{"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\/it\/our-workgroups\/registries\/","title":{"rendered":"Registri (WG7)"},"content":{"rendered":"<h2 class=\"wp-block-heading\" id=\"taskforce-lead\">Presidente del gruppo di lavoro <\/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.ssa 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\">Obiettivi principali<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">L'obiettivo principale di questo WP \u00e8 <strong>istituire un registro interoperabile dedicato alle malattie rare nell\u2019ambito del programma ITHACA, denominato \u201cILIAD \u2013 Registro dei pazienti affetti da malattie rare\u201d<\/strong>: un\u00a0<strong>I<\/strong>internazionale\u00a0<strong>L<\/strong>Biblioteca di\u00a0<strong>I<\/strong>disabilit\u00e0 intellettiva e\u00a0<strong>A<\/strong>anomalie di\u00a0<strong>D<\/strong>Sviluppo.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Intendiamo sviluppare un unico \u201cmeta-registro\u201d trans-ERN (ILIAD) di pazienti con anomalie dello sviluppo (sindromi dismorfiche\/di anomalie congenite multiple e\/o disabilit\u00e0 intellettive) reclutati dall\u2019ERN ITHACA, pazienti affetti da diversi disturbi dello sviluppo che interessano la testa reclutati dall\u2019ERN-CRANIO e pazienti affetti da disturbi del tessuto connettivo reclutati dall\u2019ERN SKIN.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">ILIAD registrer\u00e0 3 tipologie di pazienti:<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>pazienti con diagnosi genetica (per essere registrati, i pazienti devono avere una diagnosi genetica\/genomica),<\/li><li>pazienti con diagnosi clinica definita (i pazienti devono avere una diagnosi clinica precisa con un codice ORPHA relativo alla malattia),<\/li><li>e i pazienti a cui non \u00e8 stata fatta una diagnosi<\/li><\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Il meta-registro che proponiamo di istituire fornir\u00e0 una struttura unificante in cui potranno essere registrati e classificati pazienti affetti da una gamma molto ampia di malattie dello sviluppo poco conosciute ed eccezionali dal punto di vista individuale, garantendo e migliorando cos\u00ec l\u2019accesso a questi pazienti e a queste coorti da parte di ricercatori, operatori sanitari e responsabili politici. Le suddette difficolt\u00e0 nella classificazione di questi pazienti e delle relative sindromi saranno superate definendo un set di dati minimo ed essenziale incentrato sulla loro eziopatogenesi e comprendente descrittori genetici, al fine di realizzare un registro di primo livello, seguito da set di dati pi\u00f9 dettagliati per sindromi specifiche o tipi di anomalie. Per favorire la reperibilit\u00e0 e l\u2019interoperabilit\u00e0 del registro ILIAD, quest\u2019ultimo sar\u00e0 collegato all\u2019Infrastruttura europea dei registri delle malattie rare.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Il registro ILIAD deve affrontare due principali limitazioni:<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>In primo luogo, ITHACA \u00e8 tra le ERN che coprono il maggior numero e la pi\u00f9 ampia variet\u00e0 di malattie ereditarie. Anche laddove tali malattie siano chiaramente definite, alcune sono state identificate solo in una manciata di pazienti in tutta Europa, o addirittura nel mondo. La struttura delle ERN, riunendo operatori sanitari specializzati in queste malattie provenienti da un gran numero di paesi, migliora la corretta identificazione e la descrizione genotipica e fenotipica di questi disturbi, e quindi il registro dei relativi pazienti.<\/li><li>In secondo luogo, data la diversit\u00e0 delle manifestazioni cliniche coinvolte, qualsiasi database comune dedicato alla ITHACA dovr\u00e0 ovviamente essere limitato in termini di campi di dati coperti. Tuttavia, poich\u00e9 i campi si concentreranno sull\u2019eziopatogenesi, il registro sar\u00e0 facilmente condivisibile o trasferibile ad altre malattie genetiche multiple caratterizzate da ampia eterogeneit\u00e0. La cooperazione tra diverse Reti Europee di Eccellenza (ERN) ha contribuito in modo significativo allo sviluppo di questo progetto e garantir\u00e0 che il registro risultante o la struttura sottostante siano pienamente valorizzati. Tra le ERN che potrebbero condividere o contribuire al registro figurano quelle che si occupano di altre malattie genetiche, anomalie dello sviluppo o malformazioni, oppure sindromi multisistemiche che sfuggono a una classificazione.<\/li><\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Il registro sar\u00e0 sviluppato grazie a una sovvenzione specifica concessa dall\u2019Agenzia esecutiva per i consumatori, la salute, l\u2019agricoltura e l\u2019alimentazione (CHAFEA), un\u2019agenzia dell\u2019Unione europea. L\u2019infrastruttura informatica sar\u00e0 sviluppata dal prof. Morris Swertz presso il Groningen Genomics Coordination Center (GCC), una struttura centrale di bioinformatica e centro di gestione dei big data condivisa dal Centro medico universitario e dall\u2019Universit\u00e0 di Groninga (Paesi Bassi).<\/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 Contatto PM<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Klea Vyshka<br><\/strong>E-mail: <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\/it\/our-workgroups\/registries\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\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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