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Functional genomics of the retina in health and disease

Final Report Summary - EVI-GENORET (Functional Genomics of the Retina in Health and Disease)

Over 15 million people in Europe have impaired vision and 2.7 million people are totally blind. The number of people suffering from serious visual impairment is constantly growing, a phenomenon related (at least in part) to the rapidly aging population. This paradox also reflects the fact that mechanisms underlying the evolution of the retinal disorders towards blindness are yet scarcely understood and therapeutic strategies to stemming or repair retinal damage are insufficient.

Understanding the genetic causes of blindness is critical to reinforce the prevention of vision loss, as the commonest causes of blindness: Age-related macular degeneration (AMD), retinitis pigmentosa and numerous rarer inherited blinding diseases are likely associated with mostly unknown genetic and modifying factors. Saving sight through understanding the genetics and cellular mechanisms underlying the retinal development, maintenance and function was the overarching goal of the EVI-GENORET project.

The EVI-GENORET project aimed at building-up understanding of the fundamental molecular and cellular biology of the retina, of its development and the way it is perturbed by genetic mutations, environmental factors and age. For this purpose, a multidisciplinary approach with five interacting components from academic and industrial partners (phenotyping, genotyping, functional gene analysis, development and therapeutic strategies) has been implemented.

Within these objectives and to be able to spanning the research from biology of vision to fight against retinal blindness, an elaboration of accurate clinical and molecular classification of retinal degenerations has been implemented, together with the identification of novel retinal genes and pathways controlling their functions. The ultimate objectives of EVI-GENORET was to generate conceptual and biological models of genes, gene networks and pathways relevant to major the functions involved in the retinal health and disease to optimize the quality of science and care in retinal degeneration.

In the EVI-GENORET consortium, 21 academic, 2 industrial partners and 1 patient organisation formed 5 interacting components to establish working platforms, share tools and knowledge within and outside the academic community.

The EVI-GENORET Database and Secure Website is mainly dedicated to integrate the large amount of biological and clinical heterogeneous data provided by the consortium members. First the database centralizes and organizes the documents related to SOPs, SEPs and various lab experiment resources such as antibodies, primers, DNA samples, etc.

The system wants to act as a data warehouse for patient data as well as a node connecting remote patient databases hosted in other consortium centres. Tools were developed to integrate, as automated as possible, the heterogeneous formats of clinical data provided by different clinicians. This concerns for example the integration of Excel files (JavOO) or the direct connection to distant databases as well as the creation of complex relational databases allowing cross queries within all available information.

Many specific developments have been set up to integrate and interconnect all components of the consortium. Starting from ImAnno, the in situ hybridization image annotation tool created for the component B Development for the study of the mouse embryo development, we are able to query or diffuse the information of their 1 667 genes all over the EVI-GENORET Database. In the same way the proteomics and transcriptomics information provided by the component E Functional Genomics has been be dynamically incorporated in the data network.