Latest Publication: Unravelling genotype-phenotype correlations in Stargardt disease using patient-derived retinal organoids
The results generated in this publication provide invaluable insights into the pathology of STGD1. More specifically, the study has enabled genetic resolution of unresolved monoallelic cases of STGD1. Furthermore, the development and characterisation of the STGD1-RO has been pivotal in demonstrating photoreceptor mis-localisation and showing that cones are more susceptible to degeneration than rod photoreceptors in those patients-derived RO. It also highlighted that genotype-phenotype correlations are possible in vitro, with variant-induced molecular pathology, making this model a powerful tool for drug development, in vitro toxicology, and further disease modelling.
Newcells Biotech, in collaboration with Newcastle University, is proud to announce a new scientific publication showcasing cutting-edge research into Stargardt disease. In this study patient-derived retinal organoids were generated to model the disease, providing vital insights into its genetic and cellular defects.
Stargardt disease is the most common form of inherited macular degeneration, caused primarily by mutations in the ABCA4 gene. By generating three-dimensional retinal organoids from patient-derived induced pluripotent stem cells (iPSCs), researchers have developed a powerful tool to study disease progression at the cellular level and identify potential therapeutic targets.
This breakthrough study highlights the potential of retinal organoids in advancing drug discovery and precision medicine for retinal disorders, bring us closer to developing effective treatments.
The Key Points
- This publication presents the first demonstration of STGD1 ROs exhibiting a phenotypic defect characterised by photoreceptor mislocalisation, which correlates in intensity with disease severity.
- The STGD1 ROs recapitulated functional splicing defects, displayed gene dysregulation in stress-response and photo-transduction pathways, indicating that the model can recapitulate STGD1 phenotypes in vitro.
- The model allowed for genetic resolution of previously unsolved monoallelic cases.
To learn more about Newcells’ Retinal Organoids, click here.
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