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.

The Netherlands
Identification of revertant mosaicism in epidermolysis bullosa and subsequently using the revertant keratinocytes in a pre-clinical mouse model suitable to test revertant cell therapy

Project Coordinator

University Medical Center Groningen Dermatology
The Netherlands


Leena Bruckner-Tuderman University Medical Center Freiburg Dermatology Freiburg, Germany
Marcela Delrio Energéticas, Medioambivalentes y Tecnologicas and Centro de Investigaciones Biomédicas en Red en Enfermedades Raras Epithelial Cell Division Basic Research Department U714 Madrid, Spain

Epidermolysis bullosa (EB) is a hereditary disease characterized by blistering of the skin following minor friction or mechanical trauma. The condition varies from limited blisters in the skin to a lethal form involving internal epithelial lining. The management of EB is mainly supportive with symptomathic treatment, since currently no cure exists. In 1997, patches of unaffected skin were discovered on the hands and upper arms in a patient with EB. This natural correction was named “revertant mosaicism”. Since then, in a subset of Dutch patients revertant mosaicism was identified in 33-36%. However, only 2 other revertant EB cases have been identified outside the Netherlands. Our first aim is to share the knowledge from Groningen with the Center in Freiburg in order to identify more patients with EB and revertant mosaicism (aim 1). In addition, to increase the awareness among genodermatologists working with EB, we will organize an International Workshop on Revertant Mosaicism in EB (aim 2). Revertant mosaicism attests to the feasibility of cell therapy using the patient’s own naturally corrected cells for autotransplantation, and thereby circumvents the restrictions of genetic modification. Before a start can be made for successful cell therapy, optimal growth and selection conditions need to be identified (aim 3). The revertant keratinocytes will be subsequently used to generate a skin equivalent (aim 4) and tested in a skin-humanized mouse model suitable to test revertant cell therapy (aim 5).

E-Rare 2012 - Created by Toussaint Biger