Concise Review: Patient‐Specific Stem Cells to Interrogate Inherited Eye Disease. (18th December 2015)

• Record Type: Journal Article
• Authors: Giacalone, Joseph C.; Wiley, Luke A.; Burnight, Erin R.; Songstad, Allison E.; Mullins, Robert F.; Stone, Edwin M.; Tucker, Budd A.
• Is Part Of: Stem cells translational medicine. Volume 5:Number 2(2016)
• Page Start: 132
• Page End: 140
• Publication Date: 2015-12-18
• Subjects: Induced pluripotent stem cells -- Eye diseases -- Hereditary -- Retinal degeneration/genetics -- Humans -- Eye/pathology; Stem cells -- Periodicals; Regenerative medicine -- Periodicals; Periodicals; 616.0277405
• DOI: 10.5966/sctm.2015-0206
• Languages: English
• ISSNs: 2157-6564

Abstract

Abstract : Heritable diseases of the retina 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. How induced pluripotent stem cell 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 is discussed. 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.