{"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":"2026-01-22T12:45:53","modified_gmt":"2026-01-22T12:45:53","slug":"home","status":"publish","type":"page","link":"https:\/\/sites.exeter.ac.uk\/translationalgenomics\/","title":{"rendered":"Home"},"content":{"rendered":"\n<p><\/p>\n\n\n\n<p>The aim of the <strong>Translational Genomics <\/strong>research team at the University of Exeter (led by <a href=\"https:\/\/experts.exeter.ac.uk\/26347-caroline-wright\">Professor Caroline Wright<\/a>) is to use large-scale genomic sequencing datasets, coupled with other -omic datasets, to identify and understand genetic causes of disease and translate these findings into healthcare. Our work is highly collaborative, and has two primary aims: improving diagnosis and informing screening for rare genetic diseases.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">Improving diagnosis<\/h2>\n\n\n\n<p>We aim to improve <strong>discovery and interpretation of novel causes of rare genetic (monogenic) disease,<\/strong> with a particular focus on paediatric neurodevelopmental disorders. Rare diseases are estimated to affect around 1 in 17 individuals, and around 80% of rare diseases have a single genetic cause; making a rapid and robust genetic diagnosis can be transformative for patients by enabling precision treatment. Current projects in the group include:<\/p>\n\n\n\n<ul>\n<li>re-analysing genome-wide sequencing data from rare disease cases to find new diagnoses<\/li>\n\n\n\n<li>investigating tissue-specific isoforms using long-read RNA sequencing data<\/li>\n\n\n\n<li>predicting the effect of protein-truncating variants<\/li>\n\n\n\n<li>analysing the genome-wide burden of <em>de novo<\/em> variants<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">Informing screening<\/h2>\n\n\n\n<p>We aim to understand <strong>incomplete penetrance of pathogenic variants in population cohorts<\/strong>, including investigating modifiers of penetrance. As we move towards integrating genomics into public health for prediction and prevention, evidence is needed to inform implementation and understand the risks associated with monogenic conditions when found outside of symptomatic or familial genetic testing. Current projects in the group include:<\/p>\n\n\n\n<ul>\n<li>quantifying the penetrance of pathogenic variants in large population cohorts<\/li>\n\n\n\n<li>evaluating genes and conditions under consideration for newborn genome screening<\/li>\n\n\n\n<li>exploring ethical and public health implications of genomic screening<\/li>\n\n\n\n<li>investigating modifiers of penetrance <\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">Understanding pathomechanism<\/h2>\n\n\n\n<p>We aim to improve <strong>understanding of the mechanisms of genetic diseases<\/strong> and the effect of rare genetic variation on human phenotypes. Current projects in the group include:<\/p>\n\n\n\n<ul>\n<li>using circulating proteomic data to inform rare variant interpretation<\/li>\n\n\n\n<li>performing biologically-informed aggregate variant burden testing across a range of phenotypes<\/li>\n\n\n\n<li>distinguishing gain versus loss-of-function mechanisms in the coding and noncoding genome<\/li>\n\n\n\n<li>exploring the role of somatic mosaicism in disease<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">Research Studies and Collaborations<\/h2>\n\n\n\n<p>Our researchers run and are involved with a number of large-scale studies, including:<\/p>\n\n\n\n<ul>\n<li><a href=\"https:\/\/paradigmgenomics.org\/\" target=\"_blank\" rel=\"noreferrer noopener\"><strong>PARADIGM:<\/strong> Primary Annotated Resources to Advance Discovery In Genomic Medicine (Wellcome)<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ddduk.org\/\" target=\"_blank\" rel=\"noreferrer noopener\"><strong>DDD<\/strong>: Deciphering Developmental Disorders Study (Wellcome)<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/gtr.ukri.org\/projects?ref=MR%2FX021351%2F1\" target=\"_blank\" rel=\"noreferrer noopener\">Evaluating scientific and ethical approaches to newborn screening with whole-genome sequencing using large population cohorts (MRC)<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/gtr.ukri.org\/projects?ref=MR%2FY003748%2F1\" target=\"_blank\" rel=\"noreferrer noopener\">Using whole genome sequencing to identify non-coding elements associated with diabetes and related traits across ancestries (MRC)<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/sites.exeter.ac.uk\/ironoverload\/\" target=\"_blank\" rel=\"noreferrer noopener\">Genetic and Environmental Modifiers of Haemochromatosis Clinical Penetrance (MRC)<\/a><\/li>\n<\/ul>\n\n\n\n<p>We collaborate widely, and work with numerous large datasets including <a href=\"https:\/\/www.ukbiobank.ac.uk\/\" target=\"_blank\" rel=\"noreferrer noopener\">UK Biobank<\/a>, <a href=\"https:\/\/www.genomicsengland.co.uk\/\" target=\"_blank\" rel=\"noreferrer noopener\">Genomics England<\/a> and <a href=\"https:\/\/www.deciphergenomics.org\/\" target=\"_blank\" rel=\"noreferrer noopener\">DECIPHER<\/a>. We are part of the <a href=\"https:\/\/sites.exeter.ac.uk\/exeterbrc\/\" target=\"_blank\" rel=\"noreferrer noopener\">NIHR Exeter Biomedical Research Centre (BRC)<\/a>, which has a specific <a href=\"https:\/\/www.exeterbrc.nihr.ac.uk\/research\/genetics-and-genomics\/\" target=\"_blank\" rel=\"noreferrer noopener\"><strong>Genetic &amp; Genomics<\/strong> theme<\/a> that 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. We also work closely with 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>) through the <a href=\"https:\/\/www.england.nhs.uk\/genomics\/nhs-genomic-networks-of-excellence\/#rare-and-inherited-disease\" target=\"_blank\" rel=\"noreferrer noopener\">NHS Genomic Network of Excellence in Rare and Inherited Diseases.<\/a> We also interact with several doctoral training programmes, including the <a href=\"https:\/\/gw4biomed.ac.uk\/\">GW4 Biomed MRC DTP<\/a> and <a href=\"https:\/\/gw4-cat.ac.uk\/\">GW4-CAP HP<\/a>.<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"2509\" height=\"229\" src=\"https:\/\/sites.exeter.ac.uk\/translationalgenomics\/wp-content\/uploads\/sites\/645\/2025\/07\/Screenshot-2025-07-10-at-9.45.39\u202fam.png\" alt=\"\" class=\"wp-image-909\" srcset=\"https:\/\/sites.exeter.ac.uk\/translationalgenomics\/wp-content\/uploads\/sites\/645\/2025\/07\/Screenshot-2025-07-10-at-9.45.39\u202fam.png 2509w, https:\/\/sites.exeter.ac.uk\/translationalgenomics\/wp-content\/uploads\/sites\/645\/2025\/07\/Screenshot-2025-07-10-at-9.45.39\u202fam-300x27.png 300w, https:\/\/sites.exeter.ac.uk\/translationalgenomics\/wp-content\/uploads\/sites\/645\/2025\/07\/Screenshot-2025-07-10-at-9.45.39\u202fam-1024x93.png 1024w, https:\/\/sites.exeter.ac.uk\/translationalgenomics\/wp-content\/uploads\/sites\/645\/2025\/07\/Screenshot-2025-07-10-at-9.45.39\u202fam-768x70.png 768w, https:\/\/sites.exeter.ac.uk\/translationalgenomics\/wp-content\/uploads\/sites\/645\/2025\/07\/Screenshot-2025-07-10-at-9.45.39\u202fam-1536x140.png 1536w, https:\/\/sites.exeter.ac.uk\/translationalgenomics\/wp-content\/uploads\/sites\/645\/2025\/07\/Screenshot-2025-07-10-at-9.45.39\u202fam-2048x187.png 2048w\" sizes=\"(max-width: 2509px) 100vw, 2509px\" \/><\/figure>\n","protected":false},"excerpt":{"rendered":"<p>The aim of the Translational Genomics research team at the University of Exeter (led by Professor Caroline Wright) is to use large-scale genomic sequencing datasets, coupled with other -omic datasets, to identify and understand genetic causes of disease and translate these findings into healthcare. Our work is highly collaborative, and has two primary aims: improving [&hellip;]<\/p>\n","protected":false},"author":1,"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 - Translational 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\/translationalgenomics\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Home - Translational Genomics\" \/>\n<meta property=\"og:description\" content=\"The aim of the Translational Genomics research team at the University of Exeter (led by Professor Caroline Wright) is to use large-scale genomic sequencing datasets, coupled with other -omic datasets, to identify and understand genetic causes of disease and translate these findings into healthcare. 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