Recent advances in early-onset severe retinal degeneration: more than just basic research

Markus N Preising, Steffen Heegaard

Abstract

Successful treatment of early-onset sever retinal degeneration (EOSRD) in an animal model of the disease has provided the first proof-o-principle for retinal gene therapy of higher mammals. Currently, large sets of DNA samples are screened to identify patients with Leber's congenital amaurosis (LCA) carrying mutations in RPE65 as possible candidates for gene therapy trials. Research into EOSRD and LCA aims to identify the function of proteins involved or phenotypic changes upon mutation. These data will be used to describe the disease phenotype and identify parameters that can predict the outcome of gene therapy trials.

OriginalsprogEngelsk
TidsskriftTrends in Molecular Medicine
Vol/bind10
Udgave nummer2
Sider (fra-til)51-4
Antal sider4
ISSN1471-4914
DOI
StatusUdgivet - feb. 2004
Udgivet eksterntJa

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