Bharti K, Miller SS, Arnheiter H The new paradigm: retinal pigment epithelium cells generated from embryonic or induced pluripotent stem cells. Pigment Cell Melanoma Res. 2011 Feb;24(1):21-34. doi: 10.1111/j.1755-148X.2010.00772.x. Epub 2010 Oct 7.
Coppieters F, Lefever S, Leroy BP, De Baere E CEP290, a gene with many faces: mutation overview and presentation of CEP290base. Hum Mutat. 2010 Oct;31(10):1097-108. doi: 10.1002/humu.21337.
den Hollander AI, Roepman R, Koenekoop RK, Cremers FP Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res. 2008 Jul;27(4):391-419. doi: 10.1016/j.preteyeres.2008.05.003. Epub 2008 Jun 1.
Gonzalez F, Boue S, Izpisua Belmonte JC Methods for making induced pluripotent stem cells: reprogramming a la carte. Nat Rev Genet. 2011 Apr;12(4):231-42. doi: 10.1038/nrg2937. Epub 2011 Feb 22.
Hankowski KE, Hamazaki T, Umezawa A, Terada N Induced pluripotent stem cells as a next-generation biomedical interface. Lab Invest. 2011 Jul;91(7):972-7. doi: 10.1038/labinvest.2011.85. Epub 2011 May 9.
Hartzell HC, Qu Z, Yu K, Xiao Q, Chien LT Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies. Physiol Rev. 2008 Apr;88(2):639-72. doi: 10.1152/physrev.00022.2007.
la Cour M, Lin H, Kenyon E, Miller SS Lactate transport in freshly isolated human fetal retinal pigment epithelium. Invest Ophthalmol Vis Sci. 1994 Feb;35(2):434-42. Erratum In: Invest Ophthalmol Vis Sci 1995 Apr;36(5):757.
Quinn RH, Miller SS Ion transport mechanisms in native human retinal pigment epithelium. Invest Ophthalmol Vis Sci. 1992 Dec;33(13):3513-27.
Quinn RH, Quong JN, Miller SS Adrenergic receptor activated ion transport in human fetal retinal pigment epithelium. Invest Ophthalmol Vis Sci. 2001 Jan;42(1):255-64.
Stadtfeld M, Hochedlinger K Induced pluripotency: history, mechanisms, and applications. Genes Dev. 2010 Oct 15;24(20):2239-63. doi: 10.1101/gad.1963910.
Swaroop A, Chew EY, Rickman CB, Abecasis GR Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration. Annu Rev Genomics Hum Genet. 2009;10:19-43. doi: 10.1146/annurev.genom.9.081307.164350.
Voloboueva LA, Killilea DW, Atamna H, Ames BN N-tert-butyl hydroxylamine, a mitochondrial antioxidant, protects human retinal pigment epithelial cells from iron overload: relevance to macular degeneration. FASEB J. 2007 Dec;21(14):4077-86. doi: 10.1096/fj.07-8396com. Epub 2007 Jul 26.
Voloboueva LA, Liu J, Suh JH, Ames BN, Miller SS (R)-alpha-lipoic acid protects retinal pigment epithelial cells from oxidative damage. Invest Ophthalmol Vis Sci. 2005 Nov;46(11):4302-10. doi: 10.1167/iovs.04-1098.
Zarbin MA, Rosenfeld PJ Pathway-based therapies for age-related macular degeneration: an integrated survey of emerging treatment alternatives. Retina. 2010 Oct;30(9):1350-67. doi: 10.1097/IAE.0b013e3181f57e30.
Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Eye Diseases and From Somatic Cells of Matched Controls
Interventional studies are often prospective and are specifically tailored to evaluate direct impacts of treatment or preventive measures on disease.
Observational studies are often retrospective and are used to assess potential causation in exposure-outcome relationships and therefore influence preventive methods.
Expanded access is a means by which manufacturers make investigational new drugs available, under certain circumstances, to treat a patient(s) with a serious disease or condition who cannot participate in a controlled clinical trial.
Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.
Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.