{"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\/de\/about-us\/expert-centers\/ern-ithaca-pecs-center\/","title":{"rendered":"ERN-ITHACA \u2013 P\u00e8cs Center"},"content":{"rendered":"<p class=\"wp-block-paragraph\">Abteilung f\u00fcr Medizinische Genetik<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\/\">Website<\/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\">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-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>Telefon<\/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\">Geltungsbereich<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Unser Fachgebiet als Zentrum des europ\u00e4ischen Referenznetzwerks (ERN) ITHACA 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 hat eine geistige 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\"><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><li>&gt;1.500 monogene und Hunderte chromosomale Formen der geistigen Behinderung mit oder ohne begleitende Autismus-Spektrum-St\u00f6rung (ASD).<\/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\">Dienst am Patienten<\/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 des Zentrums <\/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\/de\/about-us\/expert-centers\/ern-ithaca-pecs-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 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). 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