An in vitro, light responsive, retinal model for accurate predictions of in vivo outcomes you can have confidence in.
Newcells iPSC technology generates functional retinal organoids and retinal pigment epithelial cells (RPEC) to model healthy human retina. Advances in gene editing technology have allowed for the engineering of cells that contain mutations associated with inherited retinopathies that can be used for retinopathy disease modelling studies.
Inherited retinopathies affect 1 in 2,000-3,000 individuals with over 300 genes in the human genome associated with these diseases. Retinal cell death leads to loss of vision in both complex, multigenic age-related eye diseases such as age-related macular degeneration (AMD), and monogenic eye diseases such as retinitis pigmentosa (RP), Stargardt disease, Usher’s syndrome and Leber congenital amaurosis. Retinitis pigmentosa (RP) is one of the most common forms of hereditary progressive sight loss. Clinical features of RP begin with night blindness, followed by the gradual loss of the peripheral visual field, eventually resulting in so called ‘tunnel vision’ or even complete blindness. A large number of cases arise as a result of autosomal dominant mode of inheritance. Given the complexity of these diseases, in vitro models of the human retina derived from patients, could provide a valuable insight into the mechanism and potential treatments. Newcells retinal in vitro platform is an essential tool to understand the phenotypes and molecular mechanisms of disease. It has been used in retinopathy disease modelling with one of the most common autosomal dominant mutations associate with RP; the mutation in pre-mRNA processing factor 31 (PRPF31), characteristic of RP Type 11.
Platform for retinopathy disease modelling: The generation of retinal organoids from RP Type 11 patients allows the elucidation of the mechanism of retinal dysfunction. Large-scale transcriptomic analyses identified mis-splicing of target genes affected by PRPF31 mutations, providing molecular characterisation of splicing-factor RP clinical phenotypes. Cellular defects unravelled include dysfunctional RPE, disrupted cilia morphology in photoreceptors, progressive cellular degeneration and cellular stress. The cellular phenotype was rescued by CRISPR-Cas 9 gene editing.
First demonstration of the cellular phenotypes associated with RP using patient derived organoids and companion RPEs
This work and expertise was established in Newcells Biotech co-founder’s lab Prof. Lako
Professor of Stem Cell Sciences, Biosciences Institute, Faculty of Medical Sciences,
References for this page
Buskin A, et al., Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa. Nat Commun. 2018 Oct 12;9(1):4234. doi: 10.1038/s41467-018-06448-y.
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