{"id":366,"date":"2022-02-08T11:28:47","date_gmt":"2022-02-08T10:28:47","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&p=366"},"modified":"2025-06-11T12:53:59","modified_gmt":"2025-06-11T10:53:59","slug":"ern-ithaca-university-hospital-leuven","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/it\/about-us\/expert-centers\/ern-ithaca-university-hospital-leuven\/","title":{"rendered":"ERN-ITHACA \u2013 Centro di Lovanio"},"content":{"rendered":"
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Dipartimento di Genetica Umana
Ospedali universitari di Lovanio \u2013 Gasthuisberg<\/strong>
Herestraat 49
3000 Lovanio
Belgio<\/p>\n\n\n\n

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Sito web<\/a><\/div>\n<\/div>\n\n\n\n
<\/div>\n\n\n\n

Piombo<\/h2>\n\n\n\n
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\"\"<\/figure>\n<\/div>\n\n\n\n
\n

Prof.ssa Hilde Van Esch<\/strong><\/p>\n\n\n\n

Telefono<\/strong>: +32 (0)16 33 22 11<\/p>\n\n\n\n

Fax<\/strong>: +32 (0)16 34 60 60<\/p>\n\n\n\n

Posta<\/strong>: mailto:cme@uzleuven.be<\/a><\/p>\n<\/div>\n<\/div>\n\n\n\n

<\/div>\n\n\n\n

Ambito di applicazione<\/h2>\n\n\n\n

L\u2019area di competenza del nostro Centro, in qualit\u00e0 di membro 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 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. La competenza e l\u2019ambito di specializzazione di questo Centro ITHACA comprendono:<\/p>\n\n\n\n

    \n
  • oltre 5.500 sindromi dismorfiche e anomalie congenite multiple (MCA), 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
  • >3000 forme monogeniche e centinaia di forme cromosomiche di ritardo mentale, con o senza disturbo dello spettro autistico (ASD) associato<\/li>\n<\/ul>\n\n\n\n
    <\/div>\n\n\n\n

    Assistenza ai pazienti<\/h2>\n\n\n\n

    La popolazione regionale coperta dal CME-Leuven conta oltre 6 milioni di abitanti. Prestiamo circa 4.700 visite all\u2019anno presso l\u2019UZLeuven. Inoltre, gestiamo ambulatori di genetica in 12 ospedali periferici delle Fiandre e in strutture per bambini e adulti con disabilit\u00e0 intellettiva e disabilit\u00e0 multiple, per un totale di altre 5.200 visite all\u2019anno. I nostri laboratori diagnostici effettuano circa 56.000 test genetici all\u2019anno.<\/p>\n\n\n\n

    Il Centro contribuisce all\u2019assistenza dei pazienti offrendo diagnosi cliniche, test genetici, screening familiare, consulenza genetica, valutazioni neuropsicologiche e neuropsichiatriche, diagnosi prenatale, follow-up e coordinamento dell\u2019assistenza diurna e della rieducazione dei pazienti, nonch\u00e9 interventi terapeutici nel campo della disabilit\u00e0 intellettiva (sindrome dell\u2019X fragile; neurofibromatosi).<\/p>\n\n\n\n

    <\/div>\n\n\n\n

    Organizzazione del Centro<\/h2>\n\n\n\n

    L'UZLeuven \u00e8 il pi\u00f9 grande ospedale del Belgio, con oltre 128 posti letto in pediatria, oltre 1.764 posti letto per adulti e oltre 2.220 nascite all'anno.<\/p>\n\n\n\n

    La competenza generale del CME-UZLeuven nel campo delle malattie rare \u00e8 stata riconosciuta a livello nazionale.<\/p>\n\n\n\n

    In qualit\u00e0 di centro, siamo coinvolti in oltre 30 \u201cpercorsi di cura\u201d all\u2019interno dell\u2019ospedale. \u00c8 disponibile un supporto tecnico completo, che comprende i classici laboratori medici, la diagnostica per immagini, le analisi biologiche, l\u2019elettrofisiologia, le analisi genetiche e genomiche \u2013 inclusi gli array e il NGS \u2013 e la patologia fetale.<\/p>\n\n\n\n

    Partecipiamo e\/o siamo organizzatori delle seguenti cliniche multidisciplinari:<\/p>\n\n\n\n

      \n
    • Sindromi specifiche (sindrome di Down, sindrome di Williams, sindrome di Rett, sindrome dell\u2019X fragile, VCFS)<\/li>\n\n\n\n
    • Autismo<\/li>\n\n\n\n
    • Malformazioni congenite degli arti - Displasie scheletriche<\/li>\n\n\n\n
    • Medicina fetale \u2013 Diagnosi prenatale \u2013 Patologia fetale<\/li>\n\n\n\n
    • Neurologia infantile \u2013 Centro per i disturbi dello sviluppo (COS)<\/li>\n\n\n\n
    • Malformazioni cardiache congenite<\/li>\n\n\n\n
    • Malattie neuromuscolari (bambini e adulti)<\/li>\n\n\n\n
    • Epilessia (bambini e adulti)<\/li>\n\n\n\n
    • Disturbi neurocutanei (neurofibromatosi di tipo 1 e 2, sindrome di Cowden, sindrome del carcinoma basocellulare nevoide, sindrome da sclerosi tuberosa)<\/li>\n\n\n\n
    • Schizis<\/li>\n\n\n\n
    • Sordit\u00e0 ereditaria<\/li>\n<\/ul>\n\n\n\n

      Facciamo parte del Dipartimento di Genetica Umana, composto da diversi gruppi di ricerca di eccellenza che coprono tutti gli aspetti della genetica umana (neurogenetica, genetica dello sviluppo, genetica comportamentale, genetica del cancro, genetica delle popolazioni, epigenetica, ecc.).<\/p>\n\n\n\n

      Tutti i genetisti clinici e i responsabili di laboratorio ricoprono una carica accademica e svolgono anche attivit\u00e0 didattica presso la Facolt\u00e0 di Medicina.<\/p>","protected":false},"featured_media":0,"template":"","tags":[],"country":[14],"center-status":[15],"class_list":["post-366","expert-centers","type-expert-centers","status-publish","hentry","country-belgium","center-status-full-member"],"acf":{"name-city":"University Hospital Leuven","representative":"Pr Hilde Van Esch","latitude":"50.879830 ","longitude":"4.700540","keywords-search":""},"yoast_head":"\nERN-ITHACA \u2013 Leuven 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-university-hospital-leuven\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ERN-ITHACA \u2013 Leuven Center - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"Departement Menselijke ErfelijkheidUniversity Hospitals Leuven \u2013 GasthuisbergHerestraat 493000\u00a0LEUVENBelgium Lead Pr Hilde Van Esch Telephone: +32 (0)16 33 22 11 Fax: +32 (0)16 34 60 60 Mail: mailto:cme@uzleuven.be Scope The area of expertise of our Centre, as member of the ITHACA European Reference Network (ERN), covers all syndromes exhibiting developmental anomalies and\/or intellectual disability (ID). 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