title: Concise Review: Patient-Specific Stem Cells to Interrogate Inherited Eye Disease.
abstract: Whether we are driving to work or spending time with loved ones, we depend on our sense of vision to interact with the world around us. Therefore, it is understandable why blindness for many is feared above death itself. Heritable diseases of the retina, such as glaucoma, age-related macular degeneration, and retinitis pigmentosa, are major causes of blindness worldwide. The recent success of gene augmentation trials for the treatment of RPE65-associated Leber congenital amaurosis has underscored the need for model systems that accurately recapitulate disease. With the advent of patient-specific induced pluripotent stem cells (iPSCs), researchers are now able to obtain disease-specific cell types that would otherwise be unavailable for molecular analysis. In the present review, we discuss how the iPSC technology is being used to confirm the pathogenesis of novel genetic variants, interrogate the pathophysiology of disease, and accelerate the development of patient-centered treatments. Significance: Stem cell technology has created the opportunity to advance treatments for multiple forms of blindness. Researchers are now able to use a person's cells to generate tissues found in the eye. This technology can be used to elucidate the genetic causes of disease and develop treatment strategies. In the present review, how stem cell technology is being used to interrogate the pathophysiology of eye disease and accelerate the development of patient-centered treatments is discussed.
authors.affiliation: Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
authors.forename: Joseph C
authors.initials: JC
authors.lastname: Giacalone
authors.affiliation: Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
authors.forename: Luke A
authors.initials: LA
authors.lastname: Wiley
authors.affiliation: Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
authors.forename: Erin R
authors.initials: ER
authors.lastname: Burnight
authors.affiliation: Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
authors.forename: Allison E
authors.initials: AE
authors.lastname: Songstad
authors.affiliation: Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
authors.forename: Robert F
authors.initials: RF
authors.lastname: Mullins
authors.affiliation: Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa, USA.
authors.forename: Edwin M
authors.initials: EM
authors.lastname: Stone
authors.affiliation: Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA budd-tucker@uiowa.edu.
authors.forename: Budd A
authors.initials: BA
authors.lastname: Tucker
mesh_terms: D000818:Animals; D001766:Blindness / Q000378:metabolism / Q000473:pathology / Q000517:prevention & control*; D002454:Cell Differentiation; D004195:Disease Models, Animal; D005901:Glaucoma / Q000378:metabolism / Q000473:pathology / Q000628:therapy*; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology / Q000502:physiology / Q000637:transplantation*; D057130:Leber Congenital Amaurosis / Q000378:metabolism / Q000473:pathology / Q000628:therapy*; D008268:Macular Degeneration / Q000378:metabolism / Q000473:pathology / Q000628:therapy*; D057285:Precision Medicine; D012160:Retina / Q000378:metabolism / Q000473:pathology; D012174:Retinitis Pigmentosa / Q000378:metabolism / Q000473:pathology / Q000628:therapy*; D033581:Stem Cell Transplantation; D014182:Transplantation, Autologous
keywords: Eye diseases; Eye/pathology; Hereditary; Humans; Induced pluripotent stem cells; Retinal degeneration/genetics