HEREDITARY RETINAL DISEASES
From patient to therapy
HOPE is a research network as part of the “Rare Diseases” funding program of the Federal Ministry of Education and Research (BMBF) and was funded in an initial funding phase from 2009 to 2012 . The promising results of this first funding phase resulted in the funding being continued (2nd phase from 2012 – 2015).
The 7 partners of the 'HOPE' joint project are engaged in research into the clinical and genetics of hereditary retinal diseases, which represent a heterogeneous group of mostly rare eye diseases. It is characterized by functional failures in the reception and transmission of stimuli within the retina, which lead to loss of visual acuity, increased stimulus thresholds, restrictions or failures in the visual field and/or color vision deficiencies. The pathology affects the photoreceptors, the supplying retinal pigment epithelium and/or the first-order processing neurons. There are around 30,000 people affected in Germany alone. Blindness results in a loss of quality of life, high risk of injury from accidents, and enormously increased socio-economic costs associated with the generally normal life expectancy of these patients. To date there is no effective therapy. The modern state of knowledge in human genetics, approaches to correlating functional and imaging data, the direct accessibility of the neuroretina for non-invasive electrophysiological and imaging diagnostic procedures and the immune-privileged status of the eye favor the development of conceptually new diagnostic and therapeutic options in the next few years.
Revolutionary discoveries to impact society
HOPE aims at improving and refining the diagnostics of HRDs and at developing new therapeutic strategies close to human application.
Bridging the gap between genetic discovery and therapy for 30,000+ affected individuals in Germany.
30,000+ patients in Germany lack effective treatments
7 leading partners uniting genetics, ophthalmology, and bioengineering
2 funded phases (2009–2015) delivering actionable insights
Unique experiences to drive engagement
TASKS AND GOALS OF THE HOPE RESEARCH ASSOCIATION
Building on the progress and results of the first funding period, the following goals are to be achieved in this project:
Improvement and further development of clinical-genetic diagnostics of hereditary retinal diseases
Clarification of the genetic causes of hereditary retinal diseases
Identification, application strategy and validation of neuroprotective substances for the treatment of hereditary retinal diseases
Due to the accessibility of the neuroretina on the one hand for clinical-functional examinations and on the other hand for surgical interventions and topical application systems, as well as the immune-privileged status of the eye, this neuronal system is an excellent model for developing new forms of therapy from innovative diagnostics in a timely manner to apply. In this respect, the development and application of such forms of therapy for hereditary retinal diseases also has the potential to be a proof-of-concept for other neurodegenerative diseases. We believe this ambitious goal can be achieved within a period of 10 years.
The project partners in the 'HOPE' consortium focus their research on the following topics:
Clinical phenotyping and genotype-based investigation of patients with inherited retinal diseases; Establishment of patient cohorts for future therapy studies
Integrated clinical genetic diagnostics and standardized examination protocols for patients with hereditary retinal diseases
Identification of new disease genes for inherited retinal diseases using genomic technologies
Validation of bioactive substances with therapeutic potential for hereditary retinal diseases
Validation of CellBead technology for the application of a neuroprotective treatment in preclinical studies
Optimization of the implantation technology for using CellBeads in the eye; Safety and efficacy evaluation in animal models of retinal degeneration
2009–2012 (Phase 1): Established genotype-phenotype correlations
Collaborate with us to accelerate IRD breakthroughs.
Invest in cutting-edge science to prevent blindness.
2012–2015 (Phase 2): Advanced gene therapy vectors & biomarkers
Every discovery brings the world into focus.
Since 2009, HOPE has pioneered interdisciplinary collaborations to combat blindness from inherited retinal diseases (IRDs).
Novel therapeutic strategies leveraging the eye’s immune-privilege
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