Transcriptomic Repositioning Analysis Identifies mTOR Inhibitor as Potential Therapy for Epidermolysis Bullosa Simplex

In this study, we characterize significant molecular pathways activated in the blisters that form in EBS and employ a systematic drug repositioning screen to identify promising repositionable drugs for EBS. We implicate the PI3K/AKT/mTOR pathway as central in the EBS disease pathway and further validate our computational repositioning analysis by presenting clinical outcomes of two EBS patients treated with mTOR inhibitors. Overall design: Drug repositioning analysis using mRNA data on EBS epidermis