{"id":361,"date":"2022-02-08T11:19:08","date_gmt":"2022-02-08T10:19:08","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&p=361"},"modified":"2025-06-11T13:54:22","modified_gmt":"2025-06-11T11:54:22","slug":"ern-ithaca-brussels-center-erasme","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/it\/about-us\/expert-centers\/ern-ithaca-brussels-center-erasme\/","title":{"rendered":"ERN-ITHACA \u2013 Bruxelles Centro"},"content":{"rendered":"
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Centro di genetica umana \u2013 ULB
Servizio di Genetica Medica \u2013 Ospedale Erasmo
Ospedale Erasme \u2013 ULB
Via Lennik 808
1070 BRUXELLES
BELGIO<\/p>\n\n\n\n

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

Piombo<\/h2>\n\n\n\n
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\"\"<\/figure>\n<\/div>\n\n\n\n
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Prof.ssa Catheline VILAIN<\/strong><\/p>\n\n\n\n

Telefono<\/strong>: +32 (0)2 555 64 30<\/p>\n\n\n\n

Fax<\/strong>: +32 (0)2 555 64 40<\/p>\n\n\n\n

Posta<\/strong>: genmed@erasme.ulb.ac.be<\/a><\/p>\n<\/div>\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

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