{"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\/es\/about-us\/expert-centers\/ern-ithaca-brussels-center-erasme\/","title":{"rendered":"ERN-ITHACA \u2013 Centro de Bruselas"},"content":{"rendered":"
\"\"<\/figure>\n\n\n\n

Centre de g\u00e9n\u00e9tique humaine \u2013 ULB
Service de G\u00e9n\u00e9tique M\u00e9dicale \u2013 H\u00f4pital Erasme
Erasme Hospital \u2013 ULB
Route de Lennik 808
1070 BRUSSELS
BELGIUM<\/p>\n\n\n\n

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P\u00e1gina web<\/a><\/div>\n<\/div>\n\n\n\n

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

Pr Catheline VILAIN<\/strong><\/p>\n\n\n\n

Tel\u00e9fono<\/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

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

\u00c1mbito de aplicaci\u00f3n<\/h2>\n\n\n\n

El \u00e1mbito de especializaci\u00f3n de nuestro centro, como miembro de la Red Europea de Referencia (ERN) ITHACA, abarca todos los s\u00edndromes que presentan anomal\u00edas del desarrollo y\/o discapacidad intelectual (DI). Aproximadamente 1 de cada 40 reci\u00e9n nacidos presenta una malformaci\u00f3n cong\u00e9nita (261 de cada 10 000 fetos y reci\u00e9n nacidos, seg\u00fan los informes de EuroCAt), y 1 de cada 40 presenta DI. Por lo tanto, entre 3 y 5 % de todos los nacimientos humanos presentan o desarrollar\u00e1n una anomal\u00eda del desarrollo, de las cuales al menos entre 25 y 50 % son de origen gen\u00e9tico o gen\u00f3mico. Esta enorme poblaci\u00f3n representa, en realidad, la yuxtaposici\u00f3n de un n\u00famero muy elevado de trastornos raros a nivel individual que presentan una diversidad extrema de causas y fenotipos. La competencia y el \u00e1mbito de especializaci\u00f3n de este centro ITHACA incluyen:<\/p>\n\n\n\n

    \n
  • m\u00e1s de 5.500 s\u00edndromes dism\u00f3rficos y de anomal\u00edas cong\u00e9nitas m\u00faltiples (MCA), entre los que se incluyen m\u00e1s de 3.000 enfermedades monog\u00e9nicas, todas las anomal\u00edas cromos\u00f3micas (la mayor\u00eda de ellas detectables \u00fanicamente mediante tecnolog\u00edas de microarrays), anomal\u00edas dism\u00f3rficas multifactoriales y espor\u00e1dicas, y embriopat\u00edas de origen ambiental<\/li>\n\n\n\n
  • >3.000 formas monog\u00e9nicas y cientos de formas cromos\u00f3micas de discapacidad intelectual, con o sin trastorno del espectro autista (TEA) asociado<\/li>\n<\/ul>\n\n\n\n

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