Research Explorer

Project

European Training Network to Diagnose, Understand and Treat Stargardt Disease, a Frequent Inherited Blinding Disorder - StarT
Code
01IT0622
Duration
01 May 2022 → 30 April 2023
Funding
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
    • Ophthalmology
Keywords
Inherited retinal disease (IRD) Stargardt ABCA4 cis-regulatory element (CRE) enhancer UMI-4C multi-omics single-cell topologically associated domain (TAD) retina retinal pigment epithelium ultraconserved non-coding element (UCNE)
 
Project description

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.