{"id":8845,"date":"2026-01-19T18:50:48","date_gmt":"2026-01-19T17:50:48","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=events&#038;p=8845"},"modified":"2026-01-19T18:50:48","modified_gmt":"2026-01-19T17:50:48","slug":"ern-ithaca-webinar-udn-sweden-multi-omics-for-precision-diagnostics","status":"publish","type":"events","link":"https:\/\/ern-ithaca.eu\/de\/events-news\/upcoming-events\/ern-ithaca-webinar-udn-sweden-multi-omics-for-precision-diagnostics\/","title":{"rendered":"ERN-ITHACA-Webinar: \u201cUDN Sweden: Multi-Omics f\u00fcr die Pr\u00e4zisionsdiagnostik\u201d"},"content":{"rendered":"<p class=\"wp-block-paragraph\"><strong>UDN Sweden<\/strong> is a national initiative within Genomic Medicine Sweden, led from UDP Karolinska, that diagnoses children with rare, unexplained disorders using <strong>advanced genomic technologies<\/strong>. The program combines careful standardized phenotyping with short-read whole-genome sequencing trios, long-read sequencing, RNA-sequencing, and EPIC methylation arrays, when standard testing fails. It brings together <strong>clinicians, molecular geneticists, bioinformaticians and researchers<\/strong> across all Swedish university hospitals to harmonize diagnostics and ensure equitable access. UDP Karolinska is part of the global Undiagnosed Diseases Network International. Its goal is to achieve precise diagnoses, improve care, and identify new disease mechanisms.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Date<\/strong>: Tuesday 17 February, 05:00 &#8211; 06:30 PM CET<\/p>\n\n\n\n<div style=\"height:62px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Programm<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Welcome and Introduction&nbsp;UDN Sweden&nbsp;<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><em>Undiagnosed Diseases Network Sweden<\/em><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Speaker:\u00a0Ann Nordgren, Professor and Senior Consultant in Clinical genetics<\/li>\n\n\n\n<li>From: Karolinska University Hospital and Karolinska Institute, Stockholm, Sweden\u00a0<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>UDN Sweden &#8211; Study Design &amp; National Hackathon<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Speaker:\u00a0 Fulya Taylan, Associate professor in Medical genetics<\/li>\n\n\n\n<li>From: Karolinska University Hospital and Karolinska Institute, Stockholm, Sweden\u00a0<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>UDN Sweden &#8211; Results from srWGS and RNA-seq<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Speaker:\u00a0Angelica Delgado Vega, MD PhD in Clinical genetics<\/li>\n\n\n\n<li>From: Karolinska University hospital and Karolinska Institute, Stockholm, Sweden<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Long-read sequencing and Complex structural variants<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Speaker:\u00a0Anna Lindstrand, Professor and Senior Consultant in Clinical genetics<\/li>\n\n\n\n<li>From: Karolinska University hospital and Karolinska Institute, Stockholm, Sweden<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Repeat expansions<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Speaker:\u00a0H\u00e5kan Thonberg, Associate professor in Medical genetics\u00a0From: Karolinska University Hospital and Karolinska Institute, Stockholm, Sweden<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Other difficult-to-find changes in the human genome<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Speaker:\u00a0Jesper Eisfeldt, PhD, Bioinformatician<\/li>\n\n\n\n<li>From: Karolinska University Hospital and Karolinska Institute, Stockholm, Sweden<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><em><strong>Discussion time,\u00a0<\/strong><\/em><strong>Conclusion with speakers and moderator<\/strong><\/p>\n\n\n\n<div style=\"height:62px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Anmeldung<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Link to register: <a href=\"https:\/\/events.teams.microsoft.com\/event\/672fe221-80e1-44ea-8a4a-3b03d4cfa0a2@2461c129-d44f-406d-a778-d1a3c4c1527c\">Virtuelle Veranstaltungen von Microsoft auf Basis von Teams<\/a><\/p>","protected":false},"featured_media":0,"template":"","categories":[],"tags":[],"class_list":["post-8845","events","type-events","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.7 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>ERN-ITHACA Webinar: &quot;UDN Sweden: multi-omics for precision diagnostics&quot; - ERN ITHACA<\/title>\n<meta name=\"robots\" content=\"noindex, follow\" \/>\n<meta property=\"og:locale\" content=\"de_DE\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ERN-ITHACA Webinar: &quot;UDN Sweden: multi-omics for precision diagnostics&quot; - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"UDN Sweden is a national initiative within Genomic Medicine Sweden, led from UDP Karolinska, that diagnoses children with rare, unexplained disorders using advanced genomic technologies. The program combines careful standardized phenotyping with short-read whole-genome sequencing trios, long-read sequencing, RNA-sequencing, and EPIC methylation arrays, when standard testing fails. It brings together clinicians, molecular geneticists, bioinformaticians and [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/ern-ithaca.eu\/de\/events-news\/upcoming-events\/ern-ithaca-webinar-udn-sweden-multi-omics-for-precision-diagnostics\/\" \/>\n<meta property=\"og:site_name\" content=\"ERN ITHACA\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:site\" content=\"@ERNIthaca\" \/>\n<meta name=\"twitter:label1\" content=\"Gesch\u00e4tzte Lesezeit\" \/>\n\t<meta name=\"twitter:data1\" content=\"1\u00a0Minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/events-news\\\/upcoming-events\\\/ern-ithaca-webinar-udn-sweden-multi-omics-for-precision-diagnostics\\\/\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/events-news\\\/upcoming-events\\\/ern-ithaca-webinar-udn-sweden-multi-omics-for-precision-diagnostics\\\/\",\"name\":\"ERN-ITHACA Webinar: \\\"UDN Sweden: multi-omics for precision diagnostics\\\" - ERN ITHACA\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#website\"},\"datePublished\":\"2026-01-19T17:50:48+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/events-news\\\/upcoming-events\\\/ern-ithaca-webinar-udn-sweden-multi-omics-for-precision-diagnostics\\\/#breadcrumb\"},\"inLanguage\":\"de\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/ern-ithaca.eu\\\/events-news\\\/upcoming-events\\\/ern-ithaca-webinar-udn-sweden-multi-omics-for-precision-diagnostics\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/events-news\\\/upcoming-events\\\/ern-ithaca-webinar-udn-sweden-multi-omics-for-precision-diagnostics\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/ern-ithaca.eu\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"events > upcoming events\",\"item\":\"https:\\\/\\\/ern-ithaca.eu\\\/events\\\/upcoming-events\\\/\"},{\"@type\":\"ListItem\",\"position\":3,\"name\":\"ERN-ITHACA Webinar: &#8220;UDN Sweden: multi-omics for precision diagnostics&#8221;\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#website\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/\",\"name\":\"ERN ITHACA\",\"description\":\"WELCOME TO ERN-ITHACA WEBSITE!\",\"publisher\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/ern-ithaca.eu\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"de\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#organization\",\"name\":\"ERN-ITHACA\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"de\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/wp-content\\\/uploads\\\/2022\\\/02\\\/Logo-ERN-ITHACA.jpg\",\"contentUrl\":\"https:\\\/\\\/ern-ithaca.eu\\\/wp-content\\\/uploads\\\/2022\\\/02\\\/Logo-ERN-ITHACA.jpg\",\"width\":454,\"height\":172,\"caption\":\"ERN-ITHACA\"},\"image\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#\\\/schema\\\/logo\\\/image\\\/\"},\"sameAs\":[\"https:\\\/\\\/x.com\\\/ERNIthaca\",\"https:\\\/\\\/www.linkedin.com\\\/company\\\/ithaca-european-reference-network-on-congenital-malformations-ans-rare-intellectual-disability\\\/?viewAsMember=true\"]}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"ERN-ITHACA Webinar: \"UDN Sweden: multi-omics for precision diagnostics\" - ERN ITHACA","robots":{"index":"noindex","follow":"follow"},"og_locale":"de_DE","og_type":"article","og_title":"ERN-ITHACA Webinar: \"UDN Sweden: multi-omics for precision diagnostics\" - ERN ITHACA","og_description":"UDN Sweden is a national initiative within Genomic Medicine Sweden, led from UDP Karolinska, that diagnoses children with rare, unexplained disorders using advanced genomic technologies. 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