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.

International Kindler Syndrome Network

Project Coordinator

University Medical Center Freiburg Dermatology


Giovanna Zambruno Instituto Dermatologico Dell'Immacolata - IRCCS Laboratory of Molecular and Cell Biology Rome, Italy
Judith Fischer Centre National de Génotypage CNRG componente CNG Evry, France
Peter Bruckner University Hospital Münster Physiological Chemistry and Pathobiochemistry Münster, Germany
Reinhard Fässler Max Planck Institute of Biochemistry Molecular Medicine Martinsried, Germany

This proposal deals with the molecular basis, diagnosis and genotype-phenotype correlations of Kindler syndrome (KS), a rare skin disorder with an intriguing, complex phenotype and high medical / research relevance. KS is caused by mutations in the KIND1 gene and manifests with congenital skin blistering, progressive skin atrophy, generalized poikiloderma, photosensitivity, chronic mucosal involvement and increased risk of epithelial cancer. Due to its rarity KS is not well known, but efficient molecular diagnostics, competent management and accurate information for medical professionals are urgently needed to improve quality of life of affected individuals and to reduce medical costs. Understanding of molecular disease mechanisms of KS will not only deliver indirect information on normal functions of the skin but also form a basis for biologically valid therapy strategies. Besides, due to phenotypic similarity to other conditions, KS constitutes an optimal research model for other socio-economically important pathologies, such as (premature) aging, tissue atrophies, photosensitivity and carcinogenesis - The work of this multidisciplinary consortium aims at generating larger, well-characterized international KS patient cohorts as a basis for research. Kindlernet infrastructure includes a coordinating office, an Internet-based remote entry database with patient registry, material bank and website, clinical-diagnostic centers and research laboratories. The research aims at understanding the causes and molecular disease mechanisms of KS. We will address such questions combining clinical and molecular genetics, molecular and cell biology, structural and biochemical analysis of human cells / tissues and mouse models. The consortium partners are internationally recognized physicians and scientists from Germany, France and Italy who work on KS, genetics, epithelial and basement membrane biology, and structural proteins. All have experience in coordinating or working in national or European research consortia. The combination of their expertise constitutes an optimal starting point for coordinated collaborations on KS and significant synergies. The activities of Kindlernet will form a basis for a future, larger European network on KS and related conditions, including specialists who are not eligible to participate in the current call.

E-Rare 2012 - Created by Toussaint Biger