Challenges and Opportunities for Modeling Monogenic and Complex Disorders of the Human Retina Via Induced Pluripotent Stem Cell Technology

Overview

Journal Med Genet

Publisher De Gruyter

Specialties Genetics
Medical Ethics

Date 2024 Jun 5

PMID 38835692

Authors

Karolina Plossl

Andrea Milenkovic

Bernhard H F Weber

Affiliations

Soon will be listed here.

Abstract

The human retina is a highly structured and complex neurosensory tissue central to perceiving and processing visual signals. In a healthy individual, the close interplay between the neuronal retina, the adjacent retinal pigment epithelium and the underlying blood supply, the choriocapillaris, is critical for maintaining eyesight over a lifetime. An impairment of this delicate and metabolically highly active system, caused by genetic alteration, environmental impact or both, results in a multitude of pathological phenotypes of the retina. Understanding and treating these disease processes are motivated by a marked medical need in young as well as in older patients. While naturally occurring or gene-manipulated animal models have been used successfully in ophthalmological research for many years, recent advances in induced pluripotent stem cell technology have opened up new avenues to generate patient-derived retinal model systems. Here, we explore to what extent these cellular models can be useful to mirror human pathologies ultimately allowing to analyze disease mechanisms and testing treatment options in the cell type of interest on an individual patient-specific genetic background.

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