Code
01D30122
Looptijd
01-10-2022 → 31-10-2023
Financiering
Regional and community funding: Special Research Fund
Promotor
Fellow
Onderzoeksdisciplines
-
Medical and health sciences
- Developmental biology
- Genetics
- Stem cell biology
- Ophthalmology
Trefwoorden
RCBTB1-geassocieerde netvliesblindheid
Xenopus tropicalis
geïnduceerde pluripotente stamcellen
Projectomschrijving
We identified RCBTB1 as novel disease gene for inherited retinal disease. Proof-of-concept from a
Xenopus tropicalis rcbtb1 knockout and human deep phenotyping led to the hypothesis that
RCBTB1-disease affects RPE-biology. Key objectives are to understand RPE-disease progression
at the organismal level in the Xenopus tropicalis rcbtb1 knockout and in a patient-derived RPE
cellular model, and to characterize the subcellular level in the two models developed.