Funding transnational collaborative research through joint transnational calls is one of the major objectives of E-Rare. This is the most important and effective joint activity to enhance the cooperation between European scientists working on rare diseases and thus reducing the fragmentation of research in this field. E-Rare launches calls on a yearly basis. The topic and eligibility criteria are specified every year and therefore may vary from one call to the other.

Mutation-targeted gene and pharmacological therapies for dystrophic and junctional Epidermolysis Bullosa

Project Coordinator

Centro de Investigación Biomédica en Red (CIBER) de enfermedades raras (CIBERER)


Alain Hovnanian INSERM 1168 - IMAGINE Paris, France
Cristina Has University of Freiburg Freiburg, Germany
Michel Roberge University of British Columbia Vancouver, Canada

The goal of translating new experimental therapies for rare diseases to the clinic remains a formidable challenge. Inherited skin fragility disorders such as Epidermolysis Bullosa (EB) are currently the target of promising therapeutic approaches, some already in clinical trials. While standard ex vivo gene therapy strategies for different forms of EB are valid, they remain costly and are subject to tough health regulatory policies. They also pose potential genotoxic risks. Therefore, new, innovative, safer and efficacious approaches to restore expression of adhesive skin proteins in EB patients should be explored. With this premise in mind and 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 surrogate skin-humanized mouse models that faithfully recapitulate the human EB skin conditions. The therapies are : i) nuclease-facilitated, NHEJ-driven gene edition to remove and replace mutations, ii) antisense oligonucleotides enabling splicing modulation (skipping) of mutant exons and iii) new drugs promoting the readthrough of nonsense mutations. The MuTaEB 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.

E-Rare 2012 - Created by Toussaint Biger