{"id":101,"date":"2023-08-08T11:59:11","date_gmt":"2023-08-08T11:59:11","guid":{"rendered":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/?p=101"},"modified":"2023-08-08T12:06:29","modified_gmt":"2023-08-08T12:06:29","slug":"home","status":"publish","type":"post","link":"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/2023\/08\/08\/home\/","title":{"rendered":"Home"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">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% or 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 class=\"wp-block-paragraph\">Research into the genomics of rare disease in Exeter focuses on using genome-wide sequencing to identify and understand genetic causes of rare diseases. Our work includes:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Discovery<\/strong> of novel causes of rare genetic (monogenic) disease, with a particular focus on neurodevelopmental, neurodegenerative and metabolic disorders.<\/li>\n\n\n\n<li><strong>Interpretation<\/strong> of rare genetic variants linked with monogenic disease, including investigation of <strong>penetrance<\/strong> in different clinical and population cohorts.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">The <a href=\"https:\/\/www.exeter.ac.uk\/research\/biomedicalresearchcentre\/\">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\">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.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>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 in 2000 people, and the majority affect children. Around 80% or rare diseases have a single genetic cause, but in many cases the causative gene [&hellip;]<\/p>\n","protected":false},"author":937,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_feature_clip_id":0,"_jetpack_memberships_contains_paid_content":false,"footnotes":"","jetpack_post_was_ever_published":false},"categories":[1],"tags":[],"class_list":["post-101","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"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\/2023\/08\/08\/home\/\" \/>\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=\"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 in 2000 people, and the majority affect children. Around 80% or rare diseases have a single genetic cause, but in many cases the causative gene [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/2023\/08\/08\/home\/\" \/>\n<meta property=\"og:site_name\" content=\"Rare Disease Genomics\" \/>\n<meta property=\"article:published_time\" content=\"2023-08-08T11:59:11+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2023-08-08T12:06:29+00:00\" \/>\n<meta name=\"author\" content=\"cw643\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"cw643\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/2023\/08\/08\/home\/\",\"url\":\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/2023\/08\/08\/home\/\",\"name\":\"Home - Rare Disease Genomics\",\"isPartOf\":{\"@id\":\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/#website\"},\"datePublished\":\"2023-08-08T11:59:11+00:00\",\"dateModified\":\"2023-08-08T12:06:29+00:00\",\"author\":{\"@id\":\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/#\/schema\/person\/d620af9b353d98ef32d1371b088ecd34\"},\"breadcrumb\":{\"@id\":\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/2023\/08\/08\/home\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/2023\/08\/08\/home\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/2023\/08\/08\/home\/#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\"},{\"@type\":\"Person\",\"@id\":\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/#\/schema\/person\/d620af9b353d98ef32d1371b088ecd34\",\"name\":\"cw643\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/#\/schema\/person\/image\/\",\"url\":\"https:\/\/secure.gravatar.com\/avatar\/1eef35072e0fb445c12aa27552f2dc6029f8591f86df58ec5ba9645d0d573709?s=96&d=mm&r=g\",\"contentUrl\":\"https:\/\/secure.gravatar.com\/avatar\/1eef35072e0fb445c12aa27552f2dc6029f8591f86df58ec5ba9645d0d573709?s=96&d=mm&r=g\",\"caption\":\"cw643\"},\"url\":\"https:\/\/sites.exeter.ac.uk\/rarediseasegenomics\/author\/cw643\/\"}]}<\/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\/2023\/08\/08\/home\/","og_locale":"en_US","og_type":"article","og_title":"Home - Rare Disease Genomics","og_description":"Rare diseases are estimated to affect around 1 in 17 individuals, or 3.5 million people in the UK. 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