German Networks on Rare Diseases

Hereditary Retinal Disorders

From Patients Towards Therapies

'HOPE' is a disease-specific network for rare diseases funded by the Federal Ministry of Education and Research (BMBF) in a first funding period from 2009 until 2012 (see HOPE-1). The promising results of the first funding period resulted in a continuation of funding for the next 3 years (second period 2012 – 2015).

Research of the 7 participants of the HOPE project focuses on hereditary retinal disorders, a heterogeneous group of mostly rare ocular diseases. (Link zu "What are Hereditary Retinal Disorders") with impaired light sensing and/or signal transmission within the neuroretina that causes loss of visual acuity, elevation of detection thresholds, constrictions or defects of the visual field and/or colour vision defects. The pathology affects the photoreceptors, the retinal pigment epithelium and/or the processing and transmitting first order neurons. Approximately 30.000 people in Germany are affected. Blindness results in loss of life quality, high risks for accidental injury and tremendous socio-economic costs associated with generally normal life expectancies of the patients. There is currently no effective cure available. The advanced knowledge in human genetics, the combination and correlation of multiple imaging technologies with visual function analysis, the direct accessibility of the neuroretina for non-invasive electrophysiological and imaging technologies and the immune-privileged status of the eye favour the development of conceptually new diagnosis and therapy in the next few years.