{"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\/fr\/our-workgroups\/research-innovation\/","title":{"rendered":"Recherche et innovation (GT12)"},"content":{"rendered":"<h2 class=\"wp-block-heading\" id=\"taskforce-leads\">Pr\u00e9sident et copr\u00e9sident du groupe de travail <\/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>(Italie)<\/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>Professeure Zeynep T\u00fcmer<br><\/strong><\/strong>(Danemark)<\/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>L'objectif de ce groupe de travail est de mettre \u00e0 la disposition des projets de recherche europ\u00e9ens un r\u00e9seau structur\u00e9 de services cliniques et un environnement propice \u00e0 la recherche collaborative, englobant toutes les activit\u00e9s destin\u00e9es aux patients pour lesquels aucun diagnostic n'a pu \u00eatre \u00e9tabli, malgr\u00e9 des examens g\u00e9n\u00e9tiques approfondis comprenant une analyse du g\u00e9nome.&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\">Soutenir la recherche collaborative &nbsp;<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Afin de favoriser la collaboration entre les chercheurs, ce groupe de travail a mis en place une plateforme virtuelle destin\u00e9e \u00e0 <a href=\"https:\/\/ern-ithaca.eu\/fr\/for-clinicians\/calls-for-collaboration\/\">appelle \u00e0 une collaboration en mati\u00e8re de recherche clinique<\/a>. L'objectif de ces appels \u00e0 projets est d'aider <strong>les cliniciens ou les chercheurs qui \u00e9tudient un m\u00eame g\u00e8ne ou une m\u00eame maladie, afin qu'ils puissent entrer en contact et mettre en commun leurs donn\u00e9es. <\/strong>Ces collaborations ont pour objectif de permettre la constitution rapide de s\u00e9ries cliniques coh\u00e9rentes portant sur des maladies monog\u00e9niques rares, ce qui devrait contribuer \u00e0 mieux cerner le spectre clinique et l'\u00e9volution naturelle d'entit\u00e9s r\u00e9cemment identifi\u00e9es dans le domaine du g\u00e8ne ITHACA.&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>Exemples de deux appels \u00e0 collaboration publi\u00e9s sur notre plateforme<\/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\">Le groupe de travail organise \u00e9galement un <strong>Atelier annuel de recherche<\/strong> afin d'offrir aux membres de l'ERN une nouvelle plateforme leur permettant de pr\u00e9senter et de discuter de leurs projets de recherche collaboratifs. Cet \u00e9v\u00e9nement a lieu chaque ann\u00e9e en d\u00e9cembre, \u00e0 la suite de la r\u00e9union du conseil d'administration de ERN-ITHACA. Cette initiative a pour objectif d'encourager la collaboration ainsi que le partage des connaissances et de l'expertise au sein de la communaut\u00e9 ERN-ITHACA, et de faciliter le d\u00e9veloppement de nouveaux projets de recherche.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Les membres de notre groupe de travail travaillent \u00e9galement \u00e0 l'\u00e9laboration d'un nouveau <strong>base de donn\u00e9es de mise en relation<\/strong> qui comprendra des appels \u00e0 projets sp\u00e9cifiques ainsi qu'une liste de laboratoires indiquant leurs domaines d'expertise, leurs outils, leurs plateformes et les mod\u00e8les de maladies qu'ils utilisent, et qui sont ouverts \u00e0 la collaboration. Un nouvel atelier ITHACA consacr\u00e9 \u00e0 ce projet est \u00e9galement en cours d'\u00e9laboration. &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\">R\u00e9seau \u00e9pig\u00e9n\u00e9tique &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\">Le recours au s\u00e9quen\u00e7age g\u00e9nomique dans la pratique clinique a consid\u00e9rablement am\u00e9lior\u00e9 le taux de diagnostic chez les patients atteints de maladies rares. N\u00e9anmoins, environ 50% d'entre eux ne b\u00e9n\u00e9ficient toujours pas d'un diagnostic. R\u00e9cemment, <strong>m\u00e9thylation de l'ADN \u00e0 l'\u00e9chelle du g\u00e9nome<\/strong> <strong>Analyse par puce (DNAm) <\/strong>a permis d'identifier <strong>signatures uniques<\/strong> (c'est-\u00e0-dire. <strong>\u00e9pigraphes<\/strong>) pour un nombre croissant de maladies rares, ce qui permet d'\u00e9tablir un diagnostic chez les patients pour lesquels les tests g\u00e9n\u00e9tiques ne sont pas concluants.&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<p class=\"wp-block-paragraph\">Ce groupe de travail a pour objectif de promouvoir cette nouvelle technologie en soutenant la mise en place de <strong>EpiEuroNet<\/strong>, un r\u00e9seau europ\u00e9en d\u00e9di\u00e9 au profilage de la m\u00e9thylation de l'ADN qui g\u00e9n\u00e8re de nouvelles donn\u00e9es et d\u00e9veloppe des outils facilitant l'utilisation de l'analyse de la m\u00e9thylation de l'ADN dans la pratique clinique afin d'acc\u00e9l\u00e9rer le diagnostic et d'offrir un accompagnement adapt\u00e9 ainsi que des soins personnalis\u00e9s.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Ce groupe de travail contribue \u00e9galement \u00e0 l'\u00e9laboration et \u00e0 la mise \u00e0 jour d'un<strong> Base de donn\u00e9es europ\u00e9enne sur les maladies, les g\u00e8nes et les variants, consacr\u00e9e aux profils de m\u00e9thylation de l'ADN<\/strong> pour des applications diagnostiques et de recherche.&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\">Autres initiatives destin\u00e9es aux patients non diagnostiqu\u00e9s<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Les patients non diagnostiqu\u00e9s qui ont fait l'objet de toutes les analyses disponibles \u00e0 ce jour, y compris le s\u00e9quen\u00e7age du g\u00e9nome, constituent un v\u00e9ritable d\u00e9fi. L'objectif de cette mission est de favoriser une collaboration avec <strong>des structures qui, au sein de l'UE et au-del\u00e0, concentrent leurs activit\u00e9s sur les patients non diagnostiqu\u00e9s<\/strong>, telles que la Fondation Wilhelm au Danemark, SWAN PAG au Royaume-Uni et d\u2019autres. L\u2019ERN soutient notamment le <a href=\"https:\/\/www.undiagnosedhackathon.org\/home\" target=\"_blank\" rel=\"noreferrer noopener\">Hackathon \u00ab Undiagnosed \u00bb<\/a>, un \u00e9v\u00e9nement unique en son genre qui rassemble des \u00e9quipes d'experts pluridisciplinaires afin de r\u00e9soudre des cas cliniques non diagnostiqu\u00e9s. &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>Hackathon \u00ab Undiagnosed \u00bb 2023 \u2013 photo de la Fondation Wilhelm<\/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\">Partenariats de recherche<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Ce groupe de travail vise \u00e0 \u00e9tablir des partenariats avec des acteurs cl\u00e9s de la recherche europ\u00e9enne, tels que <a href=\"https:\/\/ern-ithaca.eu\/fr\/about-us\/partners\/\">Solve-RD ou 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 v28.7 - 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\/fr\/our-workgroups\/research-innovation\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\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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