{"id":235,"date":"2022-02-07T15:03:54","date_gmt":"2022-02-07T14:03:54","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?page_id=235"},"modified":"2024-10-24T15:40:41","modified_gmt":"2024-10-24T13:40:41","slug":"registries","status":"publish","type":"page","link":"https:\/\/ern-ithaca.eu\/es\/our-workgroups\/registries\/","title":{"rendered":"Registros (WG7)"},"content":{"rendered":"<h2 class=\"wp-block-heading\" id=\"taskforce-lead\">Presidente 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=\"225\" height=\"298\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Pr-Alessandra-Renieri.jpeg\" alt=\"\" class=\"wp-image-236\"\/><\/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:85%\">\n<p class=\"wp-block-paragraph\"><strong>Prof. Alessandra Renieri<\/strong><br>(Siena, Italia)<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"key-objectives\">Objetivos clave<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">El objetivo principal de este paquete de trabajo es <strong>crear un registro interoperable dedicado a las enfermedades raras en el marco del programa ITHACA, denominado \u00abRegistro de pacientes con enfermedades raras ILIAD\u00bb<\/strong>: un\u00a0<strong>I<\/strong>Internacional\u00a0<strong>L<\/strong>Biblioteca de\u00a0<strong>I<\/strong>discapacidad intelectual y\u00a0<strong>A<\/strong>anomal\u00edas de\u00a0<strong>D<\/strong>Desarrollo.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Tenemos la intenci\u00f3n de desarrollar un \u201cmetarregistro\u201d \u00fanico y trans-ERN (ILIAD) de pacientes con anomal\u00edas del desarrollo (s\u00edndromes dism\u00f3rficos o de anomal\u00edas cong\u00e9nitas m\u00faltiples y\/o discapacidad intelectual) seleccionados por la ERN ITHACA, pacientes con diversos trastornos del desarrollo que afectan a la cabeza reclutados por la ERN-CRANIO, y pacientes con trastornos del tejido conjuntivo reclutados por la ERN SKIN.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">El estudio ILIAD incluir\u00e1 a tres tipos de pacientes:<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>pacientes con diagn\u00f3stico gen\u00e9tico (para que se les incluya en el registro, los pacientes deben tener un diagn\u00f3stico gen\u00e9tico o gen\u00f3mico),<\/li><li>pacientes con un diagn\u00f3stico cl\u00ednico definido (los pacientes deben tener un diagn\u00f3stico cl\u00ednico preciso con un c\u00f3digo ORPHA correspondiente a la enfermedad),<\/li><li>y los pacientes sin diagnosticar<\/li><\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">El metarregistro que proponemos crear proporcionar\u00e1 una estructura unificadora en la que se pueda registrar y clasificar a pacientes con una amplia variedad de enfermedades del desarrollo poco conocidas y excepcionalmente singulares en cada caso, lo que facilitar\u00e1 y mejorar\u00e1 el acceso a estos pacientes y cohortes para investigadores, profesionales sanitarios y responsables pol\u00edticos. Las dificultades mencionadas anteriormente a la hora de clasificar a estos pacientes y s\u00edndromes se superar\u00e1n mediante la definici\u00f3n de un conjunto de datos m\u00ednimo y muy b\u00e1sico, centrado en su etiopatogenia e incluyendo descriptores gen\u00e9ticos, con el fin de lograr un registro de primer orden, al que seguir\u00e1n conjuntos de datos m\u00e1s detallados para s\u00edndromes espec\u00edficos o tipos de anomal\u00edas. Para facilitar la localizaci\u00f3n y la interoperabilidad del registro ILIAD, este se conectar\u00e1 a la Infraestructura Europea de Registros de Enfermedades Raras.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">El registro ILIAD se enfrenta a dos limitaciones importantes:<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>En primer lugar, la ITHACA figura entre las RER que abarcan el mayor n\u00famero y variedad de enfermedades hereditarias. Incluso cuando estas enfermedades est\u00e1n claramente definidas, algunas solo se han identificado en un pu\u00f1ado de pacientes en toda Europa, o incluso en todo el mundo. La estructura de las ERN, al reunir a profesionales sanitarios especializados en estas enfermedades procedentes de un gran n\u00famero de pa\u00edses, mejora la identificaci\u00f3n correcta y la descripci\u00f3n genot\u00edpica y fenot\u00edpica de estos trastornos y, por lo tanto, el registro de sus pacientes.<\/li><li>En segundo lugar, dada la diversidad de manifestaciones cl\u00ednicas implicadas, es obvio que cualquier base de datos com\u00fan sobre ITHACA deber\u00e1 tener limitaciones en cuanto a los campos de datos que abarque. Sin embargo, dado que los campos se centrar\u00e1n en la etiopatogenia, el registro podr\u00e1 compartirse o transferirse f\u00e1cilmente a otras enfermedades gen\u00e9ticas m\u00faltiples con una amplia heterogeneidad. La cooperaci\u00f3n entre varias RER ha contribuido en gran medida al desarrollo de este proyecto y garantizar\u00e1 que el registro resultante o la estructura subyacente se aprovechen al m\u00e1ximo. Entre las RER que podr\u00edan compartir o contribuir al registro se encuentran aquellas que se ocupan de otros trastornos gen\u00e9ticos, anomal\u00edas del desarrollo o malformaciones, o s\u00edndromes multisist\u00e9micos que se resisten a la clasificaci\u00f3n.<\/li><\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">El registro se desarrollar\u00e1 gracias a una subvenci\u00f3n espec\u00edfica de la Agencia Ejecutiva de Consumo, Salud, Agricultura y Alimentaci\u00f3n (CHAFEA) de la UE. La infraestructura inform\u00e1tica correr\u00e1 a cargo del profesor Morris Swertz, en el Centro de Coordinaci\u00f3n Gen\u00f3mica de Groninga (GCC), un centro de bioinform\u00e1tica y de gesti\u00f3n de macrodatos compartido por el Centro M\u00e9dico Universitario y la Universidad de Groninga (Pa\u00edses Bajos).<\/p>\n\n\n\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"ithaca-pm-contact\">ITHACA Contacto PM<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Klea Vyshka<br><\/strong>Correo electr\u00f3nico: <a href=\"mailto:klea.vyshka@aphp.fr\">klea.vyshka@aphp.fr<\/a><\/p>","protected":false},"excerpt":{"rendered":"<p>Workgroup Chair Pr Alessandra Renieri(Siena, Italy) Key Objectives The main objective of this WP is to set up an interoperable registry dedicated to rare diseases within the scope of ITHACA called ILIAD Rare Diseases patient registry: an\u00a0International\u00a0Library of\u00a0Intellectual disability and\u00a0Anomalies of\u00a0Development . We intend to develop a single, trans-ERN \u201cmeta-registry\u201d (ILIAD) of patients with developmental [&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-235","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>Registries (WG7) - 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\/registries\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Registries (WG7) - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"Workgroup Chair Pr Alessandra Renieri(Siena, Italy) Key Objectives The main objective of this WP is to set up an interoperable registry dedicated to rare diseases within the scope of ITHACA called ILIAD Rare Diseases patient registry: an\u00a0International\u00a0Library of\u00a0Intellectual disability and\u00a0Anomalies of\u00a0Development . 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