{"id":117,"date":"2023-08-08T12:10:45","date_gmt":"2023-08-08T12:10:45","guid":{"rendered":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/?page_id=117"},"modified":"2025-02-27T20:55:53","modified_gmt":"2025-02-27T20:55:53","slug":"home","status":"publish","type":"page","link":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/","title":{"rendered":"Home"},"content":{"rendered":"\n<p><\/p>\n\n\n\n<p>Research into the <strong>genomics of rare disease<\/strong> in Exeter focuses on using genome-wide sequencing to identify and understand genetic causes of disease. Our work includes:<\/p>\n\n\n\n<ul>\n<li><strong>Discovery<\/strong> of novel causes and mechanisms of rare genetic (monogenic) disease, with a particular focus on neurodevelopmental and neurodegenerative diseases, as well as diabetes and other metabolic disorders.<\/li>\n\n\n\n<li><strong>Interpretation<\/strong> of rare genetic variants linked with disease, including investigation of <strong>penetrance<\/strong> and modifiers in different clinical and population cohorts and the implications for <strong>diagnosis and screening<\/strong>.<\/li>\n<\/ul>\n\n\n\n<p>Rare diseases are estimated to affect around <strong>1 in 17 individuals<\/strong>, or 3.5 million people in the UK. There are thousands of different rare diseases, each affecting fewer than 1 in 2000 people, and the majority affect children. Around <strong>80% of rare diseases have a single genetic cause<\/strong>, but in many cases the causative gene is still unknown. Making a genetic diagnosis can be transformative for patients, enabling targeted treatments and personalised clinical management, as well as facilitating accurate counselling about the future.<\/p>\n\n\n\n<p>The <a href=\"https:\/\/sites.exeter.ac.uk\/exeterbrc\/\" target=\"_blank\" rel=\"noreferrer noopener\">Exeter NIHR Biomedical Research Centre<\/a> has a specific <strong>Genetic &amp; Genomics<\/strong> theme, which aims to unlock the power of genetics to improve diagnosis of rare illnesses in children and rare cancers, and to create tailored treatments for common diseases. The University of Exeter and Royal Devon &amp; Exeter Hospital work closely to ensure the translation of new knowledge to benefit patients. The Exeter NHS Genomics Laboratory (part of the <a href=\"https:\/\/www.nbt.nhs.uk\/south-west-genomic-laboratory-hub\" target=\"_blank\" rel=\"noreferrer noopener\">South West Genomics Laboratory Hub)<\/a> is co-located with University researchers, and provides diagnostic sequencing in the South West region, as well as the national NHS rapid genome sequencing service for acutely unwell children with a likely monogenic disorder (<a rel=\"noreferrer noopener\" href=\"https:\/\/www.exeterlaboratory.com\/genetics\/genome-sequencing\/\" data-type=\"URL\" data-id=\"https:\/\/www.exeterlaboratory.com\/genetics\/genome-sequencing\/\" target=\"_blank\">R14 service<\/a>).<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Research into the genomics of rare disease in Exeter focuses on using genome-wide sequencing to identify and understand genetic causes of disease. Our work includes: Rare diseases are estimated to affect around 1 in 17 individuals, or 3.5 million people in the UK. There are thousands of different rare diseases, each affecting fewer than 1 [&hellip;]<\/p>\n","protected":false},"author":937,"featured_media":129,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"page-sidebar-boxed-feature-img.php","meta":{"_acf_changed":false,"footnotes":""},"categories":[],"tags":[],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.0 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Home - Rare Disease Genomics<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Home - Rare Disease Genomics\" \/>\n<meta property=\"og:description\" content=\"Research into the genomics of rare disease in Exeter focuses on using genome-wide sequencing to identify and understand genetic causes of disease. Our work includes: Rare diseases are estimated to affect around 1 in 17 individuals, or 3.5 million people in the UK. There are thousands of different rare diseases, each affecting fewer than 1 [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/\" \/>\n<meta property=\"og:site_name\" content=\"Rare Disease Genomics\" \/>\n<meta property=\"article:modified_time\" content=\"2025-02-27T20:55:53+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/wp-content\/uploads\/sites\/239\/2023\/08\/dna-3539309_1920-e1691504007450.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1920\" \/>\n\t<meta property=\"og:image:height\" content=\"960\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data1\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/\",\"url\":\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/\",\"name\":\"Home - Rare Disease Genomics\",\"isPartOf\":{\"@id\":\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/#primaryimage\"},\"image\":{\"@id\":\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/#primaryimage\"},\"thumbnailUrl\":\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/wp-content\/uploads\/sites\/239\/2023\/08\/dna-3539309_1920-e1691504007450.jpg\",\"datePublished\":\"2023-08-08T12:10:45+00:00\",\"dateModified\":\"2025-02-27T20:55:53+00:00\",\"breadcrumb\":{\"@id\":\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/#primaryimage\",\"url\":\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/wp-content\/uploads\/sites\/239\/2023\/08\/dna-3539309_1920-e1691504007450.jpg\",\"contentUrl\":\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/wp-content\/uploads\/sites\/239\/2023\/08\/dna-3539309_1920-e1691504007450.jpg\",\"width\":1920,\"height\":960},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Home\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/#website\",\"url\":\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/\",\"name\":\"Rare Disease Genomics\",\"description\":\"using genomics to diagnose rare and heritable diseases\",\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/?s={search_term_string}\"},\"query-input\":\"required name=search_term_string\"}],\"inLanguage\":\"en-US\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Home - Rare Disease Genomics","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:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/","og_locale":"en_US","og_type":"article","og_title":"Home - Rare Disease Genomics","og_description":"Research into the genomics of rare disease in Exeter focuses on using genome-wide sequencing to identify and understand genetic causes of disease. Our work includes: Rare diseases are estimated to affect around 1 in 17 individuals, or 3.5 million people in the UK. There are thousands of different rare diseases, each affecting fewer than 1 [&hellip;]","og_url":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/","og_site_name":"Rare Disease Genomics","article_modified_time":"2025-02-27T20:55:53+00:00","og_image":[{"width":1920,"height":960,"url":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/wp-content\/uploads\/sites\/239\/2023\/08\/dna-3539309_1920-e1691504007450.jpg","type":"image\/jpeg"}],"twitter_card":"summary_large_image","twitter_misc":{"Est. reading time":"2 minutes"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"WebPage","@id":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/","url":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/","name":"Home - Rare Disease Genomics","isPartOf":{"@id":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/#website"},"primaryImageOfPage":{"@id":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/#primaryimage"},"image":{"@id":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/#primaryimage"},"thumbnailUrl":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/wp-content\/uploads\/sites\/239\/2023\/08\/dna-3539309_1920-e1691504007450.jpg","datePublished":"2023-08-08T12:10:45+00:00","dateModified":"2025-02-27T20:55:53+00:00","breadcrumb":{"@id":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/"]}]},{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/#primaryimage","url":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/wp-content\/uploads\/sites\/239\/2023\/08\/dna-3539309_1920-e1691504007450.jpg","contentUrl":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/wp-content\/uploads\/sites\/239\/2023\/08\/dna-3539309_1920-e1691504007450.jpg","width":1920,"height":960},{"@type":"BreadcrumbList","@id":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/"},{"@type":"ListItem","position":2,"name":"Home"}]},{"@type":"WebSite","@id":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/#website","url":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/","name":"Rare Disease Genomics","description":"using genomics to diagnose rare and heritable diseases","potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/?s={search_term_string}"},"query-input":"required name=search_term_string"}],"inLanguage":"en-US"}]}},"jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/wp-json\/wp\/v2\/pages\/117"}],"collection":[{"href":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/wp-json\/wp\/v2\/users\/937"}],"replies":[{"embeddable":true,"href":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/wp-json\/wp\/v2\/comments?post=117"}],"version-history":[{"count":12,"href":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/wp-json\/wp\/v2\/pages\/117\/revisions"}],"predecessor-version":[{"id":879,"href":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/wp-json\/wp\/v2\/pages\/117\/revisions\/879"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/wp-json\/wp\/v2\/media\/129"}],"wp:attachment":[{"href":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/wp-json\/wp\/v2\/media?parent=117"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/wp-json\/wp\/v2\/categories?post=117"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/wp-json\/wp\/v2\/tags?post=117"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}