Research Explorer

Project

European Training Network to Diagnose, Understand and Treat Stargardt Disease, a Frequent Inherited Blinding Disorder - StarT
Code
01IT1422
Looptijd
01-07-2022 → 30-06-2023
Financiering
Regional and community funding: Special Research Fund
Onderzoeksdisciplines
  • Natural sciences
    • Bioinformatics data integration and network biology
    • Bioinformatics of disease
  • Medical and health sciences
    • Epigenetics
    • Genetics
    • Ophthalmology
Trefwoorden
erfelijke netvliesaandoeningen ziekte van Stargardt ABCA4 cis-regulatorisch element (CRE) enhancer multi-omics single-cell lncRNA retina.
 
Projectomschrijving
 

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.