{"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\/de\/about-us\/expert-centers\/ern-ithaca-tartu-center\/","title":{"rendered":"ERN-ITHACA \u2013 Zentrum von 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>Tartu University Hospital<\/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\">Website<\/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\">Blei<\/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>Dr 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\">Geltungsbereich<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Das Fachgebiet unseres Zentrums als Mitglied des europ\u00e4ischen Referenznetzwerks (ERN) \u201eITHACA\u201c umfasst alle Syndrome, die mit Entwicklungsst\u00f6rungen und\/oder einer geistigen Behinderung (ID) einhergehen. Etwa 1 von 40 Neugeborenen weist eine angeborene Fehlbildung auf (261 von 10.000 F\u00f6ten und Neugeborenen laut EuroCAt-Berichten), und 1 von 40 leidet unter einer geistigen Behinderung. Daher weisen 3 bis 5 von % aller Geburten eine Entwicklungsanomalie auf oder werden eine solche entwickeln, von denen mindestens 25\u201350 von % genetischen oder genomischen Ursprungs sind. Diese riesige Population stellt in Wirklichkeit eine Ansammlung einer sehr gro\u00dfen Anzahl von einzeln seltenen Erkrankungen dar, die eine extreme Vielfalt an Ursachen und Ph\u00e4notypen aufweisen. Der Zust\u00e4ndigkeitsbereich und das Fachgebiet dieses ITHACA-Zentrums umfassen:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u00fcber 5.500 dysmorphe und multiple angeborene Anomalien (MCA) (aufgef\u00fchrt in der London Dysmorphology Database), darunter \u00fcber 3.000 monogene Erkrankungen, alle Chromosomenanomalien (von denen die meisten nur mittels Array-Technologien nachweisbar sind), multifaktorielle, sporadische dysmorphologische Anomalien sowie Embryo-Fetopathien umweltbedingten Ursprungs<\/li>\n\n\n\n<li>>1500 monogenic and hundreds chromosomal forms of ID with or without associated autism spectrum disorder (ASD)<\/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\">Dienst am Patienten<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Genetics and Personalized Medicine Clinic of Tartu University Hospital includes three departments: the Department of Clinical Genetics, the Department of Laboratory Genetics, and the Department of Personalized Medicine. Department of Clinical Genetics offers consultations for children and adults, including diagnostic and follow-up consultations, carrier screening, genetic counseling, and prenatal testing. There are eleven clinical geneticists, six residents in clinical genetics, a nutritional therapist, social work coordinator, and five nurses working in the department.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Patients&#8217; multidisciplinary and interdisciplinary medical care is carried out through consultations with other specialists. In 2021 a new center for Orphan diseases was launched &#8211; Harvikhaiguste keskus (<a href=\"https:\/\/www.kliinikum.ee\/harvikhaigused\/\">https:\/\/www.kliinikum.ee\/harvikhaigused\/<\/a>) &#8211; where doctors, patients, and their families can refer with variable questions (mainly about diagnosis, follow-up, treatment, rehabilitation, social rights etc.) and multidisciplinary consultations are performed.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The clinical department interacts closely with molecular, cytogenetic, and metabolic diagnostic laboratories. The accredited diagnostic genetics laboratory performs molecular genetics, molecular cytogenetic, and cytogenetic testing. It applies state-of-the-art NGS-based approaches, including multi-gene panel testing and whole-exome sequencing. Regular combined staff meetings facilitate quality improvements and case-based discussions. We also have a research interest in undiagnosed patients. If the standard diagnostic workup does not identify a clear etiology, the consultee may be offered to participate in a research project focused on the identification of new inherited diseases.<\/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\">Organisation des Zentrums<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Tartu University Hospital (TUH) is the largest health care provider in Estonia. High-quality tertiary medical care is offered in nearly all specialties. TUH provides inpatient, outpatient, and community-based services to patients living all over Estonia and institutionalized, outpatient or e-medical services for visitors to the country or patients from other countries worldwide.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">TUH is the only medical institution in Estonia to provide genetic testing and genetic counseling in a wide range of clinical indications and all age groups. TUH provides medical care to patients in all groups, from birth to death, with congenital malformation and intellectual disability.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">TUH is the only academic hospital in Estonia. It plays a major role in undergraduate and postgraduate medical fields studies. As the leading teaching hospital, all the staff is trained to supervise students and residents from the Faculty of Medicine, nursing students, and colleagues from other hospitals.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The third undoubtedly important part is research. In addition to everyday duties of serving patients and teaching future medical specialists, TUH integrates work with scientific research. Education and research are undertaken in close collaboration with the Faculty of Medicine. Both Medical Faculty at the University and University Hospital are widely known for clinical trials and clinical research in human health. In addition, the tight cooperation between the University and the University Hospital creates mutual synergy between preclinical and clinical research.<\/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\/de\/about-us\/expert-centers\/ern-ithaca-tartu-center\/\" \/>\n<meta property=\"og:locale\" content=\"de_DE\" \/>\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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