Berta Estévez Arias
Investigador post-doc
Research group
Researcher Berta Estévez graduated in Human Biology in 2020 from Pompeu Fabra University and completed a Master's degree in Advanced Genetics at the Autonomous University of Barcelona (2021).
In 2025, she earned her PhD in Genetics from the University of Barcelona, defending her doctoral thesis entitled "Precision medicine for rare neuromuscular diseases: clinical, genetic and pathophysiological studies." Berta has specialized training in neuromuscular diseases and experience in translational research.
Since 2021, she has collaborated continuously with the Neuromuscular Pathology Unit at Sant Joan de Déu Hospital, participating in various clinical, genetic, and pathophysiological studies related to neuromuscular diseases. She is also a member of the genomics team within the Genetics Department at Sant Joan de Déu Hospital.
As a postdoctoral researcher, Berta participates in the research lines on the genetics and pathophysiology of neuromuscular diseases specific to the group.
Last Publications
- Muhmann D, Haliloglu G, Grimalt MA, Osredkar D, Castro AV, Corredera SC, Abicht A, Yildiz AE, Böhm J, Schara-Schmidt U, Gergeli AT, Estévez-Arias B, Vicente EC, Nascimento-Osorio A, Marina AD, Natera-de Benito D and Roos A Clinical Variability and Genotype-Driven Outcomes in CHRND-Related Congenital Myasthenic Syndrome. EUROPEAN JOURNAL OF NEUROLOGY . 33(9): .
- Carrera-García L, Estévez-Arias B, Nascimento-Osorio A, Exposito-Escudero JM, Cerezo S, Lotz-Esquivel S, Zschaeck-Luzardo I, Lujan A, Gatnau C, Tizzano E, Natera-de Benito D and Ortez-Gonzalez CI Patrón clínico y evolución de la enfermedad de Charcot-Marie-Tooth en pediatría. MEDICINA-BUENOS AIRES . 86 Suppl 3: 1-6.
- Nascimento-Osorio A, Ortez-Gonzalez CI, Exposito-Escudero JM, Carrera-García L, Cerezo S, Lotz-Esquivel S, Zschaeck-Luzardo I, Lujan A, Gatnau C, Estévez-Arias B, Tizzano E and Natera-de Benito D Fenotipos de distrofia muscular congénita. MEDICINA-BUENOS AIRES . 86 Suppl 3: 7-13.
Projects
- Project name:
- Desarrollo de outcome measures clínicos e identificación de biomarcadores para avanzar hacia el tratamiento personalizado en síndromes miasténicos congénitos (MYASMEASURES)
- Leader
- Daniel Natera de Benito
- Funding entities:
- Instituto de Salud Carlos III (ISCIII), Fundació Privada per a la Recerca i la Docència Sant Joan de Déu - FSJD, Natera de Benito, Daniel
- Code
- PI24/00473
- Starting - finishing date:
- 2025 - 2027
- Project name:
- Ajuts Joan Oró per a la contractació de personal investigador predoctoral en formació (FI 2024). Beneficiari: Esteve, Berta
- Leader
- Daniel Natera de Benito
- Funding entities:
- Agaur - Agència de Gestió d'Ajuts Universitaris i de Recerca
- Code
- 2024 FI-1 00075
- Starting - finishing date:
- 2024 - 2027
- Project name:
- SGR 2022-2024_Precision Medicine of Genetic and Rare Diseases (PrecisionRare)
- Leader
- Francesc Palau Martínez
- Funding entities:
- Agaur - Agència de Gestió d'Ajuts Universitaris i de Recerca
- Code
- 2021 SGR 01610
- Starting - finishing date:
- 2022 - 2025
News
-
An innovative genetic analysis by Sant Joan de Déu and CNAG successfully diagnoses 23 children with neuromuscular diseases
The research, published in the scientific journal European Journal of Human Genetics, has been enabled by SolveRD, a project funded by the European Commission, in which Hospital Sant Joan de Déu and the Centro Nacional de Análisis Genómico (CNAG) participate
More activities
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Defensa tesi doctoral: Berta Estévez Arias
Auditori Plaza · Hospital Sant Joan de Déu and online
