Project

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

Code
01D22922
Duration
01 November 2022 → 31 October 2026
Funding
Regional and community funding: Special Research Fund
Research disciplines
  • Medical and health sciences
    • Genetics
    • Ophtalmology
    • Clinical genetics and molecular diagnostics
Keywords
Inherited retinal disease Stargardt disease ABCA4 long non-coding RNA missing heritability
 
Project description

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.