{"id":415,"date":"2022-02-08T13:56:56","date_gmt":"2022-02-08T12:56:56","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&#038;p=415"},"modified":"2022-02-23T13:55:50","modified_gmt":"2022-02-23T12:55:50","slug":"ern-ithaca-pecs-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/fr\/about-us\/expert-centers\/ern-ithaca-pecs-center\/","title":{"rendered":"ERN-ITHACA \u2013 P\u00e8cs Center"},"content":{"rendered":"<p class=\"wp-block-paragraph\">Department of Medical Genetics<br>Clinical Center \u2013 University of P\u00e9cs<br>Szigeti 12<br>H-7624 PECS<br>HUNGARY<\/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\" href=\"http:\/\/aok.pte.hu\/index.php?page=egyseg&amp;nyelv=hun&amp;egy_id=200&amp;egy=200\/\">Site web<\/a><\/div>\n<\/div>\n\n\n\n<div style=\"height:26px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/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%\">\n<figure class=\"wp-block-image size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Kinga-Hadzsiev.jpg\" alt=\"\" class=\"wp-image-1082\" width=\"144\" height=\"144\"\/><\/figure>\n<\/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 Kinga HADZSIEV<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>T\u00e9l\u00e9phone<\/strong>: +36 72 536 427<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Fax<\/strong>: +36 72 536 032<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:26px\" 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\">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\"><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><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><\/ul>\n\n\n\n<div style=\"height:26px\" 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\">The scope of our patient care activities includes the recognition of both the discrepancies leading to abnormalities of the genome and the developing pathological processes, as well as the early identification of individuals and families at risk, and upon the identification of the genetic defect the preventive care of the affected family members, prevention of mental and physical retardation of those born with genetic disorders in addition to the rehabilitation of such patients.<\/p>\n\n\n\n<div style=\"height:26px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"organization-of-the-ithaca-ern-pecs\">Organisation du Centre <\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">The University of P\u00e9cs was founded by King Louis the Great in 1367, as the first university in Hungary. Today, this University is one of the largest institutions of higher education in Hungary with the widest spectrum of teaching and research activities. The Clinical Center of the University is a regional center for a population around1 million inhabitants, but \u2013 as one of the four Rare Disease Expert Center in Hungary since the ministerial appointment in June 2015 \u2013 for several diseases, including groups of rare and undiagnosed diseases its coverage is nationwide. The departments of the Clinical Center are traditionally involved in the diagnosis, prenatal diagnosis, follow up, rehabilitation and treatment (if available) of the developmental anomalies and\/or intellectual disability. The individual departments form a Rare Disease Center, which is a local umbrella network, with strong national and international affiliations (affiliate partner in Neuromics, member of UDNI \u2013 Undiagnosed Disease Network International). The coordinator of the Rare Disease Center is the Department of Medical Genetics, which is a diagnostic, treatment and research facility specialized in hereditary and acquired disorders of the human genome.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The Health Care Provider (HCP) is the Clinical Center of the University of P\u00e9cs with 21 departments and 8 institutions, these count over 1200 adult and 180 pediatric beds and around 1.7 million outpatient care. There are 1700 births\/year on the Department of Obstetrics and Gynecology. With the multidisciplinary and the wide range of expertise provide by the Clinical Center the HCP is involved in all field of the rare diseases management. Regrading to scope the ERN-ITHACA the following departments have outstanding role:<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>2 departments of medical genetics offering genetic counselling for children and adults and pregnant women with prenatal diagnostic unit.<\/li><\/ul>\n\n\n\n<ul class=\"wp-block-list\"><li>1 department of child neurology with experience in the management of different childhood epilepsy syndromes.<\/li><\/ul>\n\n\n\n<ul class=\"wp-block-list\"><li>1 department of child psychiatry offering care for ASD and ID patients (including inpatient unit)<\/li><\/ul>\n\n\n\n<ul class=\"wp-block-list\"><li>1 department of General Pediatric: endocrinology, cardiology, nephrology, gastroenterology, oncology and with surgical unit with specialized skills in orofacial and urogenital malformations and newborn surgery. 1 NICU with 20 beds.<\/li><\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Different specialized departments in adult care, including neurology, and the interventional services include neurosurgery as well and a brand new rehabilitation center with a wide spectrum of available treatment options.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Full technical support, including classic medical laboratories, medical imaging (T3 MRI), and electrophysiology, genetic and genomic investigations including array, NGS and mass spect facility.<\/p>","protected":false},"featured_media":0,"template":"","tags":[],"country":[57],"center-status":[15],"class_list":["post-415","expert-centers","type-expert-centers","status-publish","hentry","country-hungary","center-status-full-member"],"acf":{"name-city":"P\u00e8cs Centre","representative":"Kinga Hadzsiev","latitude":"46.072735 ","longitude":"18.232265","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 P\u00e8cs 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-pecs-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 P\u00e8cs Center - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"Department of Medical GeneticsClinical Center \u2013 University of P\u00e9csSzigeti 12H-7624 PECSHUNGARY Lead Dr Kinga HADZSIEV Telephone: +36 72 536 427 Fax: +36 72 536 032 Scope Our area of expertise as ITHACA European Reference Network (ERN) centre covers all syndromes exhibiting developmental anomalies and\/or intellectual disability (ID). About 1\/40 newborn has a congenital malformation (261\/10000 [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/ern-ithaca.eu\/fr\/about-us\/expert-centers\/ern-ithaca-pecs-center\/\" \/>\n<meta property=\"og:site_name\" content=\"ERN ITHACA\" \/>\n<meta property=\"article:modified_time\" content=\"2022-02-23T12:55:50+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Kinga-Hadzsiev.jpg\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:site\" content=\"@ERNIthaca\" \/>\n<meta name=\"twitter:label1\" content=\"Dur\u00e9e de lecture estim\u00e9e\" \/>\n\t<meta name=\"twitter:data1\" content=\"4 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/about-us\\\/expert-centers\\\/ern-ithaca-pecs-center\\\/\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/about-us\\\/expert-centers\\\/ern-ithaca-pecs-center\\\/\",\"name\":\"ERN-ITHACA \u2013 P\u00e8cs Center - ERN ITHACA\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/about-us\\\/expert-centers\\\/ern-ithaca-pecs-center\\\/#primaryimage\"},\"image\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/about-us\\\/expert-centers\\\/ern-ithaca-pecs-center\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/ern-ithaca.eu\\\/wp-content\\\/uploads\\\/2022\\\/02\\\/Kinga-Hadzsiev.jpg\",\"datePublished\":\"2022-02-08T12:56:56+00:00\",\"dateModified\":\"2022-02-23T12:55:50+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/about-us\\\/expert-centers\\\/ern-ithaca-pecs-center\\\/#breadcrumb\"},\"inLanguage\":\"fr-FR\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/ern-ithaca.eu\\\/about-us\\\/expert-centers\\\/ern-ithaca-pecs-center\\\/\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"fr-FR\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/about-us\\\/expert-centers\\\/ern-ithaca-pecs-center\\\/#primaryimage\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/wp-content\\\/uploads\\\/2022\\\/02\\\/Kinga-Hadzsiev.jpg\",\"contentUrl\":\"https:\\\/\\\/ern-ithaca.eu\\\/wp-content\\\/uploads\\\/2022\\\/02\\\/Kinga-Hadzsiev.jpg\"},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/about-us\\\/expert-centers\\\/ern-ithaca-pecs-center\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/ern-ithaca.eu\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"About us > Our EU expert centers\",\"item\":\"https:\\\/\\\/ern-ithaca.eu\\\/about-us\\\/expert-centers\\\/\"},{\"@type\":\"ListItem\",\"position\":3,\"name\":\"ERN-ITHACA \u2013 P\u00e8cs Center\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#website\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/\",\"name\":\"ERN ITHACA\",\"description\":\"WELCOME TO ERN-ITHACA WEBSITE!\",\"publisher\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/ern-ithaca.eu\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"fr-FR\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#organization\",\"name\":\"ERN-ITHACA\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"fr-FR\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/wp-content\\\/uploads\\\/2022\\\/02\\\/Logo-ERN-ITHACA.jpg\",\"contentUrl\":\"https:\\\/\\\/ern-ithaca.eu\\\/wp-content\\\/uploads\\\/2022\\\/02\\\/Logo-ERN-ITHACA.jpg\",\"width\":454,\"height\":172,\"caption\":\"ERN-ITHACA\"},\"image\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#\\\/schema\\\/logo\\\/image\\\/\"},\"sameAs\":[\"https:\\\/\\\/x.com\\\/ERNIthaca\",\"https:\\\/\\\/www.linkedin.com\\\/company\\\/ithaca-european-reference-network-on-congenital-malformations-ans-rare-intellectual-disability\\\/?viewAsMember=true\"]}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"ERN-ITHACA \u2013 P\u00e8cs Center - ERN ITHACA","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/ern-ithaca.eu\/fr\/about-us\/expert-centers\/ern-ithaca-pecs-center\/","og_locale":"fr_FR","og_type":"article","og_title":"ERN-ITHACA \u2013 P\u00e8cs Center - ERN ITHACA","og_description":"Department of Medical GeneticsClinical Center \u2013 University of P\u00e9csSzigeti 12H-7624 PECSHUNGARY Lead Dr Kinga HADZSIEV Telephone: +36 72 536 427 Fax: +36 72 536 032 Scope Our area of expertise as ITHACA European Reference Network (ERN) centre covers all syndromes exhibiting developmental anomalies and\/or intellectual disability (ID). About 1\/40 newborn has a congenital malformation (261\/10000 [&hellip;]","og_url":"https:\/\/ern-ithaca.eu\/fr\/about-us\/expert-centers\/ern-ithaca-pecs-center\/","og_site_name":"ERN ITHACA","article_modified_time":"2022-02-23T12:55:50+00:00","og_image":[{"url":"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Kinga-Hadzsiev.jpg","type":"","width":"","height":""}],"twitter_card":"summary_large_image","twitter_site":"@ERNIthaca","twitter_misc":{"Dur\u00e9e de lecture estim\u00e9e":"4 minutes"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"WebPage","@id":"https:\/\/ern-ithaca.eu\/about-us\/expert-centers\/ern-ithaca-pecs-center\/","url":"https:\/\/ern-ithaca.eu\/about-us\/expert-centers\/ern-ithaca-pecs-center\/","name":"ERN-ITHACA \u2013 P\u00e8cs Center - ERN ITHACA","isPartOf":{"@id":"https:\/\/ern-ithaca.eu\/#website"},"primaryImageOfPage":{"@id":"https:\/\/ern-ithaca.eu\/about-us\/expert-centers\/ern-ithaca-pecs-center\/#primaryimage"},"image":{"@id":"https:\/\/ern-ithaca.eu\/about-us\/expert-centers\/ern-ithaca-pecs-center\/#primaryimage"},"thumbnailUrl":"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Kinga-Hadzsiev.jpg","datePublished":"2022-02-08T12:56:56+00:00","dateModified":"2022-02-23T12:55:50+00:00","breadcrumb":{"@id":"https:\/\/ern-ithaca.eu\/about-us\/expert-centers\/ern-ithaca-pecs-center\/#breadcrumb"},"inLanguage":"fr-FR","potentialAction":[{"@type":"ReadAction","target":["https:\/\/ern-ithaca.eu\/about-us\/expert-centers\/ern-ithaca-pecs-center\/"]}]},{"@type":"ImageObject","inLanguage":"fr-FR","@id":"https:\/\/ern-ithaca.eu\/about-us\/expert-centers\/ern-ithaca-pecs-center\/#primaryimage","url":"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Kinga-Hadzsiev.jpg","contentUrl":"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Kinga-Hadzsiev.jpg"},{"@type":"BreadcrumbList","@id":"https:\/\/ern-ithaca.eu\/about-us\/expert-centers\/ern-ithaca-pecs-center\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/ern-ithaca.eu\/"},{"@type":"ListItem","position":2,"name":"About us > Our EU expert centers","item":"https:\/\/ern-ithaca.eu\/about-us\/expert-centers\/"},{"@type":"ListItem","position":3,"name":"ERN-ITHACA \u2013 P\u00e8cs Center"}]},{"@type":"WebSite","@id":"https:\/\/ern-ithaca.eu\/#website","url":"https:\/\/ern-ithaca.eu\/","name":"ERN ITHACA","description":"WELCOME TO ERN-ITHACA WEBSITE!","publisher":{"@id":"https:\/\/ern-ithaca.eu\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/ern-ithaca.eu\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"fr-FR"},{"@type":"Organization","@id":"https:\/\/ern-ithaca.eu\/#organization","name":"ERN-ITHACA","url":"https:\/\/ern-ithaca.eu\/","logo":{"@type":"ImageObject","inLanguage":"fr-FR","@id":"https:\/\/ern-ithaca.eu\/#\/schema\/logo\/image\/","url":"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Logo-ERN-ITHACA.jpg","contentUrl":"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Logo-ERN-ITHACA.jpg","width":454,"height":172,"caption":"ERN-ITHACA"},"image":{"@id":"https:\/\/ern-ithaca.eu\/#\/schema\/logo\/image\/"},"sameAs":["https:\/\/x.com\/ERNIthaca","https:\/\/www.linkedin.com\/company\/ithaca-european-reference-network-on-congenital-malformations-ans-rare-intellectual-disability\/?viewAsMember=true"]}]}},"_links":{"self":[{"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/expert-centers\/415","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/expert-centers"}],"about":[{"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/types\/expert-centers"}],"wp:attachment":[{"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/media?parent=415"}],"wp:term":[{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/tags?post=415"},{"taxonomy":"country","embeddable":true,"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/country?post=415"},{"taxonomy":"center-status","embeddable":true,"href":"https:\/\/ern-ithaca.eu\/fr\/wp-json\/wp\/v2\/center-status?post=415"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}