{"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\/fr\/about-us\/expert-centers\/ern-ithaca-tartu-center\/","title":{"rendered":"ERN-ITHACA \u2013 Centre 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>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\">Site 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\">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-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\">Champ d'application<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">En tant que membre du R\u00e9seau europ\u00e9en de r\u00e9f\u00e9rence (ERN) ITHACA, notre centre est sp\u00e9cialis\u00e9 dans 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 plusieurs 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<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\">Service aux patients<\/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 du centre<\/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\/fr\/about-us\/expert-centers\/ern-ithaca-tartu-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 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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