{"id":239,"date":"2022-02-07T15:09:44","date_gmt":"2022-02-07T14:09:44","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?page_id=239"},"modified":"2025-04-07T11:21:56","modified_gmt":"2025-04-07T09:21:56","slug":"research-innovation","status":"publish","type":"page","link":"https:\/\/ern-ithaca.eu\/de\/our-workgroups\/research-innovation\/","title":{"rendered":"Forschung und Innovation (AG 12)"},"content":{"rendered":"<h2 class=\"wp-block-heading\" id=\"taskforce-leads\">Vorsitzender und stellvertretender Vorsitzender der Arbeitsgruppe <\/h2>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:15%\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"237\" height=\"331\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Pr-Marco-Tartaglia-.jpeg\" alt=\"\" class=\"wp-image-240\"\/><\/figure>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-vertically-aligned-center is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:35%\">\n<p class=\"wp-block-paragraph\"><strong>Prof. Marco Tartaglia<br><\/strong>(Italien)<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:15%\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"276\" height=\"320\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Dr-Zeynep-Tumer.jpeg\" alt=\"\" class=\"wp-image-241\"\/><\/figure>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-vertically-aligned-center is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:35%\">\n<p class=\"wp-block-paragraph\"><strong><strong>Prof. Zeynep T\u00fcmer<br><\/strong><\/strong>(D\u00e4nemark)<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:36px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Das Ziel der Arbeitsgruppe besteht darin, europ\u00e4ischen Forschungsprojekten ein strukturiertes Netzwerk klinischer Dienstleistungen sowie ein Umfeld f\u00fcr die Vernetzung im Rahmen gemeinsamer Forschungsvorhaben zur Verf\u00fcgung zu stellen, einschlie\u00dflich aller Ma\u00dfnahmen, die sich an Patienten richten, bei denen trotz gr\u00fcndlicher genetischer Untersuchungen einschlie\u00dflich Genomanalysen keine Diagnose gestellt werden konnte.&nbsp;<\/strong><\/p>\n\n\n\n<div style=\"height:22px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">F\u00f6rderung der gemeinsamen Forschung &nbsp;<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Um die Zusammenarbeit zwischen Forschern zu f\u00f6rdern, hat diese Arbeitsgruppe eine virtuelle Plattform eingerichtet f\u00fcr <a href=\"https:\/\/ern-ithaca.eu\/de\/for-clinicians\/calls-for-collaboration\/\">ruft zur Zusammenarbeit in der klinischen Forschung auf<\/a>. Ziel dieser Aufrufe ist es, dabei zu helfen, <strong>Kliniker oder Forscher, die sich mit demselben Gen oder derselben Erkrankung befassen, sollen miteinander in Kontakt treten und ihre Daten b\u00fcndeln. <\/strong>Diese Kooperationen sollen zum raschen Aufbau einheitlicher klinischer Fallserien f\u00fcr seltene monogene Erkrankungen f\u00fchren, die dazu beitragen sollen, das klinische Spektrum und den nat\u00fcrlichen Verlauf k\u00fcrzlich identifizierter Krankheitsbilder im Bereich ITHACA besser abzugrenzen.&nbsp;<\/p>\n\n\n\n<figure class=\"wp-block-image size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"1168\" height=\"591\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2024\/10\/Capture-decran-2024-10-28-165527.png\" alt=\"\" class=\"wp-image-6210\" style=\"width:330px;height:auto\" srcset=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2024\/10\/Capture-decran-2024-10-28-165527.png 1168w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2024\/10\/Capture-decran-2024-10-28-165527-600x304.png 600w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2024\/10\/Capture-decran-2024-10-28-165527-768x389.png 768w\" sizes=\"auto, (max-width: 1168px) 100vw, 1168px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><em>Beispiele f\u00fcr zwei Aufrufe zur Zusammenarbeit auf unserer Plattform<\/em><\/p>\n\n\n\n<div style=\"height:28px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"wp-block-paragraph\">Die Arbeitsgruppe organisiert au\u00dferdem eine <strong>J\u00e4hrlicher Forschungsworkshop<\/strong> um den ERN-Mitgliedern eine neue Plattform zu bieten, auf der sie ihre gemeinsamen Forschungsprojekte vorstellen und diskutieren k\u00f6nnen. Diese Veranstaltung findet jedes Jahr im Dezember im Anschluss an die ERN-ITHACA-Vorstandssitzung statt. Ziel dieser Initiative ist es, die Zusammenarbeit sowie den Austausch von Wissen und Fachkenntnissen innerhalb der ERN-ITHACA-Gemeinschaft zu f\u00f6rdern und die Entwicklung neuer Forschungsprojekte zu erleichtern.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Die Mitglieder unserer Arbeitsgruppe entwickeln au\u00dferdem ein neues <strong>Partnervermittlungsdatenbank<\/strong> Darin werden Ausschreibungen f\u00fcr konkrete Projekte sowie eine Liste von Labors mit Angaben zu deren Fachkenntnissen, Werkzeugen, Plattformen und den verwendeten Krankheitsmodellen enthalten sein, die f\u00fcr eine Zusammenarbeit offen sind. Ein neuer ITHACA-Workshop, der diesem Projekt gewidmet ist, befindet sich ebenfalls in Vorbereitung. &nbsp;<\/p>\n\n\n\n<div style=\"height:51px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Epigenetisches Netzwerk &nbsp;<\/h2>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:33.33%\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"1080\" height=\"1080\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2024\/10\/Untitled-10-x-7-cm.png\" alt=\"\" class=\"wp-image-6204\" srcset=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2024\/10\/Untitled-10-x-7-cm.png 1080w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2024\/10\/Untitled-10-x-7-cm-600x600.png 600w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2024\/10\/Untitled-10-x-7-cm-300x300.png 300w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2024\/10\/Untitled-10-x-7-cm-768x768.png 768w\" sizes=\"auto, (max-width: 1080px) 100vw, 1080px\" \/><\/figure>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:66.66%\">\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"height:33px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"wp-block-paragraph\">Der Einsatz der Genomsequenzierung in der klinischen Praxis hat die Diagnoserate bei Patienten mit seltenen Erkrankungen deutlich verbessert. Dennoch bleiben etwa 50% von ihnen ohne Diagnose. Vor kurzem, <strong>genomweite DNA-Methylierung<\/strong> <strong>(DNAm)-Array-Analyse <\/strong>hat es erm\u00f6glicht, zu ermitteln, dass <strong>einzigartige Signaturen<\/strong> (d.\u202fh. <strong>Episignaturen<\/strong>) f\u00fcr eine wachsende Zahl seltener Erkrankungen, wodurch eine Diagnose auch bei Patienten gestellt werden kann, bei denen Gentests keine aussagekr\u00e4ftigen Ergebnisse liefern.&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<p class=\"wp-block-paragraph\">Diese Taskforce hat sich zum Ziel gesetzt, diese neue Technologie zu f\u00f6rdern, indem sie den Aufbau von <strong>EpiEuroNet<\/strong>, ein europ\u00e4isches Netzwerk f\u00fcr DNA-Methylierungsprofilierung, das neue Daten und Instrumente entwickelt, um den Einsatz der DNAm-Analyse in der klinischen Praxis zu erleichtern, damit Diagnosen schneller gestellt werden k\u00f6nnen und eine angemessene Beratung sowie eine personalisierte Versorgung gew\u00e4hrleistet sind.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Diese Arbeitsgruppe unterst\u00fctzt zudem die Entwicklung und Pflege eines<strong> EU-weite Datenbank zu Krankheiten, Genen und Varianten mit DNA-Methylierungsprofilen<\/strong> f\u00fcr Diagnose- und Forschungszwecke.&nbsp;<\/p>\n\n\n\n<div style=\"height:51px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Weitere Initiativen f\u00fcr Patienten ohne Diagnose<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Patienten ohne Diagnose, die bereits mit allen modernen Methoden, einschlie\u00dflich Genomanalysen, untersucht wurden, stellen eine Herausforderung dar. Ziel dieser Aufgabe ist es, eine Zusammenarbeit mit <strong>Einrichtungen, die in der EU und dar\u00fcber hinaus ihre Aktivit\u00e4ten auf Patienten mit unerkannter Diagnose konzentrieren<\/strong>, wie beispielsweise die Wilhelm-Stiftung in D\u00e4nemark, SWAN PAG im Vereinigten K\u00f6nigreich und andere. Insbesondere unterst\u00fctzt das ERN das <a href=\"https:\/\/www.undiagnosedhackathon.org\/home\" target=\"_blank\" rel=\"noreferrer noopener\">Hackathon \u201eUndiagnosed\u201c<\/a>, eine einzigartige Veranstaltung, bei der Teams aus Experten verschiedener Fachrichtungen zusammenkommen, um klinische F\u00e4lle ohne Diagnose zu l\u00f6sen. &nbsp;<\/p>\n\n\n\n<figure class=\"wp-block-image size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"960\" height=\"640\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2024\/10\/Groupphoto-Undiagnosed-Hackathon.jpg\" alt=\"\" class=\"wp-image-6208\" style=\"width:549px;height:auto\" srcset=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2024\/10\/Groupphoto-Undiagnosed-Hackathon.jpg 960w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2024\/10\/Groupphoto-Undiagnosed-Hackathon-600x400.jpg 600w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2024\/10\/Groupphoto-Undiagnosed-Hackathon-768x512.jpg 768w\" sizes=\"auto, (max-width: 960px) 100vw, 960px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><em>Undiagnosed Hackathon 2023 \u2013 Foto der Wilhelm-Stiftung<\/em><\/p>\n\n\n\n<div style=\"height:51px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Forschungspartnerschaften<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Diese Arbeitsgruppe strebt den Aufbau von Partnerschaften mit wichtigen europ\u00e4ischen Akteuren aus dem Forschungsbereich an, wie beispielsweise <a href=\"https:\/\/ern-ithaca.eu\/de\/about-us\/partners\/\">Solve-RD oder IRDRIC<\/a>. &nbsp;<\/p>","protected":false},"excerpt":{"rendered":"<p>Workgroup Chair and co-Chair Pr Marco Tartaglia(Italy) Pr Zeynep T\u00fcmer(Denmark) The objective of workgroup is to provide European research projects with a structured network of clinical services and a networking environment for collaborative research, including all activities targeting the patient who have no diagnosis, despite thorough genetic investigations involving the genome analysis.&nbsp; Support collaborative research [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"parent":6017,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"template-pages\/template-page-generic.php","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-239","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Research &amp; innovation (WG12) - ERN ITHACA<\/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:\/\/ern-ithaca.eu\/de\/our-workgroups\/research-innovation\/\" \/>\n<meta property=\"og:locale\" content=\"de_DE\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Research &amp; innovation (WG12) - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"Workgroup Chair and co-Chair Pr Marco Tartaglia(Italy) Pr Zeynep T\u00fcmer(Denmark) The objective of workgroup is to provide European research projects with a structured network of clinical services and a networking environment for collaborative research, including all activities targeting the patient who have no diagnosis, despite thorough genetic investigations involving the genome analysis.&nbsp; 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