Visionary genomics
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Guest Editorial Visionary genomics Over 10,000 scientists, clinicians, trainees and industry representatives gathered in Fort Lauderdale, Florida, USA, recently for the Annual Meeting of the Association for Research in Vision and Ophthalmology (ARVO). In recognition of the challenges that lie ahead for the vision sciences, the theme chosen for the 2011 meeting was ‘Visionary Genomics’. We have come a very long way since the days of John Dalton and his 1794 paper on the origins of colour blindness, a condition he shared with his brother.1 Investigators from the vision research community have worked out the major pathways of how visual information is received, processed and transmitted to the brain, and how specialised tissues such as the cornea and lens work together to focus light on the retina and filter out harmful ultraviolet light. Molecular pathways responsible for the expression and accumulation of crystallins, the specialised proteins that make up 35 per cent of the wet weight of the ocular lens, have been discovered and studied in great detail. Genes for virtually all components of the phototransduction cascade have been identified and studied to define a host of molecular defects associated with anomalous perception of the visual world. Now that we have a comprehensive understanding of the genes responsible for the organisation and functional integration of the visual system, it is reasonable to consider the challenges posed by major heritable vision diseases that either are not treatable or for which current therapies cannot meet the global burden of disease. We can ponder whether the emergence of next-generation genome technologies will lead us closer to discovering new therapeutic strategies and achieving
improved care of patients with vision disorders. Two major blinding conditions, age-related macular degeneration (AMD) and glaucoma, can serve as useful examples to highlight how far we have come, and how far we have yet to go, in our understanding of genetic influence on disease pathogenesis. AMD is the leading cause of blindness in people aged over 60 years in North America. Many commonalities have been associated with the complex manifestation of AMD, including accumulation of excess oxidised lipoproteins in the form of drusen; atrophy of the retinal pigment epithelium; formation of new blood vessels in the choroid; and environmental influences. While the use of antivascular epithelial growth factor (anti-VEGF) therapies (eg bevacizumab [Avastin; Roche] and ranibizumab [Lucentis; Navartis]) has helped to slow the rate of vision loss among patients with exudative AMD, we are still in the dark about mechanisms that lead to the onset and progression of retinal degeneration, and how we may intervene to delay or halt this insidious disease. Genome technology may help to focus the search for new therapeutic strategies against advanced AMD. Almost 30 years ago, Hyman and colleagues reported evidence for a genetic predisposition to AMD.2 More recently, several individual gene mutations have been identified
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