Cecilia Jiménez Mallebrera
Jefe de Grupo Senior
Research group
Researcher Cecilia Jiménez graduated in Biology from the University of Navarra and from the University of Buckingham in 1996 and earned her PhD in Genetics from the University of London (UCL) in 2001. In 2005, she obtained the degree of Clinical Scientist for the Health and Care Professions Council of the United Kingdom.
Between 2001 and 2010, she undertook a postdoctoral stay at the Dubowitz Neuromuscular Center (now in Great Ormond Street Hospital, London) and the Dept. Of Neuropathology at the Charing Cross Hospital, London where she specialized in neuromuscular pathologies and in the genetics and mechanisms of congenital muscular dystrophies.
She is a member of the European networks EURO-NMD and Treat-NMD and CIBERER.
In 2010, she joined as Researcher Miguel-Servet and group leader at the FSJD.
She is currently leading the group of applied research in neuromuscular diseases whose main objectives are to deepen the mechanism by which neuromuscular diseases occur, to improve the diagnosis of patients by identifying new biomarkers and methodologies and to investigate advanced therapies based, among others, on the genetic edition.
Professional network profiles
Related websites
SJD Barcelona Children's Hospital Last Publications
- López-Marquez A, Badosa-Gallego MC, Enjuanes-Ruiz L, Hernández-Carabias P, Sánchez-Martín M, Cadot B, Guesmia Z, Georvasilis I, Balsells S, Blanco-Ramos M, Puighermanal E, Quintana A, Roldan-Molina M, Allamand V and Jimenez-Mallebrera C Col6a1 knock-in mice provide a promising pre-clinical model for collagen VI-related dystrophies. Disease Models & Mechanisms . 19(1): .
- Foley, AR, Bolduc, V, Guirguis, F, Donkervoort, S, Hu, Y, Orbach, R, McCarty, RM, Sarathy, A, Norato, G, Cummings, BB, Lek, M, Sarkozy, A, Butterfield, RJ, Kirschner, J, Nascimento-Osorio A, Natera-de Benito D, Quijano-Roy, S, Stojkovic, T, Merlini, L, Comi, G, Ryan, M, McDonald, D, Munot, P, Yoon, G, Leung, E, Finanger, E, Leach, ME, Collins, J, Tian, CX, Mohassel, P, Neuhaus, SB, Saade, D, Cocanougher, BT, Chu, ML, Scavina, M, Grosmann, C, Richardson, R, Kossak, BD, Gospe, SM, Bhise, V, Taurina, G, Lace, B, Troncoso, M, Shohat, M, Shalata, A, Chan, SHS, Jokela, M, Palmio, J, Haliloglu, G, Jou-Munoz C, Gartioux, C, Solomon-Degefa, H, Freiburg, CD, Schiavinato, A, Zhou, HY, Aguti, S, Nevo, Y, Nishino, I, Jimenez-Mallebrera C, Lamande, SR, Allamand, V, Gualandi, F, Ferlini, A, MacArthur, DG, Wilton, SD, Wagener, R, Bertini, E, Muntoni, F and Bönnemann, CG Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T BRAIN . 148(9): 3215-3227.
- Frías M, Badosa-Gallego MC, Jimenez-Mallebrera C, Porta JM and Roldan-Molina M The artificial intelligence challenge in rare disease diagnosis: A case study on collagen VI muscular dystrophy. COMPUTERS IN BIOLOGY AND MEDICINE . 196(Pt A): 110610-110610.
Projects
- Project name:
- Avanzando en las terapias basadas en ácidos nucleicos para distrofias relacionadas con el colágeno VI: Validación in vivo y desarrollo preclínico
- Leader
- Cecilia Jiménez Mallebrera, Arístides Lopez Marquez
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- PI25/00303
- Starting - finishing date:
- 2026 - 2028
- Project name:
- Investigación sobre Distrofias Musculares Congénitas
- Leader
- Cecilia Jiménez Mallebrera
- Funding entities:
- Parc Sanitari de Sant Joan de Déu -Serveis de Salut Mental
- Code
- PFNR0214
- Starting - finishing date:
- 2025 - 2030
- 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
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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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.
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Characterization of Extracellular Vesicles in Fibroblasts of Collagen-VI Related Muscular Dystrophy
A team led by the Applied research in neuromuscular diseases at the Institut de Recerca Sant Joan de Déu · SJD Barcelona Children's Hospital has made significant advancements in comprehending the pathogenesis of Collagen-VI Related Muscular Dystrophy (COL6-RD) by analyzing extracellular vesicles and their correlation with cellular mobility.
