{"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\/fr\/our-workgroups\/registries\/","title":{"rendered":"Registres (WG7)"},"content":{"rendered":"<h2 class=\"wp-block-heading\" id=\"taskforce-lead\">Pr\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=\"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>Professeure Alessandra Renieri<\/strong><br>(Sienne, Italie)<\/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\">Objectifs cl\u00e9s<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">L'objectif principal de ce WP est <strong>mettre en place un registre interop\u00e9rable d\u00e9di\u00e9 aux maladies rares dans le cadre du programme ITHACA, d\u00e9nomm\u00e9 \u00ab Registre des patients atteints de maladies rares ILIAD \u00bb<\/strong>: un\u00a0<strong>I<\/strong>international\u00a0<strong>L<\/strong>Biblioth\u00e8que de\u00a0<strong>I<\/strong>d\u00e9ficience intellectuelle et\u00a0<strong>A<\/strong>anomalies de\u00a0<strong>D<\/strong>d\u00e9veloppement.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Nous avons l\u2019intention de mettre en place un \u201c m\u00e9ta-registre \u201d unique et trans-ERN (ILIAD) regroupant les patients pr\u00e9sentant des anomalies du d\u00e9veloppement (syndromes dysmorphiques\/anomalies cong\u00e9nitales multiples et\/ou d\u00e9ficiences intellectuelles) recrut\u00e9s par l\u2019ERN ITHACA, des patients atteints de plusieurs troubles du d\u00e9veloppement touchant la t\u00eate recrut\u00e9s par l\u2019ERN-CRANIO, ainsi que des patients atteints de troubles du tissu conjonctif recrut\u00e9s par l\u2019ERN SKIN.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">L'\u00e9tude ILIAD recrutera trois types de patients :<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>patients dont le profil g\u00e9n\u00e9tique a \u00e9t\u00e9 \u00e9tabli (les patients doivent avoir fait l'objet d'un diagnostic g\u00e9n\u00e9tique ou g\u00e9nomique pour \u00eatre pris en compte),<\/li><li>les patients r\u00e9pondant \u00e0 des crit\u00e8res cliniques (les patients doivent pr\u00e9senter un diagnostic clinique pr\u00e9cis associ\u00e9 \u00e0 un code ORPHA correspondant \u00e0 la maladie),<\/li><li>et les patients non diagnostiqu\u00e9s<\/li><\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Le m\u00e9ta-registre que nous proposons de mettre en place offrira une structure unificatrice permettant d\u2019enregistrer et de classer les patients atteints d\u2019un tr\u00e8s large \u00e9ventail de maladies du d\u00e9veloppement peu connues et exceptionnelles au cas par cas, facilitant et am\u00e9liorant ainsi l\u2019acc\u00e8s \u00e0 ces patients et \u00e0 ces cohortes pour les chercheurs, les professionnels de sant\u00e9 et les d\u00e9cideurs politiques. Les difficult\u00e9s susmentionn\u00e9es li\u00e9es \u00e0 la classification de ces patients et de ces syndromes seront surmont\u00e9es en d\u00e9finissant un ensemble de donn\u00e9es minimal tr\u00e8s basique, ax\u00e9 sur leur \u00e9tiopathog\u00e9nie et comprenant des descripteurs g\u00e9n\u00e9tiques, afin de constituer un registre de premier ordre, qui sera ensuite compl\u00e9t\u00e9 par des ensembles de donn\u00e9es plus d\u00e9taill\u00e9s pour des syndromes ou des types d\u2019anomalies sp\u00e9cifiques. Afin de favoriser la facilit\u00e9 de recherche et l\u2019interop\u00e9rabilit\u00e9 du registre ILIAD, celui-ci sera reli\u00e9 \u00e0 l\u2019infrastructure europ\u00e9enne des registres des maladies rares.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Le registre ILIAD est confront\u00e9 \u00e0 deux contraintes majeures :<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>Tout d\u2019abord, le r\u00e9seau ITHACA figure parmi les ERN qui couvrent le plus grand nombre et la plus grande diversit\u00e9 de maladies h\u00e9r\u00e9ditaires. M\u00eame lorsque ces maladies sont clairement d\u00e9finies, certaines n\u2019ont \u00e9t\u00e9 identifi\u00e9es que chez une poign\u00e9e de patients en Europe, voire dans le monde entier. La structure des ERN, en r\u00e9unissant des professionnels de sant\u00e9 sp\u00e9cialis\u00e9s dans ces maladies et issus d\u2019un grand nombre de pays, am\u00e9liore l\u2019identification correcte ainsi que la description g\u00e9notypique et ph\u00e9notypique de ces troubles, et donc le r\u00e9pertoire de leurs patients.<\/li><li>D\u2019autre part, en raison de la diversit\u00e9 des manifestations cliniques concern\u00e9es, toute base de donn\u00e9es commune sur le syndrome ITHACA devra \u00e9videmment \u00eatre limit\u00e9e quant aux champs de donn\u00e9es couverts. Toutefois, comme ces champs porteront principalement sur l\u2019\u00e9tiopathog\u00e9nie, le registre pourra facilement \u00eatre partag\u00e9 ou transpos\u00e9 \u00e0 d\u2019autres maladies g\u00e9n\u00e9tiques multiples pr\u00e9sentant une grande h\u00e9t\u00e9rog\u00e9n\u00e9it\u00e9. La coop\u00e9ration entre plusieurs R\u00e9seaux europ\u00e9ens d\u2019excellence (ERN) a grandement contribu\u00e9 au d\u00e9veloppement de ce projet et garantira que le registre qui en r\u00e9sultera, ou la structure sous-jacente, sera pleinement exploit\u00e9. Parmi les ERN susceptibles de partager ou de contribuer au registre figurent ceux qui traitent d\u2019autres maladies g\u00e9n\u00e9tiques, d\u2019anomalies du d\u00e9veloppement ou de malformations, ou encore de syndromes multisyst\u00e9miques qui \u00e9chappent \u00e0 toute classification.<\/li><\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Ce registre sera d\u00e9velopp\u00e9 gr\u00e2ce \u00e0 une subvention sp\u00e9cifique accord\u00e9e par l'Agence ex\u00e9cutive \u00ab Consommateurs, sant\u00e9, agriculture et alimentation \u00bb (CHAFEA) de l'Union europ\u00e9enne. L'infrastructure informatique sera mise en place par le professeur Morris Swertz, au Centre de coordination en g\u00e9nomique de Groningue (GCC), une plateforme centrale de bioinformatique et un centre de gestion des m\u00e9gadonn\u00e9es g\u00e9r\u00e9 conjointement par le Centre m\u00e9dical universitaire et l'Universit\u00e9 de Groningue (Pays-Bas).<\/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 Contact 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 v28.7 - 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\/fr\/our-workgroups\/registries\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\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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