The photoreceptor cells in the retina have a highly specialised sensory cilium, the outer segment (OS), which is important for detecting light. Mutations in cilia-related genes often result in retinal degeneration. The ability to reprogramme human cells into induced pluripotent stem cells and then differentiate them into a wide range of different cell types has revolutionised our ability to study human disease. To date, however, the challenge of producing fully differentiated photoreceptors in vitro has limited the application of this technology in studying retinal degeneration. In this review, we will discuss recent advances in stem cell technology and photoreceptor differentiation. In particular, the development of photoreceptors with rudimentary OS that can be used to understand disease mechanisms and as an important model to test potential new therapies for inherited retinal ciliopathies.
Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies
David A. Parfitt, Amelia Lane, Conor Ramsden, Katarina Jovanovic, Peter J. Coffey, Alison J. Hardcastle, Michael E. Cheetham; Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies. Biochem Soc Trans 15 October 2016; 44 (5): 1245–1251. doi: https://doi.org/10.1042/BST20160156
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