Medical and health sciences
The ATP-binding cassette transporter gene (ABCA4) is the causal gene for Stargardt disease (STGD1), an inherited blinding disorder that affects an estimated 925 000 people worldwide. ABCA4 mutations are the most common cause of inherited retinal diseases leading to severe visual impairment and blindness. Funded by the Marie Skłodowska-Curie Actions programme, the StarT project is creating an interdisciplinary research training network focusing on all aspects of STGD1 to develop novel treatments. The early stage researchers in training will uncover the regulation of the ABCA4 gene and its missing heritability using innovative approaches, including functional genomics and transcriptomics, bioinformatics, genome editing, stem cells and animal disease models. The aim is to apply this knowledge to the design of new therapies.