European Training Network to Diagnose, Understand and Treat Stargardt Disease, a Frequent Inherited Blinding Disorder - StarT

01 July 2022 → 30 June 2023
Regional and community funding: Special Research Fund
Research disciplines
  • Natural sciences
    • Bioinformatics data integration and network biology
    • Bioinformatics of disease
  • Medical and health sciences
    • Epigenetics
    • Genetics
    • Ophtalmology
Inherited retinal disease (IRD) Stargardt disease ABCA4 cis-regulatory element (CRE) enhancer multi-omics single-cell lncRNA retina
Project description

This project deals with the assessment of the non-coding morbid genome as a possible source of hidden variation in ABCA4-associated disease, and with the functional interrogation of non-coding variants located in cis-regulatory elements and non-coding RNAs to understand disease pathogenesis. Results from this project will provide novel insight into gene regulation and IRD pathogenesis, which may ultimately entail therapeutic perspectives.