{"id":389,"date":"2022-02-08T13:10:49","date_gmt":"2022-02-08T12:10:49","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&#038;p=389"},"modified":"2022-02-13T15:15:20","modified_gmt":"2022-02-13T14:15:20","slug":"ern-ithaca-lyon-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/it\/about-us\/expert-centers\/ern-ithaca-lyon-center\/","title":{"rendered":"ERN-ITHACA \u2013 Centro di Lione"},"content":{"rendered":"<figure class=\"wp-block-image size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Logo-HCL.jpeg\" alt=\"\" class=\"wp-image-390\" width=\"225\" height=\"225\"\/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Servizio di genetica<br>Ospedale per donne, madri e bambini<br>59 boulevard Pinel<br>69677 BRON CEDEX<br>Francia<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Centro di riferimento per le anomalie dello sviluppo e le malformazioni:<\/strong><\/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\" href=\"https:\/\/www.chu-lyon.fr\/fr\/centre-de-reference-des-anomalies-du-developpement-et-syndromes-malformatifs-du-sud-est\">Sito web<\/a><\/div>\n<\/div>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Centro di riferimento per la disabilit\u00e0 intellettiva:<\/strong><\/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\" href=\"https:\/\/www.chu-lyon.fr\/fr\/centre-de-reference-des-deficiences-intellectuelles-de-causes-rares\">Sito web 2<\/a><\/div>\n<\/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=\"184\" height=\"204\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Dr-Massimiliano-Rossi.png\" alt=\"\" class=\"wp-image-391\"\/><\/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>Dott. Massimiliano ROSSI<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Telefono<\/strong>: +33 (0)4 27 85 55 73<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Fax<\/strong>: +33 (0)4 27 85 52 45<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Posta<\/strong>:&nbsp;<a href=\"mailto:ghe.genetiquehfme@chu-lyon.fr\">ghe.genetiquehfme@chu-lyon.fr<\/a><\/p>\n<\/div>\n<\/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 Lione della Rete di riferimento europea (ERN) ITHACA copre tutte le sindromi caratterizzate da anomalie dello sviluppo, comprese le sindromi da malformazione e\/o la disabilit\u00e0 intellettiva (DI), dal periodo fetale fino all\u2019et\u00e0 adulta. Ci\u00f2 include anomalie fisiche, anomalie neurologiche, disturbi comportamentali e menomazioni neurosensoriali.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Circa 1 neonato su 40 presenta una malformazione congenita (261 su 10.000 feti e neonati secondo i dati 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 la giustapposizione di un numero molto elevato di disturbi, singolarmente rari, che presentano un\u2019estrema diversit\u00e0 di cause e fenotipi.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">L'ambito di attivit\u00e0 del Centro Lyon ITHACA comprende:<\/p>\n\n\n\n<ul class=\"wp-block-list\"><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), condizioni dismorfiche multifattoriali e sporadiche ed embriopatie di origine ambientale<\/li><li>&gt;1.500 forme monogeniche e centinaia di forme cromosomiche di ritardo mentale, con o senza disturbo dello spettro autistico (ASD) associato.<\/li><\/ul>\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\">Questo centro sanitario (HCP) si trova a Lione, la terza citt\u00e0 pi\u00f9 grande della Francia, nel dipartimento del Rodano, che conta una popolazione di oltre 1,8 milioni di persone. Fornisce assistenza multidisciplinare ai pazienti e alle loro famiglie, offrendo diagnosi cliniche, test genetici prenatali e postnatali, screening familiare, consulenza genetica, valutazione neurologica e neuropsicologica, gestione, trattamenti e follow-up.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"organization-of-the-ithaca-ern-lyon-centre\">Organizzazione della rete ERN ITHACA \u2013 Centro di Lione<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">L\u2019HCP \u00e8 un consorzio che comprende il Centro di riferimento per le anomalie dello sviluppo e le sindromi malformative del Dipartimento di Genetica e il Centro di riferimento per la disabilit\u00e0 intellettiva del Dipartimento di Neurologia infantile dell\u2019ospedale Femme-M\u00e8re-Enfant di Lione, che fa parte del 2\u00b0<sup>nd<\/sup>&nbsp;il pi\u00f9 grande ospedale universitario di Francia (Hospices Civils de Lyon).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">I reparti di Neurologia genetica e pediatrica comprendono:<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>Unit\u00e0 cliniche che forniscono una caratterizzazione fenotipica dettagliata nei campi della dismorfologia, della neurologia, della neuropsicologia, della neurofisiologia, della psichiatria e della pediatria<\/li><li>Unit\u00e0 di laboratorio, tra cui un laboratorio di citogenetica dotato di una piattaforma array-CGH e un laboratorio di genetica molecolare specializzato nella diagnosi prenatale non invasiva e dotato di una piattaforma di sequenziamento di nuova generazione e bioinformatica. Nel 2017, in linea con il piano nazionale \u201cFrance M\u00e9decine G\u00e9nomique 2025\u201d, \u00e8 stata istituita a Lione la piattaforma genomica AURAGEN, che fornisce analisi dell\u2019intero genoma in un contesto diagnostico di routine (<a href=\"https:\/\/www.chu-lyon.fr\/en\/auragen-genome-sequencing-platform-very-high-speed\">https:\/\/www.chu-lyon.fr\/en\/auragen-genome-sequencing-platform-very-high-speed<\/a>).<\/li><\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Il team HCP \u00e8 particolarmente impegnato nello sviluppo di diagnosi, gestione e terapie personalizzate nel campo delle malattie dello sviluppo, nonch\u00e9 in attivit\u00e0 didattiche, con un\u2019ampia gamma di corsi di formazione, con particolare attenzione alle questioni etiche.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Il dipartimento di Genetica comprende un gruppo di ricerca specializzato nei disturbi dello sviluppo neurologico (Gruppo di Genetica dello Sviluppo Neurologico\/GENDEV, Centro di Ricerca in Neuroscienze di Lione\/CRNL, INSERM U1028, CNRS UMR 5292, Universit\u00e0 di Lione 1). Il dipartimento di Neurologia infantile \u00e8 affiliato a un gruppo di ricerca che si occupa di cognizione (L2C2, Istituto di Scienze Cognitive, CNRS UMR 5304, Universit\u00e0 di Lione 1).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">A livello regionale e nazionale:<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>Il CLAD di Lione coordina il Centro di riferimento interregionale multisito SUD-EST PACA per le anomalie dello sviluppo, che comprende i reparti di genetica di Grenoble, Saint-\u00c9tienne, Clermont-Ferrand, Marsiglia, Nizza e Tolone. Inoltre, contribuisce attivamente alla rete sanitaria nazionale AnDDI-Rares (<a href=\"http:\/\/www.andi-rares.org\/\">andi-rares.org<\/a>) relativa ai pazienti che presentano MCA con o senza ID.<\/li><li>Il CRDI coordina la rete sanitaria nazionale D\u00e9fiScience (<a href=\"https:\/\/www.defiscience.fr\/\">https:\/\/www.defiscience.fr<\/a>) relative alle malattie rare caratterizzate da anomalie dello sviluppo cerebrale e\/o da disabilit\u00e0 intellettiva.<\/li><\/ul>","protected":false},"featured_media":0,"template":"","tags":[],"country":[6],"center-status":[15],"class_list":["post-389","expert-centers","type-expert-centers","status-publish","hentry","country-france","center-status-full-member"],"acf":{"name-city":"Lyon Center","representative":"Dr Massimiliano ROSSI","latitude":"45.767310 ","longitude":"4.834310","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 Lyon 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-lyon-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 Lyon Center - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"Service de g\u00e9n\u00e9tiqueH\u00f4pital&nbsp; Femme-M\u00e8re-Enfant59 boulevard Pinel69677 BRON CEDEXFrance Referral Centre for Developmental Anomalies and Malformation: Referral Centre for Intellectual Disability: Lead Dr Massimiliano ROSSI Telephone: +33 (0)4 27 85 55 73 Fax: +33 (0)4 27 85 52 45 Mail:&nbsp;ghe.genetiquehfme@chu-lyon.fr Scope The area of expertise of the Lyon Centre of the ITHACA European Reference Network (ERN) [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/ern-ithaca.eu\/it\/about-us\/expert-centers\/ern-ithaca-lyon-center\/\" \/>\n<meta property=\"og:site_name\" content=\"ERN ITHACA\" \/>\n<meta property=\"article:modified_time\" content=\"2022-02-13T14:15:20+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Logo-HCL.jpeg\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:site\" content=\"@ERNIthaca\" \/>\n<meta name=\"twitter:label1\" content=\"Tempo di lettura stimato\" \/>\n\t<meta name=\"twitter:data1\" content=\"3 minuti\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/about-us\\\/expert-centers\\\/ern-ithaca-lyon-center\\\/\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/about-us\\\/expert-centers\\\/ern-ithaca-lyon-center\\\/\",\"name\":\"ERN-ITHACA \u2013 Lyon Center - 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