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Project
European Training Network to Diagnose, Understand and Treat Stargardt Disease, a Frequent Inherited Blinding Disorder - StarT
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.
Date:1 Jul 2022 → 30 Jun 2023
Keywords:lncRNA, Inherited retinal disease (IRD), Stargardt disease, multi-omics, cis-regulatory element (CRE), ABCA4, retina, enhancer, single-cell
Disciplines:Genetics, Bioinformatics data integration and network biology, Bioinformatics of disease, Epigenetics, Ophthalmology