Journal article
Drusen in patient-derived hiPSC-RPE models of macular dystrophies
CA Galloway, S Dalvi, SSC Hung, LA MacDonald, LR Latchney, RCB Wong, RH Guymer, DA Mackey, DS Williams, MM Chung, DM Gamm, A Pébay, AW Hewitt, R Singh
Proceedings of the National Academy of Sciences of the United States of America | NATL ACAD SCIENCES | Published : 2017
Abstract
Age-related macular degeneration (AMD) and related macular dystrophies (MDs) are a major cause of vision loss. However, the mechanisms underlying their progression remain ill-defined. This is partly due to the lack of disease models recapitulating the human pathology. Furthermore, in vivo studies have yielded limited understanding of the role of specific cell types in the eye vs. systemic influences (e.g., serum) on the disease pathology. Here, we use human induced pluripotent stem cell-retinal pigment epithelium (hiPSC-RPE) derived from patients with three dominant MDs, Sorsby’s fundus dystrophy (SFD), Doyne honeycomb retinal dystrophy/malattia Leventinese (DHRD), and autosomal dominant rad..
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Grants
Awarded by National Institutes of Health
Funding Acknowledgements
We thank Dr. Helena Hai Liang [Centre for Eye Research Australia (CERA)] for fibroblast culturing; Dr. Robert Buttery, Melinda Cain (CERA), and Lisa S. Kearns (CERA) for assistance with clinical phenotyping; Stacey Jackson (CERA) for help with CRISPR screening; Stefanie Volland (University of California, Los Angeles) for her assistance and advice with electron microscopy; Gavin Jenkins (University of Rochester) for helping with qPCR analyses; and Dr. Bela-Anand Apte (Cleveland Clinic) for help with writing and editing the manuscript. This work was supported by funding from BrightFocus Foundation (R.S.), David Bryant Trust (R.S.), Foundation Fighting Blindness (R.S.), Knights Templar Eye Foundation (R.S.), Research to Prevent Blindness (R.S. and Department of Ophthalmology, University of Rochester), Retina Research Foundation (R.S.), University of Rochester University Research Award (R.S.), Retina Research Foundation E.A. Humble Directorship of the McPherson Eye Research Institute (D.M.G.), Sandra Lemke Trout Chair in Eye Research (D.M.G.), NIH Grant EY013048 (to D.S.W.), an Australian Research Council Future Fellowship FT140100047 (to A.P.), National Health and Medical Research Council (NHMRC) Project Grant 1059369 (to R.H.G. and A.P.), NHMRC Practitioner Fellowship 1103329 (to A.W.H.), NHMRC Elizabeth Blackburn Fellowship 1103013 (to R.H.G.), the Ophthalmic Research Institute of Australia (A.P. and A.W.H.), Retina Australia (S.S.H., A.P., and A.W.H.), and Clinical and Translational Science Institute Grant UL1TR000042 (University of Rochester).