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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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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Investigador post-doc
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Técnico
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Cristina Puig Ram
Ayudante de investigación
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Ruth Lavilla Hidalgo
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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Ainhoa Estefania Romero Fernández
Técnico
Last Publications
- Coratti G, Bovis F, Pera MC, Civitello M, Rohwer A, Salmin F, Glanzman AM, Montes J, Pasternak A, De Sanctis R, Dunaway Young S, Duong T, Mizzoni I, Milev E, Sframeli M, Morando S, Albamonte E, D'Amico A, Catteruccia M, Brolatti N, Pane M, Scoto M, Messina S, Exposito-Escudero JM, De Waele L, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Nascimiento A, Bruno C, Goemans N, Sansone VA, Day J, Baranello G, Muntoni F, Finkel R and Mercuri E Long-term natural history in type II and III spinal muscular atrophy: a 4-year international study on the Hammersmith Functional Motor Scale Expanded. EUROPEAN JOURNAL OF NEUROLOGY . 31(12): .
- Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM and Laurie S Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses. npj Genomic Medicine . 9(1): 49-49.
- Mendell JR, Muntoni F, McDonald CM, Mercuri EM, Ciafaloni E, Komaki H, Leon-Astudillo C, Nascimento-Osorio A, Proud C, Schara-Schmidt U, Veerapandiyan A, Zaidman CM, Guridi M, Murphy AP, Reid C, Wandel C, Asher DR, Darton E, Mason S, Potter RA, Singh T, Zhang W, Fontoura P, Elkins JS and Rodino-Klapac LR AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial NATURE MEDICINE . : .
Projects
- 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
- Project name:
- Realización de un ensayo observacional maestro orientado a las enfermedades raras para descifrar la complejidad y optimizar la preparación del ensayo; red PROMOTE
- Leader
- Daniel Natera de Benito
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- AC23_2/00026
- Starting - finishing date:
- 2024 - 2026
- Project name:
- Plataforma de Biobanco, Biomodelos e Impresión 3D Sant Joan de Déu como paradigma de excelencia en investigacion Pediatrica.
- Leader
- Cristina Jou Muñoz
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- PT23/00002
- Starting - finishing date:
- 2024 - 2026
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.