Project

Genotypes, Phenotypes & Treatment in Ophthalmic Genetics

Code
bof/baf/2y/2024/01/050
Duration
01 January 2024 → 31 December 2024
Funding
Regional and community funding: Special Research Fund
Promotor
Research disciplines
  • Medical and health sciences
    • General diagnostics
    • Ophthalmology
    • Clinical genetics and molecular diagnostics
Keywords
ophthalmic genetics gene therapy inherited retinal disorders
 
Project description

Inherited retinal disorders (IRDs) are rare eye conditions affecting the retina’s ability to translate light into electrical signals. Recent advances in the field of IRDs has led to the development of ocular gene therapies targeted at the retinal cells involved in the condition under study. Voretigene neparvovec is the first such treatment for RPE65-IRD successfully introduced to market in the EU and elsewhere. We are the national expertise center applying this treatment in Belgium. Voretigene neparvovec (VN) is an adeno-associated virus (AAV) based treatment applied by subretinal injection during a vitrectomy. It uses AAV2 to carry an RPE65 cDNA with a chicken beta-actin promotor targeting retinal pigment epithelial cells. The gene encodes an isomerase essential to recycle all-trans retinal to 11-cis retinal, part of the visual cycle.Having been part of the development team of VN has put us in prime position to assist development of other innovative therapies for IRDs. Hence, it is crucial to have a profound understanding of the pathogenesis of the different types of IRDs and to develop endpoints to measure treatment effect. This is our main research focus.