"Disease in a dish" modeling of retinal diseases

Abstract

Retinal degenerations, such as age-related macular degeneration and retinitis pigmentosa, are the leading cause of blindness in the developed world. Currently, treatments for these conditions are limited. Recently, considerable attention has been given to the possibility of using patient-specific induced pluripotent stem cells (iPSCs) to generate and replace retinal cells that are lost as a result of disease or injury. iPSCs reprogrammed from adult somatic cells offer the possibility of generating patient-specific cell lines in vitro, with applications in modeling of retinal disease, gene therapy of iPSC-derived retinal pigmented epithelium (RPE) cells, and retinal transplantation. This "disease in a dish" modeling has led to many avenues of opportunity in the search for treatment of retinal disease, including testing for efficacy of gene or drug-based therapies, elucidating previously unknown mechanisms and pathways of disease, and using iPSCs as a source of autologous cells for cell replacement therapy.