
- 2024 FI-1 00075
- Starting - finishing date:
- 2024 - 2027
Theses
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Biomarcadores histopatológicos en las enfermedades mitocondriales en la edad pediátrica
- Author
- Jou Muñoz, Cristina
- Institution
- UNIVERSIDAD DE BARCELONA
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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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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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Discussing photonics tools for pediatrics in the 3rd BMPN annual meeting
The Barcelona Medical Photonics Network celebrated the third edition of its annual meeting, gathering experts focuses discussion on photonic techniques to improve diagnostics and treatment personalization in pediatrics.
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The first clinical trial of a gene therapy for Duchenne in children under 4 years old is initiated.
A research team from the Institut de Recerca Sant Joan de Déu · SJD Barcelona Children's Hospital is participating in an international clinical trial of a gene therapy for Duchenne muscular dystrophy in children under 4 years old.
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Nanomedicine to tackle rare diseases
Experts in nanomedicine from various fields have gathered today for the fifth consecutive year at Nano Rare Diseases Day. This event is co-organized by IRSJD and the NANOMED Spain platform, coordinated by IBEC.
