Retina

The NEI supports a broad range of basic and clinical research to:

• Coordinate shared bioinformatics approaches and resources to generate, analyze and annotate phenotypic and genetic data, including improved predictions of potential pathogenicity of identified sequence variants
• Explore the role of non-Mendelian genetics, including epigenetic modifications, microRNA gene regulation, mitochondrial genetics and genetic modifier effects during development, normal aging and retinal degenerative diseases
• Identify and better understand various treatment approaches, including prostheses, gene, drug, and molecular-based therapeutics for the treatment of retinal diseases
• Study the disease pathogenesis and genetic factors that underlie structure, function, and the biology of retinal diseases
• Elucidate the molecular mechanisms that lead to photoreceptor degeneration, including signal transduction pathways, defects in protein folding, ciliogenesis, functional compartmentalization, or trafficking, and translate these molecular footholds into therapies for Mendelian and complex diseases
• Understand and model the structure, function and circuitry of retinal neurons in order to interpret tests of retinal function such as the electroretinogram and various psychophysical paradigms that are used to detect retinal diseases, monitor the progression of disease, and assess treatments
• Study the development of the retina in order to understand what factors, signals, and cell types are necessary for a properly connected and functional retina
• Understand the role of immune responses (including the complement system) in retinal degenerative diseases, and determine how the immune system influences survival or death of retinal neurons
• Translate high-resolution retinal imaging technologies, like adaptive optics, into cost-effective and easy-to-use platforms for routine clinical use
• Advance regenerative medicine and cell replacement therapy by studying key developmental regulators and pathways and explore how to direct stem cells (ES cells or iPS cells) or progenitors down specific cell lineages for targeted cell replacement therapy for all retinal cell types, including RPE
• Translate progress in research into best clinical practices to reduce preventable blindness or reduce the functional consequences of visual impairment