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Simple and complex retinal dystrophies are associated with profoundly different disease networks

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dc.contributor.author Kiel, Christina
dc.contributor.author Lastrucci, Claire
dc.contributor.author Luthert, Philip J.
dc.contributor.author Serrano Pubull, Luis, 1982-
dc.date.accessioned 2018-07-23T07:58:35Z
dc.date.available 2018-07-23T07:58:35Z
dc.date.issued 2017
dc.identifier.citation Kiel C, Lastrucci C, Luthert PJ, Serrano L. Simple and complex retinal dystrophies are associated with profoundly different disease networks. Sci Rep. 2017 Jan 31;7:41835. DOI: 10.1038/srep41835
dc.identifier.issn 2045-2322
dc.identifier.uri http://hdl.handle.net/10230/35224
dc.description.abstract Retinopathies are a group of monogenetic or complex retinal diseases associated with high unmet medical need. Monogenic disorders are caused by rare genetic variation and usually arise early in life. Other diseases, such as age-related macular degeneration (AMD), develop late in life and are considered to be of complex origin as they develop from a combination of genetic, ageing, environmental and lifestyle risk factors. Here, we contrast the underlying disease networks and pathological mechanisms of monogenic as opposed to complex retinopathies, using AMD as an example of the latter. We show that, surprisingly, genes associated with the different forms of retinopathies in general do not overlap despite their overlapping retinal phenotypes. Further, AMD risk genes participate in multiple networks with interaction partners that link to different ubiquitous pathways affecting general tissue integrity and homeostasis. Thus AMD most likely represents an endophenotype with differing underlying pathogenesis in different subjects. Localising these pathomechanisms and processes within and across different retinal anatomical compartments provides a novel representation of AMD that may be extended to complex disease in general. This approach may generate improved treatment options that target multiple processes with the aim of restoring tissue homeostasis and maintaining vision.
dc.description.sponsorship This project has received funding from the European Union's Horizon 2020 research and innovation programme under grant agreement No. 634479 (EYE-RISK). This work was supported by the Spanish Ministerio de Economía y Competitividad, Plan Nacional BIO2012-39754 and the European Fund for Regional Development. We acknowledge the support of the Spanish Ministry of Economy and Competitiveness, 'Centro de Excelencia Severo Ochoa 2013-2017′. We acknowledge the support of the CERCA Programme/Generalitat de Catalunya.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Nature Publishing Group
dc.relation.ispartof Scientific Reports. 2017 Jan 31;7:41835
dc.rights © The Author(s) 2017. This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
dc.rights.uri http://creativecommons.org/licenses/by/4.0/
dc.title Simple and complex retinal dystrophies are associated with profoundly different disease networks
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1038/srep41835
dc.subject.keyword Retinal diseases
dc.subject.keyword Dystrophy
dc.subject.keyword Macular degeneration
dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/634479
dc.relation.projectID info:eu-repo/grantAgreement/ES/3PN/BIO2012-39754
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion


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