Research for Rare - Research for rare diseases

HOPE – Network for Hereditary Retinal Disorders

Hereditary retinal disorders (HRDs) represent a very heterogeneous group of blinding diseases affecting about 30.000 people in Germany. HRDs do not only cause tremendous socio-economic costs but also severely impair life quality for a long period of time. In Germany, clinical patient care and the availability of integrated diagnostics for HRDs is not well established and most importantly, there is currently no effective cure available, although the accessibility of the retina to both, clinical investigations and surgical intervention and its immune-privileged status favour the development of rational therapies and improved clinical markers. Addressing these problems HOPE will focus on the following topics: (1) defining the natural history of cone-rod dystrophies and the identification of clinical markers suitable to monitor disease progression and future therapeutic efficacy, (2) establishing structures for integrated ophthalmological and genetic diagnostic services including the evaluation of next generation sequencing for routine genetic testing, (3) identification of novel HRD disease genes by application of genomic technologies and evaluation of cis-eQTLs as genetic modifiers (4) evaluation of the therapeutic potency of novel neurotrophic factors and their application using cell-based delivery, (5) miniaturization and application of biopolymer encapsulated cells that secrete bioactive substances in animal models for HRD, and (6) monitoring of therapeutic efficacy by visual function testing and in vivo morphology as well as histological and ultrastructural analyses.

Projekte
Kontakt
Prof. Dr. Bernd Wissinger
Eberhard-Karls-Universität Tübingen
Universitätsklinikum und Medizinische Fakultät
Department für Augenheilkunde
Röntgenweg 11
72076 Tübingen
Tel.: 07071 29-85032
Fax: 07071 29-5725
E-Mail: wissinger@uni-tuebingen.de
Internet: http://www.rd-hope.de/
Publications