Pathomechanistic study of RCBTB1-associated inherited retinal disease using Xenopus tropicalis and patient-derived induced pluripotent stem cells

01 October 2022 → 31 October 2023
Regional and community funding: Special Research Fund
Research disciplines
  • Medical and health sciences
    • Developmental biology
    • Genetics
    • Stem cell biology
    • Ophtalmology
RCBTB1-associated inherited retinal disease Xenopus tropicalis induced pluripotent stem cells
Project description

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.