The retina is a highly complex biological system that accommodates both numerous tissue-specific and ubiquitously expressed developmental and pathologic pathways. The number of genes identified in Inherited Retinal Degenerations (IRD) has steadily increased. The commonest cause of blindness, (12.5 Million affected in Europe) Age-Related-Macular-Degeneration (ARMD), is likely to depend on both mostly unknown genetic and modifying factors. Preventing blindness from IRD and ARMD requires the understanding of the genetic and cellular interactions controlling retinal development, maintenance and function. In EVI-GENORET 24 academic and industrial partners form five interacting components (phenotyping, gcnotyping, development, therapy and functional gene analysis) to establish working platforms, share tools and knowledge within and outside the academic community (dissemination through patient organisations and transfer to industrial partners). This IP, spanning from the biology of seeing to the fight against retinal blindness, will implement an accurate clinical and molecular classification of disease, identify novel retinal genes and pathways and define the context dependent functions of these genes in normal and degenerating tissue. We will employ transcriptome, proteomics, protcin-interactome analyses, functional cellular and biochemical assays, biomformatics and model organisms to analyse patterns of gene expression and gene function in retinal development, normal function and degeneration. The unique knowledge base on molecular networks thus generated will facilitate identification and validation of novel therapeutic targets, of broad interest. Developing stem cell culture methods and new approaches to gene and drug delivery mechanisms should provide novel tools for therapy after testing in this privileged organ. An effective project management is ensured by the creation of the European Vision Institute (EVI), a EEIG devoted to #
Keywords:
Vision - Gene expression - Retinal Developement - Photoreceptors - Age-related macular degeneration (AMD) - Retinal Dystrophies - Animal Dystrophies - Animal mutants - Genotype-Phenotype-Correlation #
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