Patient-derived induced pluripotent stem cells for modelling genetic retinal dystrophies.

TitlePatient-derived induced pluripotent stem cells for modelling genetic retinal dystrophies.
Publication TypeJournal Article
Year of Publication2018
AuthorsFoltz LP, Clegg DO
JournalProgress in Retinal and Eye Research
Date Published2018 Sep 11

The human retina is a highly complex tissue that makes up an integral part of our central nervous system. It is astonishing that our retina works seamlessly to provide one of our most critical senses, and it is equally devastating when a disease destroys a portion of the retina and robs people of their vision. After decades of research, scientists are beginning to understand retinal cells in a way that can benefit the millions of individuals suffering from inherited blindness. This understanding has come about in part with the ability to culture human embryonic stem cells and the innovation of induced pluripotent stem cells, which can be cultured from patients and used to model their disease. In this review, we highlight the successes of specific disease modelling studies and resulting molecular discoveries. The greatest strides in cellular modelling have come from mutations in genes with established and well-understood cellular functions in the context of the retina. We believe that the future of cellular modelling depends on emphasising reproducible production of retinal cell types, demonstrating functional rescue using site-specific programmable nucleases, and shifting towards unbiased screening using next generation sequencing.

Alternate JournalProg Retin Eye Res
PubMed ID30217765