The research projects
The overall goal of the research projects in the SPP 2127 is to develop methods and tools for efficient gene or cell therapies for IRDs and their clinical evaluation to start clinical trials in human patients at the end of the funding period of six years.
The research projects of the SPP 2127 focus on different aspects of therapies for IRDs.
Hereditary disorders including those affecting the eye are caused by mutations in one (i.e. monogenic disorders) or several (multigenic disorders) genes. Especially in the eye, where mutations often cause non-lethal disorders with severe impact on vision and therefore on quality of life, a huge genetic and phenotypic heterogeneity of different disorders has been discovered over time (Berger et al, 2010).
Inherited retinal dystrophies (IRDs) are caused by mutations in more then 200 genes identified to date and are clinically challenging to categorize.
Specific advantages of the eye as target tissue, such as easy accessibility of the highly organized retinal layers, the possibility to monitor treatment effects and the relatively small size, have positioned this organ at the forefront of gene therapeutic developments over the past years (Boye et al. 2013).
The SPP 2127 is structured into four areas of research projects
