Components

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This text was iitially taken from "The Final Version of the Technical Annex (TA/Annex I) of ‘EVI-GenoRet’"

See also the similar text] describing Components in EVI-Genoret Database

Component A: Phenotyping Translating knowledge of pathological conditions into clues for disease mechanisms, gene identification and therapeutic strategies, by in depth analysis and establishment of standards for phenotyping these conditions, thereby allowing improved genotyping.

   * WP1 Phenotyping, tissue and DNA collection in patients with age-related macular disease (AMD).
   * WP2 Phenotyping of Monogenic Retinal Dystrophies (MRD)
   * WP3 Assessment of retinal function and morphology and evaluation of therapeutic strategies in animal models of retinal degeneration

Component B: Development Identification of molecular and cellular differentiation pathways involved in normal and disease-associated retinal development, using model organisms.

   * WP4 Expression of key developmental regulators in the retina, and in stem cells
   * WP5 Derivation and characterisation of stem cells with therapeutic potential
   * WP6 Functional studies of eye development pathways in model systems

Component C: Genetics Identification and functional analysis of disease-associated genes in humans using positional cloning, linkage analysis. - i.e. experimental genetic approaches and in silico analysis with model system validation.

   * WP7 Genetic mapping and gene identification of a novel monogenic retinal dystrophy
   * WP8 Role of RPE-expressed genes in monogenic and complex retinal disorders, including age-related macular degeneration.

Component D: Therapy Through new strategies for controlling gene expression, analysis of host response to therapy and identification of novel preventive therapeutic mechanisms.

   * WP9 Strategies for controlling gene expression
   * WP10 Functional genomics of the host retinal response to cell and tissue based therapies
   * WP11 Identification of therapeutic agents and their signalling mechanisms

Component E: Functional genomics Establishment of standardised protocols, utilisation of bioinformatic and laboratory methods for analysis of gene regulation and transcriptome complexity, assessments of the retinal proteome and protein interactions.

   * WP12 Transcriptional regulation in retinal cells
   * WP13 Proteomic analysis of retinal proteins
   * WP14 Bioinformatics and comparative genomics
   * WP15 Functional analysis and functional assays

Transversal instruments

   * WP16 Development of methods and standard operation procedures (SOPs) for handling and processing biological materials and data, quality assessment.
   * WP17 Management and dissemination
   * WP18 Establishment of an internal ethics review board
   * WP19 EVI-GENORET Training activities