van der Spuy Lab

Our aim is to understand the molecular basis of and develop treatments for inherited retinal degeneration (IRD). We use patient-derived induced pluripotent stem cells (iPSC) to model IRD by differentiating the iPSC to different tissues of the eye, including retinal pigment epithelium and three-dimensional organoids of the neurosensory retina. These cellular models recapitulate the disease phenotype and are therefore used to understand the molecular basis of disease and the pathways affected and to develop and test appropriate therapeutic strategies targeting the disease mechanisms or pathways. Disease-specific therapeutic strategies under investigation include RNA-directed therapies (antisense oligonucleotide technologies, translational readthrough inducing drugs), gene replacement therapies and gene editing technologies for direct repair of disease-causing mutations.