Berta Estévez Arias
Investigador post-doc
Research group
Berta Estévez graduated in Human Biology in 2020 from the Universitat Pompeu Fabra, in Barcelona. Later, in 2021, she studied and finished her master's studies in Advanced Genetics, at the AUniversitat Autònoma de Barcelona.
Currently, he works in the Neurogenetics and Molecular Medicine Group, in coordination with the Neuromuscular Diseases medical team at the SJD Barcelona Children’s Hospital. With her work, she provides genetic assistance to the clinic, at the same time that she participates in the group's own lines of research.
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 . : 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.
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
