{"id":57275,"date":"2023-03-09T20:16:39","date_gmt":"2023-03-09T19:16:39","guid":{"rendered":"https:\/\/www.embl.org\/news\/?p=57275"},"modified":"2023-03-09T20:16:46","modified_gmt":"2023-03-09T19:16:46","slug":"large-scale-study-enables-new-insights-into-rare-eye-disorders","status":"publish","type":"post","link":"https:\/\/www.embl.org\/news\/science\/large-scale-study-enables-new-insights-into-rare-eye-disorders\/","title":{"rendered":"Large-scale study enables new insights into rare eye disorders"},"content":{"rendered":"\n<p>Researchers have analysed image and genomic data from the <a href=\"https:\/\/www.ukbiobank.ac.uk\/\">UK Biobank<\/a> to find insights into rare diseases of the human eye. These include retinal dystrophies \u2013 a group of inherited disorders affecting the retina \u2013 which are also the leading cause of blindness certification in working-age adults.<\/p>\n\n\n\n<p>The retina is found at the back of the eye. It\u2019s a layered tissue that receives light and converts it into a signal that can be interpreted by the brain. Each retinal layer comprises different cell types that play a unique role in this light conversion process.<\/p>\n\n\n\n<p>For this study <a href=\"https:\/\/journals.plos.org\/plosgenetics\/article?id=10.1371\/journal.pgen.1010587\">published in the journal <em>PLOS Genetics<\/em><\/a>, the researchers focused on photoreceptor cells (PRCs), which are light-detecting cells found in the retina. These cells can be non-invasively imaged using optical coherence tomography (OCT), a service now commonly offered in many opticians. Using OCT image data and genomic data stored in the UK Biobank, researchers were able to generate the largest genome-wide association study of PRCs.&nbsp;&nbsp;<\/p>\n\n\n\n<article class=\"vf-card vf-card--brand vf-card--bordered vf-u-margin__bottom--800\" default>\n  <div class=\"vf-card__content | vf-stack vf-stack--400\">\n      <h3 class=\"vf-card__heading\">\n      Detecting photoreceptor cells (PRCs) using optical coherence tomography (OCT)    <\/h3>\n                <p class=\"vf-card__text\"><!-- wp:paragraph -->\r\n\r\nOptical coherence tomography is used in the clinic to generate images of the retina.\u00a0 It produces an image comparable to an ultrasound scan that can be used to identify the different layers of the retina. The photoreceptor cells are found towards the back of the eye within the retina, comprising three different layers: the outer nuclear layer (ONL), the inner segment (IS) and the outer segment (OS). Changes in the morphology and thickness of these layers are associated with disorders of the retina known collectively as retinal dystrophies.\r\n\r\n<!-- \/wp:paragraph --> <!-- wp:image -->\r\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh6.googleusercontent.com\/wjpXOcNB1o54GrH3hesHr5I2CtoYANT4kAZ4rk9Vb-j6BrWttoNKjAsOragI44q2bcaF1uPwpI_OJAAmXeb1yDFTfaCmEhEBLGI5qWrG1FkbH0Bx4ar3PNBIif6EPXEqh3wNtN2QGD64\" alt=\"\" \/><\/figure>\r\n<!-- \/wp:image --><\/p>\n      <\/div>\n<\/article>\n\n\n\n\n<h2 class=\"wp-block-heading\"><strong>Rare retinal dystrophies&nbsp;<\/strong><\/h2>\n\n\n\n<p>Rare diseases of the retina are frequently caused by inherited mutations in genes expressed by PRCs. These mutations cause the retina to function incorrectly, resulting in sight impairment or even blindness. Although these individual diseases are rare, together they are the leading cause of blindness in working-age adults.&nbsp;<\/p>\n\n\n\n<p>\u201cWe had access to coupled images and genotype data at a scale that had not been seen in a study of this kind,\u201d said <a href=\"https:\/\/www.cpr.ku.dk\/staff\/brunak-group\/?pure=en\/persons\/741645\">Hannah Currant,<\/a> former PhD student at EMBL\u2019s European Bioinformatics Institute (EMBL-EBI) and <a href=\"https:\/\/www.cpr.ku.dk\/staff\/brunak-group\/?pure=en\/persons\/741645\">Postdoctoral Fellow at the Novo Nordisk Foundation Center for Protein Research (CPR) University of Copenhagen<\/a>. \u201cAccess to this enormous amount of data was critical to the study and enabled us to identify genetic links to rare retinal dystrophies. This work has identified new avenues for research and generated new questions about rare retinal dystrophies.\u201d<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>Linking genotype and phenotype&nbsp;&nbsp;<\/strong><\/h2>\n\n\n\n<p>OCT produces high-resolution images that can be used to identify the different layers and structures within the retina. These images are commonly used in the clinic to aid the diagnosis of eye disorders. For this study, the researchers used OCT images and the corresponding genomic and medical information of over 30,000 participants stored in the UK Biobank.&nbsp;<\/p>\n\n\n\n<p>\u201cThe UK Biobank is a rich, invaluable resource that has enormous potential to enable genomic medicine,\u201d said <a href=\"https:\/\/www.ebi.ac.uk\/people\/person\/ewan-birney\/\">Ewan Birney, Deputy Director General of the European Molecular Biology Laboratory (EMBL)<\/a>. \u201cThere is so much potential just waiting to be released from the data stored there, which lets us both understand human biology and how and when it goes wrong in disease.\u201d&nbsp;&nbsp;<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>Driving genomic medicine&nbsp;<\/strong><\/h2>\n\n\n\n<p>The researchers conducted genome-wide association studies (GWAS) on the UK Biobank data to look for genetic variations linked to differences in the thickness of the PRC layers. This led them to identify genomic variations associated with the thickness of one or more of the PRC layers, including those with prior associations with known eye diseases. The newly identified genomic associations are stored and can be openly accessed through the <a href=\"https:\/\/www.ebi.ac.uk\/gwas\/\">GWAS Catalog<\/a>.&nbsp;<\/p>\n\n\n\n<p>Some of these genetic variants were known to be linked to eye diseases, but surprisingly, a number of relatively common genetic variants were near genes known to cause rare genetic eye diseases when disrupted. In one case, the researchers were able to explore how combinations of common variants near genes known to be involved in rare eye diseases change the structure of the retina. This gives more confidence when looking into specific rare disease collections to see how these specific common variants might impact disease.<\/p>\n\n\n\n<p>\u201cSystematic bioinformatic analysis of large-scale participant data cohorts is driving the future of genomic medicine,\u201d said <a href=\"https:\/\/www.ucl.ac.uk\/ioo\/people\/dr-omar-mahroo\">Omar Mahroo, Professor of Retinal Neuroscience at University College London and Consultant Ophthalmologist at Moorfields Eye Hospital<\/a>. \u201cHaving access to these data and being able to make these connections between disease phenotypes and genetic variation will open many new opportunities for modern disease diagnosis and therapeutics.\u201d&nbsp;<\/p>\n\n\n\n<p>Developing a molecular understanding of how the human ecosystem \u2013 the social, physical and biological factors we are exposed to throughout our lives \u2013 interacts with our genetic makeup to influence our health is a priority for EMBL. <a href=\"http:\/\/www.embl.org\/about\/programme\/research-plans\/human-ecosystems\/\">Find out more about how researchers across EMBL will leverage the unprecedented depth and breadth of emerging human cohort data<\/a> to aid our understanding of human diseases.&nbsp;<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>Funding<\/strong><\/h3>\n\n\n\n<p>OAM receives funding for this work from the Wellcome Trust.<\/p>\n\n\n\n<p>HC Novo Nordisk Foundation Center for Protein Research was supported financially by the Novo Nordisk Foundation grant agreement NNF14CC0001.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>EMBL-EBI researchers use UK Biobank data to uncover new information about rare diseases of the eye.<\/p>\n","protected":false},"author":77,"featured_media":57277,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[11060,2],"tags":[28,36,927,42,5778,1748,5686],"embl_taxonomy":[2906,18907],"class_list":["post-57275","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-research-highlights","category-science","tag-bioinformatics","tag-embl-ebi","tag-eye","tag-genomics","tag-human-ecosystems","tag-press-release","tag-rare-disease","embl_taxonomy-embl-ebi","embl_taxonomy-ewan-birney"],"acf":{"featured":true,"show_featured_image":false,"field_target_display":"both","field_article_language":{"value":"english","label":"English"},"article_intro":"<p>EMBL-EBI researchers use UK Biobank data to uncover new information about rare diseases of the eye<\/p>\n","related_links":[{"link_description":"Human ecosystems at EMBL ","link_url":"https:\/\/www.embl.org\/about\/programme\/research-plans\/human-ecosystems\/"},{"link_description":"UK Biobank ","link_url":"https:\/\/www.ukbiobank.ac.uk\/"}],"source_article":[{"publication_title":"Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation","publication_link":{"title":"","url":"https:\/\/journals.plos.org\/plosgenetics\/article?id=10.1371\/journal.pgen.1010587","target":""},"publication_authors":"Currant, H., et al ","publication_source":"PLOS Genetics","publication_date":"9 March 2023","publication_doi":"10.1371\/journal.pgen.1010587"}],"in_this_article":false,"press_contact":"EMBL-EBI Generic","article_translations":false,"languages":""},"embl_taxonomy_terms":[{"uuid":"a:3:{i:0;s:36:\"b14d3f13-5670-44fb-8970-e54dfd9c921a\";i:1;s:36:\"89e00fee-87f4-482e-a801-4c3548bb6a58\";i:2;s:36:\"a99d1a7c-ca83-4c00-ab61-d082d3e41ce3\";}","parents":[],"name":["EMBL-EBI"],"slug":"embl-ebi","description":"Where &gt; All EMBL sites &gt; EMBL-EBI"},{"uuid":"a:2:{i:0;s:36:\"4428d1fd-441a-4d6d-a1c5-5dcf5665f213\";i:1;s:36:\"8ea61d5f-8e18-4875-b043-3ace7c26c561\";}","parents":[],"name":["Ewan Birney"],"slug":"ewan-birney","description":"Who &gt; Ewan Birney"}],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.2 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Large-scale study enables new insights into rare eye disorders | EMBL<\/title>\n<meta name=\"description\" content=\"EMBL-EBI researchers use UK Biobank data to uncover new information about rare diseases of the eye.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.embl.org\/news\/science\/large-scale-study-enables-new-insights-into-rare-eye-disorders\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Large-scale study enables new insights into rare eye disorders | EMBL\" \/>\n<meta property=\"og:description\" content=\"EMBL-EBI researchers use UK Biobank data to uncover new information about rare diseases of the eye.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.embl.org\/news\/science\/large-scale-study-enables-new-insights-into-rare-eye-disorders\/\" \/>\n<meta property=\"og:site_name\" content=\"EMBL\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/embl.org\/\" \/>\n<meta property=\"article:published_time\" content=\"2023-03-09T19:16:39+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2023-03-09T19:16:46+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/www.embl.org\/news\/wp-content\/uploads\/2023\/03\/2023-BIRNEY-Rare-eye-diseases-1000x600-1.png\" \/>\n\t<meta property=\"og:image:width\" content=\"1000\" \/>\n\t<meta property=\"og:image:height\" content=\"600\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"author\" content=\"Vicky Hatch\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@embl\" \/>\n<meta name=\"twitter:site\" content=\"@embl\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"Vicky Hatch\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"4 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"NewsArticle\",\"@id\":\"https:\/\/www.embl.org\/news\/science\/large-scale-study-enables-new-insights-into-rare-eye-disorders\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.embl.org\/news\/science\/large-scale-study-enables-new-insights-into-rare-eye-disorders\/\"},\"author\":{\"name\":\"Vicky Hatch\",\"@id\":\"https:\/\/www.embl.org\/news\/#\/schema\/person\/d8477ba2d7a6164b141a3872a25ee982\"},\"headline\":\"Large-scale study enables new insights into rare eye disorders\",\"datePublished\":\"2023-03-09T19:16:39+00:00\",\"dateModified\":\"2023-03-09T19:16:46+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/www.embl.org\/news\/science\/large-scale-study-enables-new-insights-into-rare-eye-disorders\/\"},\"wordCount\":886,\"publisher\":{\"@id\":\"https:\/\/www.embl.org\/news\/#organization\"},\"image\":{\"@id\":\"https:\/\/www.embl.org\/news\/science\/large-scale-study-enables-new-insights-into-rare-eye-disorders\/#primaryimage\"},\"thumbnailUrl\":\"https:\/\/www.embl.org\/news\/wp-content\/uploads\/2023\/03\/2023-BIRNEY-Rare-eye-diseases-1000x600-1.png\",\"keywords\":[\"bioinformatics\",\"embl-ebi\",\"eye\",\"genomics\",\"human ecosystems\",\"press release\",\"rare disease\"],\"articleSection\":[\"Research highlights\",\"Science\"],\"inLanguage\":\"en-US\"},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/www.embl.org\/news\/science\/large-scale-study-enables-new-insights-into-rare-eye-disorders\/\",\"url\":\"https:\/\/www.embl.org\/news\/science\/large-scale-study-enables-new-insights-into-rare-eye-disorders\/\",\"name\":\"Large-scale study enables new insights into rare eye disorders | EMBL\",\"isPartOf\":{\"@id\":\"https:\/\/www.embl.org\/news\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\/\/www.embl.org\/news\/science\/large-scale-study-enables-new-insights-into-rare-eye-disorders\/#primaryimage\"},\"image\":{\"@id\":\"https:\/\/www.embl.org\/news\/science\/large-scale-study-enables-new-insights-into-rare-eye-disorders\/#primaryimage\"},\"thumbnailUrl\":\"https:\/\/www.embl.org\/news\/wp-content\/uploads\/2023\/03\/2023-BIRNEY-Rare-eye-diseases-1000x600-1.png\",\"datePublished\":\"2023-03-09T19:16:39+00:00\",\"dateModified\":\"2023-03-09T19:16:46+00:00\",\"description\":\"EMBL-EBI researchers use UK Biobank data to uncover new information about rare diseases of the eye.\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\/\/www.embl.org\/news\/science\/large-scale-study-enables-new-insights-into-rare-eye-disorders\/\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\/\/www.embl.org\/news\/science\/large-scale-study-enables-new-insights-into-rare-eye-disorders\/#primaryimage\",\"url\":\"https:\/\/www.embl.org\/news\/wp-content\/uploads\/2023\/03\/2023-BIRNEY-Rare-eye-diseases-1000x600-1.png\",\"contentUrl\":\"https:\/\/www.embl.org\/news\/wp-content\/uploads\/2023\/03\/2023-BIRNEY-Rare-eye-diseases-1000x600-1.png\",\"width\":1000,\"height\":600,\"caption\":\"UK Biobank data enables new insights into rare eye disorders. Credit: Karen Arnott\/EMBL-EBI\"},{\"@type\":\"WebSite\",\"@id\":\"https:\/\/www.embl.org\/news\/#website\",\"url\":\"https:\/\/www.embl.org\/news\/\",\"name\":\"European Molecular Biology Laboratory News\",\"description\":\"News from the European Molecular Biology Laboratory\",\"publisher\":{\"@id\":\"https:\/\/www.embl.org\/news\/#organization\"},\"alternateName\":\"EMBL News\",\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\/\/www.embl.org\/news\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Organization\",\"@id\":\"https:\/\/www.embl.org\/news\/#organization\",\"name\":\"European Molecular Biology Laboratory\",\"alternateName\":\"EMBL\",\"url\":\"https:\/\/www.embl.org\/news\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\/\/www.embl.org\/news\/#\/schema\/logo\/image\/\",\"url\":\"https:\/\/www.embl.org\/news\/wp-content\/uploads\/2025\/09\/EMBL_logo_colour-1-300x144-1.png\",\"contentUrl\":\"https:\/\/www.embl.org\/news\/wp-content\/uploads\/2025\/09\/EMBL_logo_colour-1-300x144-1.png\",\"width\":300,\"height\":144,\"caption\":\"European Molecular Biology Laboratory\"},\"image\":{\"@id\":\"https:\/\/www.embl.org\/news\/#\/schema\/logo\/image\/\"},\"sameAs\":[\"https:\/\/www.facebook.com\/embl.org\/\",\"https:\/\/x.com\/embl\",\"https:\/\/www.instagram.com\/embl_org\/\",\"https:\/\/www.linkedin.com\/company\/15813\/\",\"https:\/\/www.youtube.com\/user\/emblmedia\/\"]},{\"@type\":\"Person\",\"@id\":\"https:\/\/www.embl.org\/news\/#\/schema\/person\/d8477ba2d7a6164b141a3872a25ee982\",\"name\":\"Vicky Hatch\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\/\/www.embl.org\/news\/#\/schema\/person\/image\/\",\"url\":\"https:\/\/secure.gravatar.com\/avatar\/6d864d58088d9e60f42c501aa30714d303efc1ca5aed268210905409910b90d5?s=96&d=mm&r=g\",\"contentUrl\":\"https:\/\/secure.gravatar.com\/avatar\/6d864d58088d9e60f42c501aa30714d303efc1ca5aed268210905409910b90d5?s=96&d=mm&r=g\",\"caption\":\"Vicky Hatch\"},\"url\":\"https:\/\/www.embl.org\/news\/author\/vicky-hatch-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2--2\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Large-scale study enables new insights into rare eye disorders | EMBL","description":"EMBL-EBI researchers use UK Biobank data to uncover new information about rare diseases of the eye.","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/www.embl.org\/news\/science\/large-scale-study-enables-new-insights-into-rare-eye-disorders\/","og_locale":"en_US","og_type":"article","og_title":"Large-scale study enables new insights into rare eye disorders | EMBL","og_description":"EMBL-EBI researchers use UK Biobank data to uncover new information about rare diseases of the eye.","og_url":"https:\/\/www.embl.org\/news\/science\/large-scale-study-enables-new-insights-into-rare-eye-disorders\/","og_site_name":"EMBL","article_publisher":"https:\/\/www.facebook.com\/embl.org\/","article_published_time":"2023-03-09T19:16:39+00:00","article_modified_time":"2023-03-09T19:16:46+00:00","og_image":[{"width":1000,"height":600,"url":"https:\/\/www.embl.org\/news\/wp-content\/uploads\/2023\/03\/2023-BIRNEY-Rare-eye-diseases-1000x600-1.png","type":"image\/png"}],"author":"Vicky Hatch","twitter_card":"summary_large_image","twitter_creator":"@embl","twitter_site":"@embl","twitter_misc":{"Written by":"Vicky Hatch","Est. reading time":"4 minutes"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"NewsArticle","@id":"https:\/\/www.embl.org\/news\/science\/large-scale-study-enables-new-insights-into-rare-eye-disorders\/#article","isPartOf":{"@id":"https:\/\/www.embl.org\/news\/science\/large-scale-study-enables-new-insights-into-rare-eye-disorders\/"},"author":{"name":"Vicky Hatch","@id":"https:\/\/www.embl.org\/news\/#\/schema\/person\/d8477ba2d7a6164b141a3872a25ee982"},"headline":"Large-scale study enables new insights into rare eye disorders","datePublished":"2023-03-09T19:16:39+00:00","dateModified":"2023-03-09T19:16:46+00:00","mainEntityOfPage":{"@id":"https:\/\/www.embl.org\/news\/science\/large-scale-study-enables-new-insights-into-rare-eye-disorders\/"},"wordCount":886,"publisher":{"@id":"https:\/\/www.embl.org\/news\/#organization"},"image":{"@id":"https:\/\/www.embl.org\/news\/science\/large-scale-study-enables-new-insights-into-rare-eye-disorders\/#primaryimage"},"thumbnailUrl":"https:\/\/www.embl.org\/news\/wp-content\/uploads\/2023\/03\/2023-BIRNEY-Rare-eye-diseases-1000x600-1.png","keywords":["bioinformatics","embl-ebi","eye","genomics","human ecosystems","press release","rare disease"],"articleSection":["Research highlights","Science"],"inLanguage":"en-US"},{"@type":"WebPage","@id":"https:\/\/www.embl.org\/news\/science\/large-scale-study-enables-new-insights-into-rare-eye-disorders\/","url":"https:\/\/www.embl.org\/news\/science\/large-scale-study-enables-new-insights-into-rare-eye-disorders\/","name":"Large-scale study enables new insights into rare eye disorders | EMBL","isPartOf":{"@id":"https:\/\/www.embl.org\/news\/#website"},"primaryImageOfPage":{"@id":"https:\/\/www.embl.org\/news\/science\/large-scale-study-enables-new-insights-into-rare-eye-disorders\/#primaryimage"},"image":{"@id":"https:\/\/www.embl.org\/news\/science\/large-scale-study-enables-new-insights-into-rare-eye-disorders\/#primaryimage"},"thumbnailUrl":"https:\/\/www.embl.org\/news\/wp-content\/uploads\/2023\/03\/2023-BIRNEY-Rare-eye-diseases-1000x600-1.png","datePublished":"2023-03-09T19:16:39+00:00","dateModified":"2023-03-09T19:16:46+00:00","description":"EMBL-EBI researchers use UK Biobank data to uncover new information about rare diseases of the eye.","inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/www.embl.org\/news\/science\/large-scale-study-enables-new-insights-into-rare-eye-disorders\/"]}]},{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/www.embl.org\/news\/science\/large-scale-study-enables-new-insights-into-rare-eye-disorders\/#primaryimage","url":"https:\/\/www.embl.org\/news\/wp-content\/uploads\/2023\/03\/2023-BIRNEY-Rare-eye-diseases-1000x600-1.png","contentUrl":"https:\/\/www.embl.org\/news\/wp-content\/uploads\/2023\/03\/2023-BIRNEY-Rare-eye-diseases-1000x600-1.png","width":1000,"height":600,"caption":"UK Biobank data enables new insights into rare eye disorders. Credit: Karen Arnott\/EMBL-EBI"},{"@type":"WebSite","@id":"https:\/\/www.embl.org\/news\/#website","url":"https:\/\/www.embl.org\/news\/","name":"European Molecular Biology Laboratory News","description":"News from the European Molecular Biology Laboratory","publisher":{"@id":"https:\/\/www.embl.org\/news\/#organization"},"alternateName":"EMBL News","potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/www.embl.org\/news\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Organization","@id":"https:\/\/www.embl.org\/news\/#organization","name":"European Molecular Biology Laboratory","alternateName":"EMBL","url":"https:\/\/www.embl.org\/news\/","logo":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/www.embl.org\/news\/#\/schema\/logo\/image\/","url":"https:\/\/www.embl.org\/news\/wp-content\/uploads\/2025\/09\/EMBL_logo_colour-1-300x144-1.png","contentUrl":"https:\/\/www.embl.org\/news\/wp-content\/uploads\/2025\/09\/EMBL_logo_colour-1-300x144-1.png","width":300,"height":144,"caption":"European Molecular Biology Laboratory"},"image":{"@id":"https:\/\/www.embl.org\/news\/#\/schema\/logo\/image\/"},"sameAs":["https:\/\/www.facebook.com\/embl.org\/","https:\/\/x.com\/embl","https:\/\/www.instagram.com\/embl_org\/","https:\/\/www.linkedin.com\/company\/15813\/","https:\/\/www.youtube.com\/user\/emblmedia\/"]},{"@type":"Person","@id":"https:\/\/www.embl.org\/news\/#\/schema\/person\/d8477ba2d7a6164b141a3872a25ee982","name":"Vicky Hatch","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/www.embl.org\/news\/#\/schema\/person\/image\/","url":"https:\/\/secure.gravatar.com\/avatar\/6d864d58088d9e60f42c501aa30714d303efc1ca5aed268210905409910b90d5?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/6d864d58088d9e60f42c501aa30714d303efc1ca5aed268210905409910b90d5?s=96&d=mm&r=g","caption":"Vicky Hatch"},"url":"https:\/\/www.embl.org\/news\/author\/vicky-hatch-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2--2\/"}]}},"field_target_display":"both","field_article_language":{"value":"english","label":"English"},"fimg_url":"https:\/\/www.embl.org\/news\/wp-content\/uploads\/2023\/03\/2023-BIRNEY-Rare-eye-diseases-1000x600-1.png","featured_image_src":"https:\/\/www.embl.org\/news\/wp-content\/uploads\/2023\/03\/2023-BIRNEY-Rare-eye-diseases-1000x600-1.png","_links":{"self":[{"href":"https:\/\/www.embl.org\/news\/wp-json\/wp\/v2\/posts\/57275","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.embl.org\/news\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.embl.org\/news\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.embl.org\/news\/wp-json\/wp\/v2\/users\/77"}],"replies":[{"embeddable":true,"href":"https:\/\/www.embl.org\/news\/wp-json\/wp\/v2\/comments?post=57275"}],"version-history":[{"count":7,"href":"https:\/\/www.embl.org\/news\/wp-json\/wp\/v2\/posts\/57275\/revisions"}],"predecessor-version":[{"id":57333,"href":"https:\/\/www.embl.org\/news\/wp-json\/wp\/v2\/posts\/57275\/revisions\/57333"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.embl.org\/news\/wp-json\/wp\/v2\/media\/57277"}],"wp:attachment":[{"href":"https:\/\/www.embl.org\/news\/wp-json\/wp\/v2\/media?parent=57275"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.embl.org\/news\/wp-json\/wp\/v2\/categories?post=57275"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.embl.org\/news\/wp-json\/wp\/v2\/tags?post=57275"},{"taxonomy":"embl_taxonomy","embeddable":true,"href":"https:\/\/www.embl.org\/news\/wp-json\/wp\/v2\/embl_taxonomy?post=57275"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}