Britta Nommiste

TL;DR: This work supports the feasibility and safety of hESC-RPE patch transplantation as a regenerative strategy for AMD and presents the preclinical surgical, cell safety and tumorigenicity studies leading to trial approval.

TL;DR: The first proof-of-concept study to demonstrate successful read-through and restoration of RP2 function for the R120X nonsense mutation and the ability of the restored RP2 protein level to reverse the observed cellular phenotypes in cells lacking RP2 indicates that translational read- through could be clinically beneficial for patients.

TL;DR: Fibroblast-derived induced pluripotent stem cells are used to generate retinal pigment epithelium (RPE) from an individual suffering from retinitis pigmentosa associated with biallelic variants in MERTK, representing a confirmation of the usefulness of iPSC derived disease specific models in investigating the pathogenesis and screening potential treatments for these rare blinding disorders.

TL;DR: It is shown that BEST1 is expressed more abundantly in peripheral RPE compared to central RPE and is also expressed in cells of the developing retina during human eye development, suggesting that higher levels of mislocalised BEST1 expression in the periphery could provide a mechanism that leads to the distinct clinical phenotype observed in ADVIRC patients.

TL;DR: The results show that the iPLR in mice develops unexpectedly late and are consistent with a role for rods and pigmentation in the development of this response in mice, which may have relevance to behavioral observations in mice and patients with retinitis pigmentosa.