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Project

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

This project aims to map the cis-regulatory landscape of ABCA4 and to characterize ultraconserved non-coding elements in human retina and retinal pigment epithelium. This is achieved by highresolution chromatin interaction profiling (UMI-4C, HiChIP) and by the integration of multi-omics bulk
and single-cell datasets. Ultimately this may gain insight into missing heritability of inherited retinal diseases (IRD) such as ABCA4-associated disease.

Date:1 May 2022 →  30 Apr 2023
Keywords:enhancer, multi-omics, ABCA4, retina, ultraconserved non-coding element (UCNE), retinal pigment epithelium, Stargardt, single-cell, Inherited retinal disease (IRD), cis-regulatory element (CRE), UMI-4C, topologically associated domain (TAD)
Disciplines:Genetics, Ophthalmology, Epigenetics, Bioinformatics of disease, Bioinformatics data integration and network biology