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Third-party-funded project

A gene anatomy atlas ot the retina in health and disease

Project management at the University of Würzburg:

Participating scientists:

It is the goal of the present project to establish a comprehensive catalogue of retinal transcripts and to assess their contribution to human retinal disease, with particular emphasis on the genetically complex AMD. We argue that genes expressed specifically or abundantly in the human retina should play an important functional role in this tissue and therefore may causally be involved in retinal disease. We plan to utilize expressed sequence tags (EST) available from retina cDNA libraries, to identify the full-length transcripts and to determine their genomic structure. Our approach is based on the predicitive value of the in silico expression profile of established EST clusters that represent a single gene. EST clusters showing a high level of representation in retina cDNA libraries are chosen for further expression analysis by reverse transcriptase (RT)-PCR and Northern blot hybridization. Mutational analyses of candidate retinal genes will then be performed in single-gene retinopathies as well as in a large set of clinically well defined AMD patients and age-matched controls. This approach represents a first systematic attempt to characterize the molecular basis of the normal and diseased human retina. The results of this study are expected to provide a starting point for further research into the physiological processes of the normal retina but may also generate promising new targets for pharmacological research into novel drug developments.

Key words:
    age-related macular degeneration
    retina-specific transcript

Projekt period: from 01.2000 to 01.2003

Funding institution:
Bund ,Granting date: 21.10.1999


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