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International Kindler Syndrome Network (Kindlernet)

Kindler Syndrome

Kindler syndrome (KS; OMIM 173650) is a very rare heritable skin disorder with an intriguing complex phenotype, which still is incompletely understood. KS is caused by mutations in the KIND1 gene. The disease begins with congenital skin blistering and photosensitivity, which improve with age, and continues with progressive generalized poikiloderma and extensive skin atrophy. Additional clinical features include chronic gingival erosions, esophageal and gastrointestinal involvement and an increased risk of mucocutaneous malignancy. Due to its rarity KS is not well known; patients are often misdiagnosed and do not receive the correct diagnosis until adulthood. KS has a high personal, medical and socio-economic impact on the life of the affected individuals and their families. Complications occur commonly, since also other epithelial organs can be affected and, in addition to life-long daily skin care, other medical treatments are frequently required. Currently, no disease-modifying specific cure exists for KS.

The Kindlernet

Kindlernet deals with Kindler syndrome (KS), a very rare skin disorder caused by mutations in the KIND1 gene. It manifests with skin blistering, photosensitivity, progressive poikiloderma and mucosal involvement, and increased risk of epithelial cancer. KS is not well known, and efficient 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. This consortium aims at generating international KS patient cohorts as a basis for research. Kindlernet infrastructure includes a coordinating office, an Internet-based remote entry database with patient registry and material bank, clinical-diagnostic centers and research laboratories. The research combines clinical and molecular genetics, molecular and cell biology, structural and biochemical analysis of human tissues and mouse models, with the goal of understanding the causes and disease mechanisms of KS as a basis for development of molecular therapies. The partners are internationally known physicians and scientists with expertise on KS, genetics, epithelial and basement membrane biology, and structural proteins. The combination of their research will deliver significant synergies and, thus, Kindlernet will form a basis for a future, larger European network on KS and related conditions.

The consortium

Prof. Leena Bruckner-Tuderman
Coordinator
Department of Dermatology, University Medical Center Freiburg, Germany

Prof. Peter Bruckner
Department of Physiological Chemistry and Pathobiochemistry; University Hospital Münster, Germany

Prof. Reinhard Fässler
Department of Molecular Medicine, Max Planck Institute of Biochemistry, Martinsried, Germany

Dr. Judith Fischer
CEA, Institut de Génomique, Centre National de Génotypage, Evry, France

Dr. Giovanna Zambruno
Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata - IRCCS, Italy

International Advisory Board

Prof. Monique Aumailley
Center for Biochemistry, University of Cologne, Germany

Prof. Irwin Mclean
Division of Molecular Medicine, College of Life Sciences, University of Dundee, UK


Prof. Eli Sprecher
Department of Dermatology, Tel Aviv Medical Center; Israel

Contact

Kindlernet
Coordination and Communication Center
Daniela Kirstein
Department of Dermatology
University Medical Center Freiburg
Hauptstr. 7, D-79104 Freiburg
eb-zentrum@uniklinik-freiburg.de
phone +49 (0) 761 270-66140
fax +49 (0) 761 270-67910