Project

Functional study of a novel, long non-coding RNA (lncRNA) upstream of ABCA4 in retina and blindness

Code
01D22922
Looptijd
01-11-2022 → 31-10-2026
Financiering
Regional and community funding: Special Research Fund
Onderzoeksdisciplines
  • Medical and health sciences
    • Genetics
    • Ophthalmology
    • Clinical genetics and molecular diagnostics
Trefwoorden
Erfelijke blindheid ziekte van Stargardt ABCA4 lang niet-coderend RNA missing heritability
 
Projectomschrijving

Up to 40% of patients with inherited blindness remain molecularly unsolved, leading to increasing interest in non-coding regions. Here, we aim to characterize a novel retina-specific long non-coding RNA (lncRNA) located in the topologically associating domain of the ABCA4 disease gene by performing functional studies and determining its role in disease. This study will be exemplary for future lncRNA-studies.