‘A commitment to improving diagnosis and treatments for rare, undiagnosed diseases in pediatric patients’.
Expert in
Clinical genetics, dysmorphology, genetic diagnosis
Languages
Spanish, Catalan, English
Degree in Medicine and Surgery from the University of Barcelona (2014), with Prize for Extraordinary Achievement. Doctor in Medicine from the University of Barcelona, with Distinction Cum Laude (2019), awarded the Gabriel Rufí Prize. Degree in Pediatrics and Specific Areas (2019), awarded the first secondary prize from the Sanitas Prize for the best MIR. Master's in Neuropediatrics at the University of Barcelona (2020). I attended the University-level course in medical genetics and genomics at the UCAM Catholic University of Murcia (2020). I obtained a European Certificate in Medical Genetic and Genomics (ECMGG), developed by the UEMS Section of Medical Genetics (UEMS-SMG) and the Branch of Medical Genetics and Genomics of the European Board of Medical Genetics (EBMG-BMGG) (2023).
Education
- European Certificate in Medical Genetics and Genomics (ECMGG), Developed by: UEMS Section of Medical Genetics (UEMS-SMG), Branch of Medical Genetics and Genomics of the European Board of Medical Genetics (EBMG-BMGG), 2023.
- Master’s in Neuropediatrics, University of Barcelona - SJD Barcelona Children's Hospital, 2020.
- University-level course in medical genetics and genomics, UCAM Catholic University of Murcia, 2020.
- Doctor in Medicine, School of Medicine, University of Barcelona, 2019.
- Internal Medical Residency in Pediatrics and Specific Areas, SJD Barcelona Children's Hospital, 2019.
- Degree in Medicine, School of Medicine, University of Barcelona, 2014.
Scientific activity
- PMP22/00008, IMPACT research projects, ÚNICAS. Implementation of Personalised Pediatric Medicine Network for rare pediatric diseases: A pilot study. PI: Rafael Artuch Iriberri. 2023-2025.
- 2021 SGR 01610, SGR 2022-2024. Precision Medicine of Genetic and Rare Diseases (PrecisionRare). Agaur - Agency for Management of University and Research Grants. PI: Frances Palau Martínez. 2022-2025.
- PI17/00101, FIS 2017. Atrofia cerebelosa en la infancia: desarrollo de herramientas clínico-radiológicas para un fenotipado de precisión, algoritmo diagnóstico integral e identificación de nuevos genes. [Cerebellar atrophy in infancy: development of clinical/radiological tools for precision phenotyping, a comprehensive diagnostic algorithm and identification of new genes.] Carlos III Health Institute. PI: Mercedes Serrano Gimaré. 2018-2022.
- Investigation Assistant, CEIm Fundació Sant Joan de Déu, 2019-2021.
Teaching
- Coordinator on the Master's in clinical genetics and rare diseases, University of Barcelona, SJD Barcelona Children's Hospital, since 2024.
Related links
How to request a treatment in SJD Barcelona Children's Hospital
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