Estefanía Martínez Barrios

I specialize in precision medicine and cardiovascular genetics applied to familial heart diseases in children and carry out my professional activity in the Arrhythmia Unit at SJD Barcelona Children's Hospital. I hold a degree in Biomedical Sciences and completed a Master’s Degree in Genetics and Genomics at Universitat de Barcelona. I hold a PhD in Molecular Biology, Biomedicine and Health from Universitat de Girona.

I am also a researcher in the Cardiovascular Diseases in Development research group at Institut de Recerca Sant Joan de Déu, where my research focuses on the genetic basis of hereditary cardiovascular diseases associated with sudden death of pediatric onset.

Training

• PhD in Molecular Biology, Biomedicine and Health, Universitat de Girona, 2021–2025. PhD thesis awarded Cum Laude, focused on improving the genetic diagnosis of hereditary syndromes associated with sudden death in childhood.
• Master’s Degree in Genetics and Genomics, Universitat de Barcelona, 2020.
• Bachelor’s Degree in Biomedical Sciences, Universitat de Barcelona, 2016.

International experience

• Research Fellowship, Sudden Death Genomics Laboratory, Mayo Clinic, Rochester (MN), EE. UU., 2023- 2024.

Scientific activity

• Researcher in the Cardiovascular Diseases in Development research group, Institut de Recerca Sant Joan de Déu, 2022–present.
• Researcher in the SGR Group on Pediatric Arrhythmias, Hereditary Heart Diseases, Cardiovascular Genetics and Sudden Cardiac Death (SCD), 2022–present.
• Researcher in Familial Melanoma, Fundació Clínic Barcelona-IDIBAPS, 2010–2016.

Teaching

• Professor of Biomedical Sciences, Universitat Internacional de Catalunya (UIC Barcelona), 2026–present.