title: Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies.
abstract: 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.
authors.affiliation: UCL Institute of Ophthalmology, 11-43 Bath Street, London, EC1V 9EL UK.
authors.forename: David A
authors.initials: DA
authors.lastname: Parfitt
authors.affiliation: UCL Institute of Ophthalmology, 11-43 Bath Street, London, EC1V 9EL UK.
authors.forename: Amelia
authors.initials: A
authors.lastname: Lane
authors.affiliation: UCL Institute of Ophthalmology, 11-43 Bath Street, London, EC1V 9EL UK.
authors.forename: Conor
authors.initials: C
authors.lastname: Ramsden
authors.affiliation: UCL Institute of Ophthalmology, 11-43 Bath Street, London, EC1V 9EL UK.
authors.forename: Katarina
authors.initials: K
authors.lastname: Jovanovic
authors.affiliation: UCL Institute of Ophthalmology, 11-43 Bath Street, London, EC1V 9EL UK.
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Coffey
authors.affiliation: UCL Institute of Ophthalmology, 11-43 Bath Street, London, EC1V 9EL UK.
authors.forename: Alison J
authors.initials: AJ
authors.lastname: Hardcastle
authors.affiliation: UCL Institute of Ophthalmology, 11-43 Bath Street, London, EC1V 9EL UK.
authors.forename: Michael E
authors.initials: ME
authors.lastname: Cheetham
mesh_terms: D000818:Animals; D002454:Cell Differentiation / Q000235:genetics; D002478:Cells, Cultured; D002923:Cilia / Q000378:metabolism / Q000473:pathology; D000072661:Ciliopathies / Q000235:genetics / Q000473:pathology* / Q000628:therapy*; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism; D009154:Mutation; D012160:Retina / Q000378:metabolism / Q000473:pathology*; D012162:Retinal Degeneration / Q000235:genetics / Q000473:pathology / Q000628:therapy
keywords: 3D organoids; CEP290; cilia; induced pluripotent stem cells; photoreceptors; retinal degeneration