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Clin Exp Ophthalmol. 2014 Jan-Feb;42(1):78-83. doi: 10.1111/ceo.12150. Epub 2013 Jul 29.

Translating the ENCyclopedia Of DNA Elements Project findings to the clinic: ENCODE's implications for eye disease.

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Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, University of Melbourne, Melbourne, Australia; Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Australia.


Approximately 10 years after the Human Genome Project unravelled the sequence of our DNA, the ENCyclopedia Of DNA Elements (ENCODE) Project sought to interpret it. Data from the recently completed project have shed new light on the proportion of biologically active human DNA, assigning a biochemical role to much of the sequence previously considered to be 'junk'. Many of these newly catalogued functional elements represent epigenetic mechanisms involved in regulation of gene expression. Analogous to an Ishihara plate, a gene-coding region of DNA (target dots) only comes into context when the non-coding DNA (surrounding dots) is appreciated. In this review we provide an overview of the ENCODE project, discussing the significance of these data for ophthalmic research and eye disease. The novel insights afforded by the ENCODE project will in time allow for the development of new therapeutic strategies in the management of common blinding disorders.


epigenetic; glaucoma; macular degeneration; methylation; myopia

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