{"id":375,"date":"2022-02-08T11:44:31","date_gmt":"2022-02-08T10:44:31","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&#038;p=375"},"modified":"2023-02-09T13:09:10","modified_gmt":"2023-02-09T12:09:10","slug":"ern-ithaca-helsinki-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/it\/about-us\/expert-centers\/ern-ithaca-helsinki-center\/","title":{"rendered":"ERN-ITHACA \u2013 Centro di Helsinki"},"content":{"rendered":"<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"768\" height=\"523\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Meilahti-Hospital-Helsinki.jpeg\" alt=\"\" class=\"wp-image-377\" srcset=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Meilahti-Hospital-Helsinki.jpeg 768w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Meilahti-Hospital-Helsinki-600x409.jpeg 600w\" sizes=\"auto, (max-width: 768px) 100vw, 768px\" \/><figcaption class=\"wp-element-caption\"><em>Di Paasikivi \u2013 Opera propria, CC BY-SA 3.0, https:\/\/commons.wikimedia.org\/w\/index.php?curid=25960432<\/em><\/figcaption><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Dipartimento di Genetica Clinica<br>HUCH \u2013 Ospedale centrale dell\u2019Universit\u00e0 di Helsinki<br>Meilahdentie 2<br>00250 HELSINKI<br>FINLANDIA<\/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.helsinki.fi\/en\/faculty-of-medicine\/department-of-medical-genetics\">Sito web<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"lead\">Piombo<\/h2>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-vertically-aligned-center is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:15%\"><\/div>\n\n\n\n<div class=\"wp-block-column is-vertically-aligned-center is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:85%\">\n<p class=\"wp-block-paragraph\"><strong>Dott.ssa Kristiina Avela<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Telefono<\/strong>: +358 9 471 72189<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Fax<\/strong>: +358 9 471 76089<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"scope\">Ambito di applicazione<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">La nostra area di competenza, in qualit\u00e0 di centro 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 rapporti 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 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>\n\n\n\n<li>&gt;1.500 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<h3 class=\"wp-block-heading\" id=\"service-to-patients\">Assistenza ai pazienti<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Il Dipartimento di Genetica Clinica dell\u2019Ospedale Universitario di Helsinki (HUH), facente parte dell\u2019HUS, opera su due livelli: disponiamo di un gruppo di specialisti all\u2019interno della nostra unit\u00e0 e di un\u2019ampia rete che si estende a tutto l\u2019HUH e anche oltre.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Il Dipartimento di Genetica Clinica offre consulenze per bambini e adulti, tra cui consulenze diagnostiche, screening dei portatori, consulenza genetica, test prenatali e test preimpianto. Attualmente, presso il dipartimento lavorano nove genetisti clinici, tre specializzandi in genetica e sette infermieri.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Le esigenze mediche multidisciplinari di questo gruppo di pazienti vengono affrontate attraverso consulti con altri specialisti, ad esempio neurologi, endocrinologi, chirurghi, cardiologi, oftalmologi, otologi, dermatologi e dentisti, sia per i pazienti pediatrici che per quelli adulti. Se necessario, i pazienti vengono inoltre indirizzati a fisioterapisti, assistenti sociali, nutrizionisti e consulenti di riabilitazione. Indirizziamo i pazienti con malformazioni congenite e disabilit\u00e0 intellettiva agli operatori specializzati della clinica in cui viene effettuato il follow-up.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Se necessario, indirizziamo i pazienti a consulenze psicologiche o psichiatriche, disponibili internamente presso l\u2019Ospedale Universitario di Helsinki. Il sostegno psicosociale viene offerto anche tramite il Centro per le Malattie Rare Norio (<a href=\"https:\/\/www.norio-keskus.fi\/harvinaiskeskus-norio.html\">https:\/\/www.norio-keskus.fi\/harvinaiskeskus-norio.html<\/a>&nbsp;) con competenze specifiche sulle malattie rare associate a disabilit\u00e0 intellettiva. Per rispondere alle esigenze sociali derivanti da una malattia rara, ai pazienti vengono fornite informazioni scritte e i recapiti delle associazioni di pazienti disponibili.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"organization-of-the-ithaca-helsinki-centre\">Organizzazione del Centro ITHACA di Helsinki<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Il Distretto Ospedaliero di Helsinki e Uusimaa (HUS), che comprende l\u2019Ospedale Universitario di Helsinki (HUH) e gli ospedali affiliati della zona circostante, conta oltre 22.300 dipendenti ed \u00e8 la seconda organizzazione ospedaliera pi\u00f9 grande al mondo. \u00c8 l\u2019unico ospedale in Finlandia a offrire assistenza completa in tutti i settori della medicina. L\u2019HUH dispone delle risorse necessarie, con un numero adeguato di sale operatorie, unit\u00e0 di terapia intensiva, camere di isolamento, servizi attivi 24 ore su 24, 7 giorni su 7 e pronto soccorso, oltre al maggior numero di esperti altamente specializzati in Finlandia. I servizi sono forniti a circa 1,6 milioni di abitanti.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">HUSLAB, il nostro laboratorio accreditato e certificato a livello internazionale, di propriet\u00e0 del distretto ospedaliero, \u00e8 il pi\u00f9 grande della Finlandia con oltre 1.500 dipendenti ed esegue oltre 19 milioni di analisi di laboratorio all\u2019anno. Il Laboratorio di Genetica di HUSLAB esegue circa 40.000 test genetici all\u2019anno, compresi test di genetica molecolare con tecnologie NGS e un\u2019ampia gamma di test citogenetici, tra cui l\u2019arrayCGH.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">L\u2019HUS Medical Imaging Center \u00e8 il pi\u00f9 grande centro di diagnostica per immagini della Finlandia e i suoi servizi sono pienamente accreditati. I servizi offerti (ad esempio radiografie, scansioni, ecografie, TAC, risonanza magnetica, scansioni isotopiche, PET-TAC) coprono le esigenze di tutte le specialit\u00e0, quindi anche le nostre e quelle di chi potremmo dover consultare.<\/p>","protected":false},"featured_media":0,"template":"","tags":[],"country":[55],"center-status":[15],"class_list":["post-375","expert-centers","type-expert-centers","status-publish","hentry","country-finland","center-status-full-member"],"acf":{"name-city":"Helsinki Center","representative":"Dr Kristiina Avela","latitude":"60.169857 ","longitude":"24.938379","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 Helsinki 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-helsinki-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 Helsinki Center - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"Department of Clinical GeneticsHUCH \u2013 Helsinki University Central HospitalMeilahdentie 200250 HELSINKIFINLAND Lead Dr Kristiina Avela Telephone: +358 9 471 72189 Fax: +358 9 471 76089 Scope Our area of expertise as ITHACA European Reference Network (ERN) centre covers all syndromes exhibiting developmental anomalies and\/or intellectual disability (ID). 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