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European young investigators network for Usher syndrome awarded E-Rare collab project
Date:11/13/2013

vement of Usher clinical diagnosis and the elaboration of significant markers for Usher disease progression. Results of the study will be uploaded into the newly established EUR-USH database. In the second segment, work groups in the Netherlands and Germany will concentrate on identifying the molecular pathogenesis of Usher syndrome. By applying proteomic and imaging approaches they aim to identify novel members of the USH interactome to unravel common cellular pathways in which USH proteins are involved and provide candidates or modifier genes for USH and related retinal degenerations. In the third segment, groups will be developing treatment methods for the ophthalmologic component of the disease. They will evaluate two different approaches, gene augmentation and translational read-though, to treat the progressive retinal degeneration of Usher syndrome patients.

The scientists hope that the interdisciplinary collaboration will help further understanding of the clinical, genetic, and molecular background of Usher syndrome and will provide a valuable contribution to possible treatment approaches. The primary objective of the European research team is to improve the quality of life for Usher patients.


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Contact: Dr. Kerstin Nagel-Wolfrum
nagelwol@uni-mainz.de
49-613-139-20131
Johannes Gutenberg Universitaet Mainz
Source:Eurekalert

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