title: BEST1: the Best Target for Gene and Cell Therapies.
abstract: A retinal pigmented epithelial (RPE) disorder, bestrophinopathy has recently been proven to be amenable to gene and cell-based therapies in preclinical models. RPE disorders and allied retinal degenerations exhibit significant genetic heterogeneity, and diverse mutations can result in similar disease phenotypes. Several RPE disorders have recently become targets for gene therapies in humans. The year 2011 brought a new advance in cell-based therapies, with the Food and Drug Administration approving clinical trials using embryonic stem cells for an RPE disorder known as age-related macular degeneration. Recent studies on induced pluripotent stem (iPS)-RPE generation indicate strong potential for developing patient-specific disease models in vitro, which could eventually enable personalized treatment. This mini-review will briefly highlight the suitability of the retina for gene and cell therapies, the pathophysiology of bestrophinopathy, and the research and treatment opportunities afforded by stem cell and genetic therapies.
authors.affiliation: Department of Biochemistry and Molecular Biophysics, Columbia University, New York, New York, USA.
authors.forename: Tingting
authors.initials: T
authors.lastname: Yang
authors.affiliation: Barbara & Donald Jonas Stem Cell & Regenerative Medicine Laboratory, and Bernard & Shirlee Brown Glaucoma Laboratory, Department of Pathology & Cell Biology, Institute of Human Nutrition, College of Physicians and Surgeons, Columbia University, New York, New York, USA.
authors.forename: Sally
authors.initials: S
authors.lastname: Justus
authors.affiliation: Barbara & Donald Jonas Stem Cell & Regenerative Medicine Laboratory, and Bernard & Shirlee Brown Glaucoma Laboratory, Department of Pathology & Cell Biology, Institute of Human Nutrition, College of Physicians and Surgeons, Columbia University, New York, New York, USA.|Irving Institute for Clinical and Translational Research, Columbia University Medical Center, New York, New York, USA.
authors.forename: Yao
authors.initials: Y
authors.lastname: Li
authors.affiliation: Barbara & Donald Jonas Stem Cell & Regenerative Medicine Laboratory, and Bernard & Shirlee Brown Glaucoma Laboratory, Department of Pathology & Cell Biology, Institute of Human Nutrition, College of Physicians and Surgeons, Columbia University, New York, New York, USA.|Irving Institute for Clinical and Translational Research, Columbia University Medical Center, New York, New York, USA.
authors.forename: Stephen H
authors.initials: SH
authors.lastname: Tsang
mesh_terms: D000818:Animals; D000075002:Bestrophins; D064987:Cell- and Tissue-Based Therapy / Q000379:methods*; D018118:Chloride Channels / Q000235:genetics* / Q000378:metabolism; D004195:Disease Models, Animal; D023381:Endpoint Determination; D015785:Eye Diseases, Hereditary / Q000235:genetics* / Q000473:pathology / Q000628:therapy*; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism; D015316:Genetic Therapy / Q000379:methods*; D006801:Humans; D057026:Induced Pluripotent Stem Cells; D008268:Macular Degeneration / Q000235:genetics / Q000473:pathology / Q000628:therapy; D012162:Retinal Degeneration / Q000235:genetics / Q000473:pathology / Q000628:therapy; D012164:Retinal Diseases / Q000235:genetics* / Q000473:pathology / Q000628:therapy*; D055213:Retinal Pigment Epithelium / Q000473:pathology
chemical_list: C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins