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
- de Fuenmayor-Fernández de la Hoz CP, Morís G, Jimenez-Mallebrera C, Badosa-Gallego MC, Hernández-Laín A, Blázquez Encinar A, Martín MÁ and Domínguez-González C Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency. Molecular genetics and metabolism reports . 26: 100701-100701.
- Jimenez-Mallebrera C, Torelli, S., Feng, L., Kim, J., Godfrey, C., Clement, E., Mein, R., Abbs, S., Brown, S., Campbell, K., Kroger, S., Talim, B., Topaloglu, H., Quinlivan, R., Roper, H., Childs, A., Kinali, M., Sewry, C. and Muntoni, F. A Comparative Study of alpha-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of alpha-Dystroglycan Does Not Consistently Correlate with Clinical Severity BRAIN PATHOLOGY . 19(4): 596-611.
- Clement EM, Godfrey C, Tan J, Brockington M, Torelli S, Feng L, Brown SC, Jimenez-Mallebrera C, Sewry CA, Longman C, Mein R, Abbs S, Vajsar J, Schachter H and Muntoni F Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant Archives of Neurology . 65(1): 137-141.
Projects
- 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:
- Biomarcadores precoces pronósticos y de respuesta a tratamiento en la Atrofia Muscular Espinal
- Leader
- Cecilia Jiménez Mallebrera
- Funding entities:
- Asociacion galiciAME
- Code
- Galicia AME
- Starting - finishing date:
- 2019 - 2021
- Project name:
- Nueva aproximación terapéutica para las miopatías de Ullrich y Bethlem basada en la edición de mutaciones dominantes del colágeno VI en fibroblastos de pacientes
- Leader
- Cecilia Jiménez Mallebrera
- Funding entities:
- OSSJD - Obra Social Sant Joan de Déu
- Code
- Somos Uno 2018
- Starting - finishing date:
- 2018 - 2021
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.