Maria del Carmen Fons Estupiña
Investigador
Research group
In 2000, Dr. Fons graduated with a degree in medicine from the Rovira i Virgili University of Reus. She then completed MIR training in pediatrics and its specific areas at the Hospital Clínico Universitario Lozano-Blesa in Zaragoza. During the years 2005-2006, she completed the Master in Paediatric Neurology at the Neuropaediatrics Service of the SJD Barcelona Children's Hospital - Universitat de Barcelona. Since 2007, she has worked as an assistant professor at the University of Barcelona. She received a doctorate in medicine from the University of Barcelona in 2010.
She completed a Fellowship in Fetal-Neonatal Neurology at Boston Children's Hospital-Harvard University for two years (2010 and 2011) due to her interest in the pathology of the developing nervous system and the need to broaden her training in clinical research.
Since June 2017, she has been the head of the Paediatric Neurology Service at SJD Barcelona Children's Hospital. She has been associate professor of the Medicine degree at the University of Barcelona since 2021 and director of the Master in Neuropaediatrics at the SJD Barcelona Children's Hospital - Universitat de Barcelona since September 2022.
Furthermore, she has received competitive post-doctoral grants for further studies abroad. She is a member of the Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) as well as a member of international expert groups such as the International Consortium for the Research on Alternating Hemiplegia of Childhood (IAHCRC), member of the European Reference Network EPICARE (WP-neonatal seizures) and member of Neuro-MIG (international group of experts in brain malformations).
She is a full member of the Spanish Society of Paediatric Neurology, a member of the European Society of Paediatric Neurology and is a member of the Scientific Committee of the Spanish Association of Alternating Hemiplegia of Infancy (AESHA). Her areas of research interest are complex epilepsies of the infant and newborn of genetic origin and mainly channelopathies.
Currently, she leads the research line: Neonatal seizures and epileptic and developmental encephalopathies of early onset of genetic and neurometabolic origin.
Last Publications
- Serafim AB, Olivé-Cirera G, Ortega-González Á, Kruer MC, Weese-Mayer D, Rand CM, Fons-Estupina C, Fernández-Ramos JA, Clemente M, Simabukuro MM, Embiruçu EK, Ibáñez-Micó S, Dalmau JO, Graus F, Armangue-Salvador T and Sabater L Antibodies Against ZSCAN1 in Pediatric and Adult Patients With Non-Paraneoplastic ROHHAD Syndrome NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION . 11(5): .
- Papadopoulou MT, Muccioli L, Bisulli F, Klotz KA, Fons-Estupina C, Trivisano M, Kabulashvili T, Specchio N, Lesca G and Arzimanoglou A Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE Epilepsia Open . 9(3): 996-1006.
- Saez-Matia A, Ibarluzea MG, M-Alicante S, Muguruza-Montero A, Nuñez E, Ramis R, Ballesteros OR, Lasa-Goicuria D, Fons-Estupina C, Gallego M, Casis O, Leonardo A, Bergara A and Villarroel A MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense KCNQ2 Gene Variants INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 25(5): .
Projects
- Project name:
- Mapas de conectividad funcional cerebral y neurodesarrollo en epilepsia pediatricas de debut precoz. EpiNeuroMaps.
- Leader
- Maria del Carmen Fons Estupiña
- Funding entities:
- Hospital Sant Joan de Déu - Esplugues HSJD
- Code
- BR202302
- Starting - finishing date:
- 2024 - 2027
- 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
- Project name:
- I4KIDS 4RARE_From challenge to adoption: acceleration of paediatric orphan medical devices
- Leader
- Arnau Valls Esteve
- Funding entities:
- European Commission
- Code
- 101161079
- Starting - finishing date:
- 2024 - 2026
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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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.