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