{"id":456,"date":"2022-02-09T13:58:44","date_gmt":"2022-02-09T12:58:44","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&#038;p=456"},"modified":"2025-06-26T11:31:51","modified_gmt":"2025-06-26T09:31:51","slug":"ern-ithaca-coimbra-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/it\/about-us\/expert-centers\/ern-ithaca-coimbra-center\/","title":{"rendered":"ERN-ITHACA \u2013 Centro di Coimbra"},"content":{"rendered":"<figure class=\"wp-block-image size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"741\" height=\"450\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Coimbra-hospital.jpeg\" alt=\"\" class=\"wp-image-457\" style=\"width:556px;height:338px\" srcset=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Coimbra-hospital.jpeg 741w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Coimbra-hospital-600x364.jpeg 600w\" sizes=\"auto, (max-width: 741px) 100vw, 741px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><br><strong>Unit\u00e0 sanitaria locale di Coimbra (ULS di Coimbra)<\/strong><br>Quinta dos Vales<br>3041-801 COIMBRA<br>PORTOGALLO<\/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 wp-element-button\" href=\"https:\/\/www.chuc.min-saude.pt\/\">Sito web<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"lead\">Piombo<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Dott.ssa Lina Ramos<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Telefono<\/strong>: +351 239 480 638<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Fax<\/strong>: 351 239 717 216<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Posta<\/strong>:&nbsp;<a href=\"mailto:genetic@chc.min-saude.pt\">genetic@chc.min-saude.pt<\/a><\/p>\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 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<ul class=\"wp-block-list\">\n<li>oltre 5.500 sindromi dismorfiche e anomalie congenite multiple (MCA) (elencate su Orphanet), 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<li>&gt;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<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<\/p>","protected":false},"featured_media":0,"template":"","tags":[],"country":[67],"center-status":[15],"class_list":["post-456","expert-centers","type-expert-centers","status-publish","hentry","country-portugal","center-status-full-member"],"acf":{"name-city":"Coimbra Center","representative":"Dr Lina Ramos ","latitude":"40.211490 ","longitude":"-8.429200","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 Coimbra 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-coimbra-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 Coimbra Center - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"Unidade Local de Sa\u00fade de Coimbra (ULS de Coimbra)Quinta dos Vales3041-801\u00a0COIMBRAPORTUGAL Lead Dr Lina Ramos Telephone: +351 239 480 638 Fax: 351 239 717 216 Mail:&nbsp;genetic@chc.min-saude.pt 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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