{"id":400,"date":"2022-02-08T13:34:13","date_gmt":"2022-02-08T12:34:13","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&#038;p=400"},"modified":"2022-02-13T15:15:55","modified_gmt":"2022-02-13T14:15:55","slug":"ern-ithaca-montpellier-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/it\/about-us\/expert-centers\/ern-ithaca-montpellier-center\/","title":{"rendered":"ERN-ITHACA \u2013 Centro di Montpellier"},"content":{"rendered":"<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"500\" height=\"318\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/HCP-Montpellier-Center-Hospital.jpeg\" alt=\"\" class=\"wp-image-402\"\/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">CENTRO OSPEDALIERO UNIVERSITARIO DI MONTPELLIER<br>191 av. du Doyen Giraud<br>34295 Montpellier Cedex 5<\/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-montpellier.fr\/fr\/offre-de-soins\/medecins\/david-genevieve-46868\">Sito web<\/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=\"548\" height=\"768\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Pr-David-Genevieve.jpeg\" alt=\"\" class=\"wp-image-401\" srcset=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Pr-David-Genevieve.jpeg 548w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Pr-David-Genevieve-428x600.jpeg 428w\" sizes=\"auto, (max-width: 548px) 100vw, 548px\" \/><\/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 David GENEVIEVE<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Telefono<\/strong>: 0033 4 67 33 67 33<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Posta<\/strong>: <a href=\"mailto:d-genevieve@chu-montpellier.fr\">d-genevieve@chu-montpellier.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 Montpellier della Rete di Riferimento Europea (ERN) ITHACA copre tutte le sindromi caratterizzate da anomalie dello sviluppo e\/o disabilit\u00e0 intellettiva (DI). \u00a0Circa 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. La competenza territoriale e l\u2019ambito di specializzazione del Centro di Bordeaux ITHACA comprendono:<\/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), anomalie dismorfiche multifattoriali e sporadiche ed embriopatie-fetopatie 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\">La popolazione regionale di competenza del Centro di Montpellier conta oltre 5,893 milioni di abitanti (Occitania). L\u2019HCP \u00e8 uno dei due ospedali della regione Occitania dotati di un reparto di genetica ed \u00e8 l\u2019unico HCP affiliato all\u2019ERN ITHACA in questa regione.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Il Centro di Riferimento di Montpellier (CLAD-SOOR) ha sede presso l\u2019Ospedale Universitario di Montpellier ed \u00e8 stato certificato in Francia nel 2004. Il CLAD-SOOR fornisce assistenza a pazienti di qualsiasi et\u00e0, dal periodo fetale all\u2019et\u00e0 adulta, nonch\u00e9 alle donne in gravidanza. Il CLAD-SOOR riunisce tutti i servizi di consulenza genetica, compresa la diagnosi preimpianto, del Sud della Francia, la cui attivit\u00e0 \u00e8 incentrata in larga misura sulle anomalie dello sviluppo e sulle sindromi malformative. Il CLAD-SOOR ha il compito di svolgere funzioni di perizia e coordinamento dell\u2019assistenza medica, paramedica, psicologica e sociale. Il dipartimento di Genetica contribuisce all\u2019assistenza offrendo diagnosi genetiche, test genetici, screening familiari, consulenza genetica, valutazione neuropsicologica, diagnosi prenatale, follow-up della diagnosi preimpianto e assistenza ai pazienti con MCA e ID, nonch\u00e9 test terapeutici nel campo delle anomalie dello sviluppo. Il dipartimento clinico comprende 7 medici genetisti, 1 consulente genetico, 2 infermieri e 2 psicologi. Il personale sanitario \u00e8 in stretto contatto con una rete dedicata alle malattie rare della regione dell\u2019Occitania.&nbsp;<a href=\"https:\/\/www.reseau-maladies-rares.fr\/\">https:\/\/www.reseau-maladies-rares.fr\/<\/a>. Questa rete consente ai pazienti di accedere facilmente a cure specifiche e a professionisti specializzati nelle malattie rare al di fuori dell\u2019HCP, ovvero in tutta la regione dell\u2019Occitania. I pazienti vengono visitati in ambulatorio o in regime di day hospital. Il dipartimento dispone di tre laboratori: biologia molecolare (compreso un centro NGS), citogenetica (compresa la tecnologia array) e patologia fetale. Il dipartimento collabora con il reparto di neurologia pediatrica, che contribuisce alla cura dei disturbi metabolici e dell\u2019epilessia infantile. Data l\u2019ampia area geografica che il CLAD-SOOR deve coprire, prevediamo di proporre il servizio di teleconsulenza.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"organization-of-the-center\">Organizzazione del Centro<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Il CHU di Montpellier \u00e8 uno dei pi\u00f9 grandi ospedali della Francia (oltre 309 posti letto in pediatria e un reparto di maternit\u00e0 con 3.900 nascite). Offre una copertura completa delle cure generali e specialistiche per bambini e donne in gravidanza, in particolare: un reparto di genetica medica che offre consulenza genetica per bambini, adulti e donne in gravidanza; un reparto di neurologia infantile e disturbi metabolici; un reparto di psichiatria infantile che offre diagnosi e cure multidisciplinari per bambini con disabilit\u00e0 intellettiva; reparti di pediatria generale, cardiologia pediatrica, nefrologia, chirurgia, ortopedia, otorinolaringoiatria, oftalmologia\u2026; strutture per la diagnostica prenatale; supporto tecnico completo, che comprende laboratori medici tradizionali, diagnostica per immagini, analisi biologiche, elettrofisiologia, analisi genetiche (array, NGS) e patologia fetale. L\u2019Unit\u00e0 di Genetica, fulcro della presente domanda, si occupa di diagnosi genetica, test genetici, screening familiare, consulenza genetica, diagnosi prenatale, diagnosi preimpianto, follow-up e assistenza ai pazienti affetti da MCA e ID, nonch\u00e9 di test terapeutici nel campo delle anomalie dello sviluppo (sindrome dell\u2019X fragile, trisomia 21, contatto con l\u2019azienda Takeda in merito alla sindrome di Kabuki...).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Il coordinatore del centro di riferimento \u00e8 il direttore della rete per le malattie rare della regione dell'Occitania&nbsp;<a href=\"https:\/\/www.reseau-maladies-rares.fr\/\">https:\/\/www.reseau-maladies-rares.fr\/<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">L'HCP si occupa di malattie rare, in particolare di malformazioni congenite con coinvolgimento craniofacciale, come la sindrome di Treacher-Coillin, nonch\u00e9 di patologie dovute a varianti patogene nei geni coinvolti nella regolazione della cromatina (sindrome di Kabuki, CDK13, YY1, ecc.).<\/p>","protected":false},"featured_media":0,"template":"","tags":[],"country":[6],"center-status":[15],"class_list":["post-400","expert-centers","type-expert-centers","status-publish","hentry","country-france","center-status-full-member"],"acf":{"name-city":"Montpellier Center","representative":"Pr David Genevieve","latitude":"43.610767 ","longitude":"3.876716","keywords-search":""},"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.7 - 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