February 2022 — Vol 142 No 2

Identification of a Candidate Therapy for EBS via Transcriptomic Repositioning Analysis

Identification of new therapies for patients with orphan diseases presents special challenges. In this issue of the JID, Lee and colleagues describe the use of transcriptomic repositioning analysis in studies of patients with Epidermolysis Bullosa Simplex. After identifying mTOR inhibitors as attractive candidates via laboratory and computational studies, a pilot study involving 2 patients suggests that topical sirolimus may have efficacy. Please see pages 382-389 for the Original Article and pages 275-278 for a related Commentary by H. Ragot and A. Hovnanian.