Wissinger Lab

Molecular Genetics Laboratory

Hereditary Retinal Disorders: From Patients towards Therapies


Hereditary retinal disorders (HRDs) represent a very heterogeneous group of blinding diseases affecting about 30.000 people in Germany. 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.
Project Coordinator:Bernd Wissinger
Other Partners:Susanne Kohl, Regine Mühlfriedel, Mathias Seeliger, Marius Ueffing Thomas Wheeler-Schilling, Eberhart Zrenner (Institute of Ophthalmic Research, Tübingen), Uwe Wolfrum (Institute of Zoology, Cell and Matrix Biology, Johannes Gutenberg University of Mainz), Bernhard Weber (Institute of Human Genetics, University of Regensburg) Sefanie Hauck (Helmholtz Zentrum München), CellMed AG (Alzenau), Frans Badura (Pro Retina-Stiftung)
Funding Agency:BMBF-DLR (Program Networks for Rare Disease), Contract-No. 01 GM 1108A
Funding Period:04/2012 – 03/2015