Eye diseases are among the most common inherited human disorders. Around one third of the known genetic defects or syndromes involve the eye. Vision research has often blazed a trail for many disciplines to follow, giving a lead in omics, genome editing, stem cell biology, animal models of disease, and the development of novel therapeutic approaches such as gene therapy.

StarT will create an interdisciplinary and intersectorial European training network focusing on different aspects of autosomal recessive Stargardt disease (STGD1), a frequent inherited blinding disorder that affects an estimated 925,000 persons worldwide, representing more than one-third of all inherited retinal disorders. StarT research aims to uncover the regulation of its disease gene ABCA4 and its missing heritability, in order to develop novel treatments.

STGD1 is due to ABCA4 mutations, however up to 35% of STGD1 cases carries one or no ABCA4 coding mutation. New unconventional classes of ABCA4 mutations were recently discovered by us, the significance of which largely remains elusive. In order to understand the mechanisms triggered by these missing ABCA4 mutations and to design new therapies for STGD1 cases, challenging research questions will be addressed by the integration of unique skills from this network.

Early-Stage Researchers will perform cutting edge research using innovative and interdisciplinary approaches: (functional) genomics and transcriptomics, bio-informatics, CRISPR/Cas9 genome editing, generation of stem cell and animal disease models and design of new treatments.
Within the Tübingen Project the Early-Stage-Researcher will assess several CRISPR-Cas9-based approaches to rescue deep intronic mutations leading to splicing defects.