{"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\/es\/about-us\/expert-centers\/ern-ithaca-pecs-center\/","title":{"rendered":"ERN-ITHACA \u2013 P\u00e8cs Center"},"content":{"rendered":"<p class=\"wp-block-paragraph\">Departamento de Gen\u00e9tica M\u00e9dica<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\/\">P\u00e1gina 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\">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-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>Tel\u00e9fono<\/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\">\u00c1mbito de aplicaci\u00f3n<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Nuestra especialidad, como centro de la Red de Referencia Europea (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 cada 16 nacimientos presentan o desarrollar\u00e1n una anomal\u00eda del desarrollo, de los 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\"><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><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><\/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\">Atenci\u00f3n a los pacientes<\/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\">Organizaci\u00f3n del centro <\/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\/es\/about-us\/expert-centers\/ern-ithaca-pecs-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 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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