{"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\/fr\/about-us\/expert-centers\/ern-ithaca-helsinki-center\/","title":{"rendered":"ERN-ITHACA \u2013 Centre d'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>Par Paasikivi \u2013 \u0152uvre personnelle, 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\">Service de g\u00e9n\u00e9tique clinique<br>HUCH \u2013 H\u00f4pital central universitaire d'Helsinki<br>2, rue Meilahdentie<br>00250 HELSINKI<br>FINLANDE<\/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\">Site web<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"lead\">Plomb<\/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>Dr Kristiina Avela<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>T\u00e9l\u00e9phone<\/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\">Champ d'application<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Notre domaine d'expertise, en tant que centre du R\u00e9seau europ\u00e9en de r\u00e9f\u00e9rence (ERN) ITHACA, couvre tous les syndromes se caract\u00e9risant par des anomalies du d\u00e9veloppement et\/ou une d\u00e9ficience intellectuelle (DI). Environ 1 nouveau-n\u00e9 sur 40 pr\u00e9sente une malformation cong\u00e9nitale (261 pour 10 000 f\u0153tus et nouveau-n\u00e9s selon les rapports EuroCAt), et 1 sur 40 est atteint de d\u00e9ficience intellectuelle. Par cons\u00e9quent, 3 \u00e0 5 % de toutes les naissances humaines pr\u00e9sentent ou d\u00e9velopperont une anomalie du d\u00e9veloppement, parmi lesquelles au moins 25 \u00e0 50 % sont d\u2019origine g\u00e9n\u00e9tique ou g\u00e9nomique. Cette population consid\u00e9rable repr\u00e9sente en r\u00e9alit\u00e9 la juxtaposition d\u2019un tr\u00e8s grand nombre de troubles individuellement rares pr\u00e9sentant une extr\u00eame diversit\u00e9 de causes et de ph\u00e9notypes. Le champ d\u2019action et le p\u00e9rim\u00e8tre d\u2019expertise de ce centre ITHACA comprennent :<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>plus de 5 500 syndromes dysmorphiques et anomalies cong\u00e9nitales multiples (MCA) (r\u00e9pertori\u00e9s dans la base de donn\u00e9es de dysmorphologie de Londres), parmi lesquels plus de 3 000 maladies monog\u00e9niques, toutes les anomalies chromosomiques (dont la plupart ne sont d\u00e9tectables que gr\u00e2ce aux technologies de puces \u00e0 ADN), des anomalies dysmorphologiques multifactorielles et sporadiques, ainsi que des embryof\u00e9topathies d\u2019origine environnementale<\/li>\n\n\n\n<li>&gt;1 500 formes monog\u00e9niques et des centaines de formes chromosomiques de d\u00e9ficience intellectuelle, associ\u00e9es ou non \u00e0 un trouble du spectre autistique (TSA).<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"service-to-patients\">Service aux patients<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Le service de g\u00e9n\u00e9tique clinique de l'H\u00f4pital universitaire d'Helsinki (HUH), au sein du HUS, intervient \u00e0 deux niveaux : nous disposons d'une \u00e9quipe de sp\u00e9cialistes au sein de notre service et nous b\u00e9n\u00e9ficions d'un vaste r\u00e9seau couvrant l'ensemble de l'HUH, voire au-del\u00e0.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Le service de g\u00e9n\u00e9tique clinique propose des consultations pour les enfants et les adultes, notamment des consultations diagnostiques, le d\u00e9pistage des porteurs, le conseil g\u00e9n\u00e9tique, le d\u00e9pistage pr\u00e9natal et le d\u00e9pistage pr\u00e9implantatoire. Actuellement, le service compte neuf g\u00e9n\u00e9ticiens cliniciens, trois internes en g\u00e9n\u00e9tique et sept infirmi\u00e8res.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Les besoins m\u00e9dicaux pluridisciplinaires de ce groupe de patients sont pris en charge gr\u00e2ce \u00e0 des consultations aupr\u00e8s d\u2019autres sp\u00e9cialistes, tels que des neurologues, des endocrinologues, des chirurgiens, des cardiologues, des ophtalmologues, des otologues, des dermatologues et des dentistes, tant pour les patients enfants que pour les adultes. Si n\u00e9cessaire, les patients sont \u00e9galement orient\u00e9s vers des kin\u00e9sith\u00e9rapeutes, des travailleurs sociaux, des nutritionnistes et des conseillers en r\u00e9adaptation. Nous orientons les patients pr\u00e9sentant des malformations cong\u00e9nitales et une d\u00e9ficience intellectuelle vers les professionnels sp\u00e9cialis\u00e9s de la clinique o\u00f9 le suivi est assur\u00e9.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Si n\u00e9cessaire, nous orientons les patients vers des consultations psychologiques ou psychiatriques, disponibles au sein m\u00eame de l'H\u00f4pital universitaire d'Helsinki. Un accompagnement psychosocial est \u00e9galement propos\u00e9 par le Centre des maladies rares Norio (<a href=\"https:\/\/www.norio-keskus.fi\/harvinaiskeskus-norio.html\">https:\/\/www.norio-keskus.fi\/harvinaiskeskus-norio.html<\/a>&nbsp;) disposant d\u2019une expertise sp\u00e9cifique dans le domaine des maladies rares associ\u00e9es \u00e0 un handicap intellectuel. Afin de r\u00e9pondre aux besoins sociaux li\u00e9s \u00e0 une maladie rare, les patients re\u00e7oivent des informations \u00e9crites ainsi que les coordonn\u00e9es des associations de patients existantes.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"organization-of-the-ithaca-helsinki-centre\">Organisation du Centre ITHACA d'Helsinki<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Le District hospitalier d\u2019Helsinki et d\u2019Uusimaa (HUS), qui regroupe l\u2019H\u00f4pital universitaire d\u2019Helsinki (HUH) et les h\u00f4pitaux affili\u00e9s de la r\u00e9gion, compte plus de 22 300 employ\u00e9s et constitue le deuxi\u00e8me plus grand groupe hospitalier au monde. C\u2019est le seul h\u00f4pital de Finlande \u00e0 proposer une prise en charge compl\u00e8te dans tous les domaines de la m\u00e9decine. L'HUH dispose des ressources n\u00e9cessaires \u00e0 cet effet, avec un nombre suffisant de blocs op\u00e9ratoires, d'unit\u00e9s de soins intensifs et de chambres d'isolement, des services disponibles 24 heures sur 24 et 7 jours sur 7, ainsi qu'un service de secours d'urgence, sans oublier le plus grand nombre d'experts hautement sp\u00e9cialis\u00e9s de Finlande. Ses services sont destin\u00e9s \u00e0 environ 1,6 million d'habitants.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">HUSLAB, notre laboratoire accr\u00e9dit\u00e9 et certifi\u00e9 au niveau international, appartenant au district hospitalier, est le plus grand de Finlande avec plus de 1 500 employ\u00e9s ; il r\u00e9alise plus de 19 millions d'analyses par an. Le laboratoire de g\u00e9n\u00e9tique HUSLAB r\u00e9alise environ 40 000 tests g\u00e9n\u00e9tiques par an, notamment des tests de g\u00e9n\u00e9tique mol\u00e9culaire \u00e0 l'aide de technologies NGS, ainsi qu'un large \u00e9ventail de tests cytog\u00e9n\u00e9tiques, y compris l'arrayCGH.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Le Centre d'imagerie m\u00e9dicale HUS est le plus grand centre d'imagerie m\u00e9dicale de Finlande et ses services sont enti\u00e8rement accr\u00e9dit\u00e9s. Ses prestations (par exemple : radiographie, tomodensitom\u00e9trie, \u00e9chographie, IRM, scintigraphie, TEP-TDM) couvrent les besoins de toutes les sp\u00e9cialit\u00e9s, y compris les n\u00f4tres, ainsi que celles auxquelles nous pourrions \u00eatre amen\u00e9s \u00e0 faire appel.<\/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\/fr\/about-us\/expert-centers\/ern-ithaca-helsinki-center\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\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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