DanielaSica-Andrei EB Research InstituteAustria

Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a rare genetic disease associated with chronic wounds and a high risk of aggressive cutaneous squamous cell carcinoma (cSCC), for which effective treatments are lacking. This study investigates a multi-omics-driven drug repurposing strategy to identify new therapeutic options. Integrated analysis of molecular data revealed dysregulated pathways in RDEB-associated cSCC and identified statins as potential anti-tumor agents. To validate this, statins were tested in vitro using EB-derived cancer cell models. Functional assays assessing cell viability and cytotoxicity were performed using automated plate-based detection, including the Tecan Spark® Cyto, enabling reproducible and quantitative evaluation of cellular responses. Preliminary results showed reduced cancer cell viability, supporting a potential anti-tumor effect. Ongoing in vivo studies using xenograft models aim to determine whether these findings translate into tumor growth inhibition. This work highlights the potential of combining multi-omics analysis with automated functional validation to accelerate drug repurposing for rare and life-threatening diseases.