Grant: Team Grant: E-Rare Joint Transnational Call

Translating new experimental therapies for rare diseases to the clinic remains a formidable challenge. New, innovative, safe and efficacious approaches to restore expression of adhesive skin proteins in epidermolysis bullosa (EB) patients are needed. Supported by strong preliminary data, we propose in this project several potential therapies to correct recurrent mutations causing recessive dystrophic EB and junctional EB that will be advanced through in vitro testing and assessed in vivo using skin-humanized mouse models that faithfully recapitulate the human EB skin conditions. The therapies are gene edition to remove and replace mutations; skipping of mutant exons; and new drugs promoting the readthrough of nonsense mutations. The consortium gathers together outstanding research and clinical groups with complementary expertise to jointly attack the disease from several fronts. Together we hope to bring new therapies to the clinic.