{"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\/es\/our-workgroups\/research-innovation\/","title":{"rendered":"Investigaci\u00f3n e innovaci\u00f3n (WG12)"},"content":{"rendered":"<h2 class=\"wp-block-heading\" id=\"taskforce-leads\">Presidente y copresidente del grupo de trabajo <\/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>(Italia)<\/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>(Dinamarca)<\/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>El objetivo del grupo de trabajo es proporcionar a los proyectos de investigaci\u00f3n europeos una red estructurada de servicios cl\u00ednicos y un entorno de colaboraci\u00f3n para la investigaci\u00f3n conjunta, incluyendo todas las actividades dirigidas a los pacientes que no han recibido un diagn\u00f3stico, a pesar de haberse sometido a exhaustivos estudios gen\u00e9ticos que incluyen el an\u00e1lisis del genoma.&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\">Apoyar la investigaci\u00f3n colaborativa &nbsp;<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Con el fin de fomentar la colaboraci\u00f3n entre investigadores, este grupo de trabajo ha creado una plataforma virtual para <a href=\"https:\/\/ern-ithaca.eu\/es\/for-clinicians\/calls-for-collaboration\/\">hace un llamamiento a la colaboraci\u00f3n en materia de investigaci\u00f3n cl\u00ednica<\/a>. El objetivo de estas convocatorias es ayudar a <strong>que los profesionales cl\u00ednicos o investigadores que estudien un mismo gen o trastorno se pongan en contacto y pongan en com\u00fan sus datos. <\/strong>El objetivo de estas colaboraciones es lograr la creaci\u00f3n r\u00e1pida de series cl\u00ednicas coherentes sobre trastornos monog\u00e9nicos raros, lo que deber\u00eda contribuir a definir mejor el espectro cl\u00ednico y la historia natural de las entidades recientemente identificadas en el \u00e1mbito de 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>Ejemplos de dos convocatorias de colaboraci\u00f3n de nuestra plataforma<\/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\">El grupo de trabajo tambi\u00e9n organiza un <strong>Taller anual de investigaci\u00f3n<\/strong> ofrecer una nueva plataforma para que los miembros de la ERN presenten y debatan sus proyectos de investigaci\u00f3n colaborativos. Este evento se celebra en diciembre de cada a\u00f1o, tras la reuni\u00f3n de la Junta Directiva de ERN-ITHACA. El objetivo de esta iniciativa es fomentar la colaboraci\u00f3n y el intercambio de conocimientos y experiencia entre toda la comunidad de ERN-ITHACA, as\u00ed como facilitar el desarrollo de nuevos proyectos de investigaci\u00f3n.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Los miembros de nuestro grupo de trabajo tambi\u00e9n est\u00e1n desarrollando un nuevo <strong>base de datos de b\u00fasqueda de pareja<\/strong> que incluir\u00e1 convocatorias para proyectos espec\u00edficos y una lista de laboratorios con sus \u00e1reas de especializaci\u00f3n, herramientas, plataformas y modelos de enfermedades que utilizan, y que est\u00e1n abiertos a la colaboraci\u00f3n. Tambi\u00e9n se est\u00e1 preparando un nuevo taller ITHACA dedicado a este proyecto. &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\">Red epigen\u00e9tica &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\">El uso de la secuenciaci\u00f3n gen\u00f3mica en la pr\u00e1ctica cl\u00ednica ha mejorado significativamente la tasa de diagn\u00f3stico en pacientes con enfermedades raras. No obstante, alrededor de 50% de ellos siguen sin diagn\u00f3stico. Recientemente, <strong>metilaci\u00f3n del ADN a nivel gen\u00f3mico<\/strong> <strong>An\u00e1lisis de matrices (DNAm) <\/strong>ha permitido identificar <strong>firmas \u00fanicas<\/strong> (es decir,. <strong>episignaturas<\/strong>) para un n\u00famero cada vez mayor de enfermedades raras, lo que permite llegar a un diagn\u00f3stico en pacientes en los que las pruebas gen\u00e9ticas no resultan concluyentes.&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<p class=\"wp-block-paragraph\">Este grupo de trabajo tiene como objetivo promover esta nueva tecnolog\u00eda apoyando la creaci\u00f3n de <strong>EpiEuroNet<\/strong>, una red europea dedicada a la elaboraci\u00f3n de perfiles de metilaci\u00f3n del ADN que genera nuevos datos y herramientas que facilitan el uso del an\u00e1lisis de la metilaci\u00f3n del ADN en la pr\u00e1ctica cl\u00ednica para agilizar el diagn\u00f3stico y ofrecer un asesoramiento adecuado y una atenci\u00f3n personalizada.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Este grupo de trabajo tambi\u00e9n colabora en el desarrollo y mantenimiento de un<strong> Base de datos de la UE sobre enfermedades, genes y variantes, con perfiles de metilaci\u00f3n del ADN<\/strong> para aplicaciones de diagn\u00f3stico e investigaci\u00f3n.&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\">Otras iniciativas para pacientes sin diagnosticar<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Los pacientes sin diagnosticar a los que se les han realizado todos los an\u00e1lisis disponibles en la actualidad, incluido el gen\u00f3mico, suponen un reto. El objetivo de esta tarea es fomentar la colaboraci\u00f3n con <strong>estructuras que, tanto en la UE como fuera de ella, centran sus actividades en los pacientes sin diagnosticar<\/strong>, como la Fundaci\u00f3n Wilhelm en Dinamarca, SWAN PAG en el Reino Unido y otras. En concreto, la ERN est\u00e1 prestando apoyo a la <a href=\"https:\/\/www.undiagnosedhackathon.org\/home\" target=\"_blank\" rel=\"noreferrer noopener\">Hackat\u00f3n \u00abSin diagnosticar\u00bb<\/a>, un evento \u00fanico que re\u00fane a equipos de expertos multidisciplinares para resolver casos cl\u00ednicos sin diagnosticar. &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 \u00abUndiagnosed\u00bb 2023 \u2013 foto de la Fundaci\u00f3n 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\">Colaboraciones en investigaci\u00f3n<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Este grupo de trabajo tiene como objetivo establecer colaboraciones con los principales actores europeos del \u00e1mbito de la investigaci\u00f3n, tales como <a href=\"https:\/\/ern-ithaca.eu\/es\/about-us\/partners\/\">Solve-RD o 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\/es\/our-workgroups\/research-innovation\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\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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