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
-
Jefe de Grupo Senior
-
Investigador pre-doc
-
Investigador
-
Investigador
-
Irene Beatriz Zschaeck Luzardo
Investigador
-
Ayudante de investigación
-
Jessica Maria Exposito Escudero
Ayudante de investigación
-
Investigador
-
Maria Del Carmen Badosa Gallego
Ayudante de investigación
-
Investigador post-doc
-
Investigador post-doc
-
Ayudante de investigación
-
Técnico
-
Cristina Puig Ram
Ayudante de investigación
-
Ruth Lavilla Hidalgo
Técnico
-
Maria de Los Angeles Botí González
Ayudante de investigación
Last Publications
- Vázquez-Costa JF, Povedano M, ANDRES EDUARDO NASCIMIENTO OSORIO, Escribano AM, Garcia SK, Dominguez R, Exposito-Escudero JM, González L, Marco C, Medina J, Muelas N, Natera-de Benito D, Ñungo Garzón NC, Pitarch Castellano I, Sevilla T and Hervás D Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy. EUROPEAN JOURNAL OF NEUROLOGY . 29(12): 3666-3675.
- Vázquez-Costa JF, Povedano M, ANDRES EDUARDO NASCIMIENTO OSORIO, Moreno Escribano A, Kapetanovic Garcia S, Dominguez R, Exposito-Escudero JM, González L, Marco C, Medina J, Muelas N, Natera-de Benito D, Ñungo Garzón NC, Pitarch Castellano I, Sevilla T and Hervás D Nusinersen in adult patients with 5q spinal muscular atrophy: A multicenter observational cohorts' study. EUROPEAN JOURNAL OF NEUROLOGY . 29(11): 3337-3346.
- Guglieri M, Clemens PR, Perlman SJ, Smith EC, Horrocks I, Finkel RS, Mah JK, Deconinck N, Goemans N, Haberlova J, Straub V, Mengle-Gaw LJ, Schwartz BD, Harper AD, Shieh PB, De Waele L, Castro D, Yang ML, Ryan MM, McDonald CM, Tulinius M, Webster R, McMillan HJ, Kuntz NL, Rao VK, Baranello G, Spinty S, Childs AM, Sbrocchi AM, Selby KA, Monduy M, Nevo Y, Vilchez-Padilla JJ, Nascimento-Osorio A, Niks EH, de Groot IJM, Katsalouli M, James MK, van den Anker J, Damsker JM, Ahmet A, Ward LM, Jaros M, Shale P, Dang UJ and Hoffman EP Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA NEUROLOGY . 79(10): 1005-1014.
Projects
- Project name:
- Cerrando la brecha terapeutica para Distrofias Musculares Congenitas. Estrategias para mejorar la eficacia, liberacion y seguridad de terapias basadas en CRISPR/Cas9 y oligonucleotidos
- Leader
- Cecilia Jiménez Mallebrera
- Funding entities:
- Fundación Noelia. Niños Contra la Distrofia Muscular Congénita por Déficit de Colágeno VI
- Code
- PFNR0182
- Starting - finishing date:
- 2023 - 2025
- Project name:
- Cerrando la brecha terapeutica para Distrofias Musculares Congenitas. Estrategias para mejorar la eficacia, liberacion y seguridad de terapias basadas en CRISPR/Cas9 y oligonucleotidos
- Leader
- Cecilia Jiménez Mallebrera
- Funding entities:
- Instituto de Salud Carlos III (ISCIII), Fundació Privada per a la Recerca i la Docència Sant Joan de Déu - FSJD, Jiménez Mallebrera, Cecilia
- Code
- PI22/01382
- Starting - finishing date:
- 2023 - 2025
- Project name:
- DYSTRO-SMARTY: La plataforma de Nanomedicina para terapias avanzadas contra lasvDistrofias Musculares Congénitas.
- Leader
- Cecilia Jiménez Mallebrera
- Funding entities:
- Fundación Salud 2000 (Merck Salud)
- Code
- PCP00358
- Starting - finishing date:
- 2023 - 2024
Theses
-
Biomarcadores histopatológicos en las enfermedades mitocondriales en la edad pediátrica
- Author
- Jou Muñoz, Cristina
- Institution
- UNIVERSIDAD DE BARCELONA
-
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
-
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
-
Gene therapy proved against Muscular Distrophy with the ALBA Synchrotron
A study by the Institut de Recerca Sant Joan de Déu, ICFO, CIBERER and the ALBA Synchrotron has helped demonstrate that gene therapy can reverse the effects of the mutation that causes the symptoms of congenital muscular dystrophy in patient cells.
-
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.
-
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.