{"id":384,"date":"2022-02-08T12:44:38","date_gmt":"2022-02-08T11:44:38","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&#038;p=384"},"modified":"2025-02-26T11:44:56","modified_gmt":"2025-02-26T10:44:56","slug":"ern-ithaca-lille-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/it\/about-us\/expert-centers\/ern-ithaca-lille-center\/","title":{"rendered":"ERN-ITHACA \u2013 Centro di Lille"},"content":{"rendered":"<figure class=\"wp-block-image size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"191\" height=\"156\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/image003-1.jpg\" alt=\"\" class=\"wp-image-7200\" style=\"aspect-ratio:1;width:357px;height:auto\"\/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Clinica di genetica Guy Fontaine<\/strong><br>Centri di riferimento per le malattie rare:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Anomalie nello sviluppo della regione nord-occidentale<\/li>\n\n\n\n<li>Anomalie dello sviluppo della regione Ile-de-France \u2013 anomalie degli arti<\/li>\n\n\n\n<li>Disabilit\u00e0 intellettive di origine rara<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Clinica di Neuropediatria<\/strong><br>Centri di riferimento per le malattie rare \u2013 Malformazioni e malattie congenite del cervelletto&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Ospedale Calmette, edificio Paul Boulanger<br>Viale del professor Jules Leclercq<br>59037 Lille Cedex, Francia<\/p>\n\n\n\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.chu-lille.fr\/\">Sito web<\/a><\/div>\n<\/div>\n\n\n\n<div style=\"height:56px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"lead\">Piombo<\/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-vertically-aligned-center 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=\"530\" height=\"733\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Dr-Florence-PETIT.jpeg\" alt=\"\" class=\"wp-image-386\" srcset=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Dr-Florence-PETIT.jpeg 530w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Dr-Florence-PETIT-434x600.jpeg 434w\" sizes=\"auto, (max-width: 530px) 100vw, 530px\" \/><\/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 Florence Petit<\/strong> (Clinica di Genetica Guy Fontaine)<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Telefono<\/strong>: +33 (0)3 20 44 49 11<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Fax<\/strong>: +33 (0)3 20 44 49 01<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Posta<\/strong>:&nbsp;<a href=\"mailto:clad@chru-lille.fr\">clinique.genetique@chu-lille.fr<\/a><\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:56px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"scope\">Ambito di applicazione<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">L\u2019area di competenza del Centro di Lille della Rete di Riferimento Europea (ERN) ITHACA copre tutte le sindromi caratterizzate da anomalie dello sviluppo e\/o disabilit\u00e0 intellettiva (DI). Circa 1 neonato su 40 presenta una malformazione congenita (261 su 10.000 feti e neonati secondo i rapporti EuroCAt), e 1 su 40 presenta una disabilit\u00e0 intellettiva. Pertanto, da 3 a 5 % di tutte le nascite umane presentano o svilupperanno un\u2019anomalia dello sviluppo, tra cui almeno 25-50% sono di origine genetica o genomica. Questa vasta popolazione rappresenta in realt\u00e0 l\u2019insieme di un numero molto elevato di malattie rare a livello individuale, caratterizzate da un\u2019estrema diversit\u00e0 di cause e fenotipi. L\u2019ambito di competenza del Centro di Lille ITHACA comprende:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Oltre 5.500 sindromi dismorfiche e di anomalie congenite multiple (MCA) (elencate nel London Dysmorphology Database), tra cui oltre 3.000 malattie monogeniche, tutte le anomalie cromosomiche (la maggior parte delle quali rilevabili solo tramite tecnologie di array), anomalie dismorfologiche multifattoriali e sporadiche ed embriopatie di origine ambientale<\/li>\n\n\n\n<li>Oltre 1.500 forme monogeniche e centinaia di forme cromosomiche di disabilit\u00e0 intellettiva, con o senza disturbo dello spettro autistico (ASD).<\/li>\n<\/ul>\n\n\n\n<div style=\"height:56px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"service-to-patients\">Assistenza ai pazienti<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Il Centro contribuisce all\u2019assistenza dei pazienti offrendo diagnosi cliniche, test genetici, screening familiari, consulenza genetica, valutazioni neuropsicologiche e neuropsichiatriche, diagnosi prenatale, monitoraggio e coordinamento dell\u2019assistenza diurna e della rieducazione dei pazienti, nonch\u00e9 studi terapeutici nel campo delle anomalie dello sviluppo, in collaborazione con due reti sanitarie nazionali (AnDDI-Rares e DefiScience).<\/p>\n\n\n\n<div style=\"height:56px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"organization-of-the-ithaca-ern-lille-centre\">Organizzazione della rete ERN ITHACA \u2013 Centro di Lille<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">L\u2019Ospedale Universitario di Lille (CHU di Lille) fornisce assistenza sanitaria a oltre 4,2 milioni di abitanti. Situato in un unico campus, \u00e8 uno dei pi\u00f9 grandi ospedali universitari della Francia (oltre 3.000 posti letto) e vanta uno dei reparti di maternit\u00e0 pi\u00f9 grandi del Paese (oltre 5.500 nascite all\u2019anno) e uno dei reparti pediatrici pi\u00f9 grandi (oltre 210 posti letto pediatrici). Il CHU di Lille offre una copertura completa delle cure generali e specialistiche, in particolare:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Un reparto di genetica clinica che offre consulenze genetiche e assistenza coordinata di tipo medico, paramedico, psicologico e sociale a bambini, adulti e donne in gravidanza affetti da anomalie dello sviluppo (con o senza disabilit\u00e0 intellettiva) e alle loro famiglie. Questo reparto fa parte di un ampio polo di biopatologia che comprende laboratori di genetica, patologia fetale e di altro tipo.<\/li>\n\n\n\n<li>Un ospedale pediatrico che comprende diversi reparti, tra cui quelli di neurologia infantile (che offre servizi diagnostici e assistenziali multidisciplinari per bambini con disabilit\u00e0 intellettiva e disturbi dello spettro autistico), endocrinologia infantile, disturbi metabolici infantili, cardiologia pediatrica, nefrologia infantile, chirurgia pediatrica\u2026<\/li>\n\n\n\n<li>Un reparto di psichiatria infantile che offre servizi di diagnosi e assistenza multidisciplinari per bambini affetti da disturbi dello spettro autistico (ASD).<\/li>\n\n\n\n<li>Strutture di diagnosi prenatale e uno dei due centri regionali per la diagnosi prenatale<\/li>\n\n\n\n<li>Assistenza tecnica completa, che comprende laboratori medici tradizionali, diagnostica per immagini, analisi biologiche, elettrofisiologia, analisi genetiche (array, NGS) e patologia fetale.<\/li>\n\n\n\n<li>Stretta collaborazione con istituti di ricerca e diverse unit\u00e0 di ricerca<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Inoltre, data l\u2019importanza dell\u2019area geografica e della popolazione interessata, il team del Centro di Lille offre consulenze decentralizzate in diversi ospedali del nord della Francia (Arras, Calais, Dunkerque, Lens e Valenciennes)<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Inoltre, ha sviluppato una competenza specifica in materia di malformazioni degli arti a livello clinico e molecolare, fornendo consulenza diagnostica su tali malformazioni a colleghi francesi e stranieri (oltre 400 casi all\u2019anno).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Infine, il Centro di Lille vanta un forte legame con il mondo dell\u2019insegnamento (l\u2019Universit\u00e0 di Lille, che comprende la Facolt\u00e0 di Medicina, Odontoiatria, Ostetricia, Fisioterapia\u2026) e della ricerca. Il centro coordina un gruppo di ricerca sulle malattie dello sviluppo, con particolare attenzione alle malformazioni degli arti e alla disabilit\u00e0 intellettiva, e collabora con diverse unit\u00e0 dell\u2019INSERM e del CNRS.<\/p>","protected":false},"featured_media":0,"template":"","tags":[],"country":[6],"center-status":[15],"class_list":["post-384","expert-centers","type-expert-centers","status-publish","hentry","country-france","center-status-full-member"],"acf":{"name-city":"Lille Center","representative":"Pr Florence Petit ","latitude":"50.631290 ","longitude":"3.062750","keywords-search":""},"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.7 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>ERN-ITHACA \u2013 Lille Center - 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\/about-us\/expert-centers\/ern-ithaca-lille-center\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ERN-ITHACA \u2013 Lille Center - 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