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Berta Estévez Arias

Berta Estévez Arias

Investigador post-doc

Research group

Applied research in neuromuscular diseases

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.

Professional network profiles

Last Publications

  • Maroni MJ, Barton M, Lynch K, Deshwar AR, Campbell PD, Millard J, Lee R, Cohen A, Ahmad R, Paranjapye A, Faundes V, Repetto GM, McKenna C, Shillington AL, Phornphutkul C, Hove HB, Mancini GMS, Schot R, Barakat TS, Richmond CM, Lauzon J, Ibrahim AIE, Nava C, Héron D, van Aalst MMA, Atemin S, Sleptsova M, Aleksandrova I, Todorova A, Watkins DL, Kozenko MA, Natera-de Benito D, Ortez-Gonzalez CI, Estévez-Arias B, Lecoquierre F, Cassinari K, Guerrot AM, Levy J, Latypova X, Verloes A, Innes AM, Yang XR, Banka S, Vill K, Jacob M, Kruer M, Skidmore P, Galaz-Montoya CI, Bakhtiari S, Mester JL, Granato M, Armache KJ, Costain G and Korb E Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder BRAIN . 149(1): 343-359.
  • Estévez-Arias B, Sarv S, Bonello-Palot N, Carrera-García L, Ortez-Gonzalez CI, Exposito-Escudero JM, Yubero-Siles D, Muchart-Lopez J, Delmont E, Õiglane-Shlik E, Meren T, Puusepp S, Murumets Ü, Salomons GS, Udd B, Väli L, Cantarero-Abad L, Bönnemann CG, Nascimento-Osorio A, Ramón-Maiques S, Õunap K, Hoenicka J, Natera-de Benito D and Palau F Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease ANNALS OF NEUROLOGY . 98(6): 1335-1351.
  • Nascimento-Osorio A, Ortez-Gonzalez CI, Exposito-Escudero JM, Carrera-García L, Cerezo, S, Lotz, S, Zschaeck-Luzardo I, Alejandro Luján Feliu-Pacual, Gatnau, C, Estévez-Arias B, Tizzano E and Natera-de Benito D Neuromuscular diseases in pediatrics with specific treatments MEDICINA-BUENOS AIRES . 85: 34-40.
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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
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