Julia del Rincón de la Villa

I began my professional career after graduating in Medicine from the Universidad de Zaragoza and completing my residency in Paediatrics and its Specific Areas at the HCU Lozano Blesa. I have worked as a specialist in Clinical Genetics at that hospital and at the Hospital Universitari Vall d’Hebron. I have supplemented my training with specialised studies in clinical genetics and rare diseases, as well as a training placement at the Children’s Hospital of Philadelphia.

I am currently practising as a specialist in Clinical Genetics at the SJD Barcelona Children's Hospital, and I combine my clinical work with research and the completion of my doctoral thesis, which focuses on the neurodevelopmental disorder associated with PACS1.

Training

• University Expert in Clinical Genetics and Rare Diseases, Universitat Politècnica de València, 2026.
• Doctor of Medicine Programme, Universidad de Zaragoza, 2022–present.
• Junior doctor specialising in Paediatrics and its specific areas, Hospital Clínico Universitario Lozano Blesa, 2024.
• Master’s Degree in Genetic, Nutritional and Environmental Factors Affecting Growth and Development, Universidad de Zaragoza, 2022.
• Bachelor’s Degree in Medicine, Universidad de Zaragoza, 2019.

International experience

• PhD fellowship at the Children’s Hospital of Philadelphia, Department of Clinical Genetics, Metabolism and Mitochondrial Diseases, 2023.

Scientific activity

• PI23/01370, FIS 2023. Cornelia de Lange Spectrum: Towards Precision Medicine – integration of omics data, longitudinal follow-up and ontogenetic study, Instituto de Salud Carlos III, 2024–present.
• B32_23R. A multidisciplinary study of genetic mosaicism in Cornelia de Lange syndrome: from molecular basis to genetic counselling, Government of Aragon, 2024–present.
• Genomic Medicine (IMPaCT-Genómica), Instituto de Salud Carlos III, ENOD-CIBERER, 2021-2023.