{"id":374,"date":"2022-02-08T11:40:29","date_gmt":"2022-02-08T10:40:29","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&#038;p=374"},"modified":"2025-05-19T10:02:25","modified_gmt":"2025-05-19T08:02:25","slug":"ern-ithaca-tartu-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/es\/about-us\/expert-centers\/ern-ithaca-tartu-center\/","title":{"rendered":"ERN-ITHACA \u2013 Centro de Tartu"},"content":{"rendered":"<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"1444\" height=\"962\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/04\/Image1.png\" alt=\"\" class=\"wp-image-1890\" srcset=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/04\/Image1.png 1444w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/04\/Image1-600x400.png 600w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/04\/Image1-768x512.png 768w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/04\/Image1-1320x879.png 1320w\" sizes=\"auto, (max-width: 1444px) 100vw, 1444px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Hospital Universitario de Tartu<\/strong><br>L. Puusepa, 1a<br>Tartu 50406<br>ESTONIA<\/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 has-background wp-element-button\" href=\"https:\/\/www.kliinikum.ee\/en\/about-the-hospital\/\" style=\"background-color:#ca4f29\">P\u00e1gina web<\/a><\/div>\n<\/div>\n\n\n\n<div style=\"height:35px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Plomo<\/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-layout-flow wp-block-column-is-layout-flow\">\n<p class=\"wp-block-paragraph\"><strong>Dra. Kristi Tael<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"mailto:kristi.tael@kliinikum.ee\">kristi.tael@kliinikum.ee<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">+372 7319491<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<p class=\"wp-block-paragraph\"><strong>Katrin \u00d5unap<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"mailto:Katrin.ounap@kliinikum.ee\">Katrin.ounap@kliinikum.ee<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">+372 7319491<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:35px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"scope\">\u00c1mbito de aplicaci\u00f3n<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">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<ul class=\"wp-block-list\">\n<li>m\u00e1s de 5.500 s\u00edndromes dism\u00f3rficos y de anomal\u00edas cong\u00e9nitas m\u00faltiples (MCA) (recogidos en la Base de Datos de Dismorfolog\u00eda de Londres), entre los que se incluyen m\u00e1s de 3.000 enfermedades monog\u00e9nicas, todas las anomal\u00edas cromos\u00f3micas (la mayor\u00eda de ellas solo detectables mediante tecnolog\u00edas de microarrays), anomal\u00edas dism\u00f3rficas multifactoriales y espor\u00e1dicas, y embriopat\u00edas de origen ambiental<\/li>\n\n\n\n<li>&gt;1.500 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<div style=\"height:35px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"service-to-patients\">Atenci\u00f3n a los pacientes<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">La Cl\u00ednica de Gen\u00e9tica y Medicina Personalizada del Hospital Universitario de Tartu cuenta con tres departamentos: el Departamento de Gen\u00e9tica Cl\u00ednica, el Departamento de Gen\u00e9tica de Laboratorio y el Departamento de Medicina Personalizada. El Departamento de Gen\u00e9tica Cl\u00ednica ofrece consultas para ni\u00f1os y adultos, entre las que se incluyen consultas de diagn\u00f3stico y seguimiento, pruebas de detecci\u00f3n de portadores, asesoramiento gen\u00e9tico y pruebas prenatales. En el departamento trabajan once genetistas cl\u00ednicos, seis residentes en gen\u00e9tica cl\u00ednica, un terapeuta nutricional, un coordinador de trabajo social y cinco enfermeros.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">La atenci\u00f3n m\u00e9dica multidisciplinar e interdisciplinar de los pacientes se lleva a cabo mediante consultas con otros especialistas. En 2021 se inaugur\u00f3 un nuevo centro para enfermedades raras: el Harvikhaiguste keskus (<a href=\"https:\/\/www.kliinikum.ee\/harvikhaigused\/\">https:\/\/www.kliinikum.ee\/harvikhaigused\/<\/a>) \u2013 donde los m\u00e9dicos, los pacientes y sus familias pueden plantear todo tipo de consultas (principalmente sobre diagn\u00f3stico, seguimiento, tratamiento, rehabilitaci\u00f3n, derechos sociales, etc.) y se llevan a cabo consultas multidisciplinares.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">El departamento cl\u00ednico colabora estrechamente con los laboratorios de diagn\u00f3stico molecular, citogen\u00e9tico y metab\u00f3lico. El laboratorio de gen\u00e9tica diagn\u00f3stica, acreditado, realiza pruebas de gen\u00e9tica molecular, citogen\u00e9tica molecular y citogen\u00e9tica. Aplica m\u00e9todos de vanguardia basados en la secuenciaci\u00f3n de nueva generaci\u00f3n (NGS), entre los que se incluyen los paneles multig\u00e9nicos y la secuenciaci\u00f3n del exoma completo. Las reuniones conjuntas peri\u00f3dicas del personal facilitan la mejora de la calidad y los debates basados en casos concretos. Tambi\u00e9n tenemos inter\u00e9s en la investigaci\u00f3n de pacientes sin diagnosticar. Si el estudio diagn\u00f3stico est\u00e1ndar no identifica una etiolog\u00eda clara, se puede proponer al paciente que participe en un proyecto de investigaci\u00f3n centrado en la identificaci\u00f3n de nuevas enfermedades hereditarias.<\/p>\n\n\n\n<div style=\"height:35px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Organizaci\u00f3n del centro<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">El Hospital Universitario de Tartu (TUH) es el mayor proveedor de asistencia sanitaria de Estonia. Ofrece asistencia m\u00e9dica terciaria de alta calidad en casi todas las especialidades. El TUH presta servicios hospitalarios, ambulatorios y comunitarios a pacientes de toda Estonia, as\u00ed como servicios hospitalarios, ambulatorios o de telemedicina a visitantes del pa\u00eds o a pacientes de otros pa\u00edses de todo el mundo.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">El TUH es el \u00fanico centro m\u00e9dico de Estonia que ofrece pruebas gen\u00e9ticas y asesoramiento gen\u00e9tico para una amplia gama de indicaciones cl\u00ednicas y para todos los grupos de edad. El TUH presta asistencia m\u00e9dica a pacientes de todos los grupos, desde el nacimiento hasta la muerte, que padecen malformaciones cong\u00e9nitas y discapacidad intelectual.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">El TUH es el \u00fanico hospital universitario de Estonia. Desempe\u00f1a un papel fundamental en los estudios de medicina, tanto de grado como de posgrado. Como hospital universitario de referencia, todo su personal est\u00e1 capacitado para supervisar a los estudiantes y residentes de la Facultad de Medicina, a los estudiantes de enfermer\u00eda y a los compa\u00f1eros de otros hospitales.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">La tercera parte, sin duda importante, es la investigaci\u00f3n. Adem\u00e1s de las tareas cotidianas de atender a los pacientes y formar a los futuros especialistas m\u00e9dicos, la TUH integra su labor con la investigaci\u00f3n cient\u00edfica. La formaci\u00f3n y la investigaci\u00f3n se llevan a cabo en estrecha colaboraci\u00f3n con la Facultad de Medicina. Tanto la Facultad de Medicina de la Universidad como el Hospital Universitario son ampliamente conocidos por sus ensayos cl\u00ednicos y su investigaci\u00f3n cl\u00ednica en el \u00e1mbito de la salud humana. Adem\u00e1s, la estrecha colaboraci\u00f3n entre la Universidad y el Hospital Universitario genera una sinergia mutua entre la investigaci\u00f3n precl\u00ednica y la cl\u00ednica.<\/p>","protected":false},"featured_media":0,"template":"","tags":[],"country":[54],"center-status":[15],"class_list":["post-374","expert-centers","type-expert-centers","status-publish","hentry","country-estonia","center-status-full-member"],"acf":{"name-city":"Tartu Center","representative":"Dr Kai Muru ","latitude":"58.377625 ","longitude":"26.729006","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 Tartu 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\/es\/about-us\/expert-centers\/ern-ithaca-tartu-center\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ERN-ITHACA \u2013 Tartu Center - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"Tartu University HospitalL. Puusepa 1aTartu 50406ESTONIA Lead Dr Kristi Tael kristi.tael@kliinikum.ee +372 7319491 Katrin \u00d5unap Katrin.ounap@kliinikum.ee +372 7319491 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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