{"id":370,"date":"2022-02-08T11:35:50","date_gmt":"2022-02-08T10:35:50","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&#038;p=370"},"modified":"2022-02-23T13:38:38","modified_gmt":"2022-02-23T12:38:38","slug":"ern-ithaca-prague-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/it\/about-us\/expert-centers\/ern-ithaca-prague-center\/","title":{"rendered":"ERN-ITHACA \u2013 Prague Center"},"content":{"rendered":"<p class=\"wp-block-paragraph\">Clinical Genetics Unit<br>Department of biology and medical genetics<br>Motol university hospital \u2013 2nd Medical School Charles University Prague<br>V Uvalu 84<br>150 06&nbsp;PRAHA&nbsp;5<br>Repubblica Ceca<\/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=\"http:\/\/www.fnmotol.cz\/ublg\/\">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>Pr Dr Milan Macek<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Telefono<\/strong>: +420 224 433 564<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Fax<\/strong>: +420 224 433 520<\/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\"><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 dismorfologiche multifattoriali e sporadiche ed embriopatie 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<\/p>","protected":false},"featured_media":0,"template":"","tags":[],"country":[52],"center-status":[15],"class_list":["post-370","expert-centers","type-expert-centers","status-publish","hentry","country-czech-republic","center-status-full-member"],"acf":{"name-city":"Prague Center","representative":"Pr Dr Milan Macek","latitude":"50.075539 ","longitude":"14.437800","keywords-search":""},"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.7 - 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