BEST1: the Best Target for Gene and Cell Therapies

Mol Ther. 2015 Dec;23(12):1805-9. doi: 10.1038/mt.2015.177. Epub 2015 Sep 21.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Bestrophins
  • Cell- and Tissue-Based Therapy / methods*
  • Chloride Channels / genetics*
  • Chloride Channels / metabolism
  • Disease Models, Animal
  • Endpoint Determination
  • Eye Diseases, Hereditary / genetics*
  • Eye Diseases, Hereditary / pathology
  • Eye Diseases, Hereditary / therapy*
  • Eye Proteins / genetics*
  • Eye Proteins / metabolism
  • Genetic Therapy / methods*
  • Humans
  • Induced Pluripotent Stem Cells
  • Macular Degeneration / genetics
  • Macular Degeneration / pathology
  • Macular Degeneration / therapy
  • Retinal Degeneration / genetics
  • Retinal Degeneration / pathology
  • Retinal Degeneration / therapy
  • Retinal Diseases / genetics*
  • Retinal Diseases / pathology
  • Retinal Diseases / therapy*
  • Retinal Pigment Epithelium / pathology


  • BEST1 protein, human
  • Bestrophins
  • Chloride Channels
  • Eye Proteins

Supplementary concepts

  • Bestrophinopathy