Sinha, D., B. Steyer, P. Shahi, R. Valiauga, K. Edwards, C. Bacig, B. Pattnaik, K. Saha, and D. Gamm. Gene Therapies Differentially Rescue Disease Phenotype in Patient-Specific HiPSC-RPE Models of Best Disease. Investigative Ophthalmology & Visual Science, 2019, p. Epub Full Text.
Abstract
Purpose
Best disease (BD) is a common inherited macular dystrophy in which affected individuals gradually lose their central vision. Mutations in BESTROPHIN1 (BEST1) gene are known to be the underlying cause of BD, where the majority of missense mutations have a dominant inheritance pattern. Protein encoded by BEST1 has been postulated to form a homo-pentameric calcium activated chloride channel (CaCC) in the retinal pigment epithelium (RPE) within the retina. Currently, there is no treatment available for BD patients. Our objective was to test if gene therapy approaches (either gene augmentation or gene editing) could be used to treat BD.