{"id":455,"date":"2022-02-09T13:56:06","date_gmt":"2022-02-09T12:56:06","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&#038;p=455"},"modified":"2024-11-12T13:43:02","modified_gmt":"2024-11-12T12:43:02","slug":"ern-ithaca-warzawa-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/fr\/about-us\/expert-centers\/ern-ithaca-warzawa-center\/","title":{"rendered":"ERN-ITHACA \u2013 Centre de Varsovie"},"content":{"rendered":"<figure class=\"wp-block-image size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/IPCZD-Warsaw-Poland-ERN-ITHACA-1.jpg\" alt=\"\" class=\"wp-image-2036\" width=\"709\" height=\"532\" srcset=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/IPCZD-Warsaw-Poland-ERN-ITHACA-1.jpg 960w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/IPCZD-Warsaw-Poland-ERN-ITHACA-1-600x450.jpg 600w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/IPCZD-Warsaw-Poland-ERN-ITHACA-1-768x576.jpg 768w\" sizes=\"auto, (max-width: 709px) 100vw, 709px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>The Children&#8217;s Memorial Health Institute<\/strong><br>Department of Medical Genetics<br>Aleja Dzieci Polskich 20<br>04-730 Warsaw<br>POLAND<\/p>\n\n\n\n<div style=\"height:28px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\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=\"https:\/\/www.czd.pl\/\">Site web<\/a><\/div>\n<\/div>\n\n\n\n<div style=\"height:28px\" 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\/Krystyna-Chrzanowska-ERN-ITHACA-Warsaw-Poland-1.png\" alt=\"\" class=\"wp-image-2038\" width=\"138\" height=\"205\"\/><\/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>Prof. Dr. Krystyna Chrzanowska<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>T\u00e9l\u00e9phone<\/strong>: +48 22 815 74 52<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Fax<\/strong>: +48 22 815 74 57<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>E-mail :<\/strong>  genetyka@ipczd.pl <\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:28px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Team<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Dr Agnieszka Madej-Pilarczyk \u2013 clinical geneticist, internal medicine<br>Dr Dorota Wicher \u2013 clinical geneticist, pediatrician<br>Dr El\u017cbieta Ciara \u2013 molecular genetics<br>Dr Marlena M\u0142ynek &#8211; cytogenetics<\/p>\n\n\n\n<div style=\"height:28px\" 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\">The area of expertise of our Centre, The Children\u2019s Memorial Health Institute, as member of the ITHACA European Reference Network (ERN), covers all syndromes exhibiting developmental anomalies and\/or intellectual disability (ID). About 1\/40 newborn has a congenital malformation (261\/10000 fetuses and newborn following EuroCAT reports), and 1\/40 has ID. Therefore, 3 to 5 % of all human births show or will develop a developmental anomaly, among which at least 25-50% are of genetic or genomic origin. This huge population represents in reality the juxtaposition of a very large number of individually rare disorders showing an extreme diversity of causes and phenotypes. The jurisdiction and scope of expertise of The Children\u2019s Memorial Health Institute includes:<\/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:28px\" 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 Department of Medical Genetics (DMG) of the CMHI provides both diagnostics of a wide spectrum of rare genetic diseases\/syndromes to provide complete genetic counselling for families at risk, and on translational research aimed at unravelling physiologic and disordered molecular mechanisms leading to a disease, with the ultimate aim of improving patient care. Dysmorphic syndromes, with and without intellectual disability, inborn errors of metabolism, mitochondrial disorders, imprinting disorders, and chromosomal instability syndromes are of particular interest.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">DMG is composed of the Genetic Outpatient Clinic (GOC), Laboratory of Cytogenetics and Tissue Culture, and Laboratory of Molecular Genetics. Our team includes 10 medical doctors with specialization in clinical genetics and paediatrics\/internal medicine\/audiology\/endocrinology, 27 laboratory specialists with experience in cytogenetics, molecular genetics and bioinformatics. Patients referred to GOC are from Mazovian region (~67%) and from the rest of the country (~33%). Among consulted patients (over 6000\/year) 2\/3 are children and 1\/3 &#8211; adults. In the period 1980-2022 over 110 research projects were realized, and over 285 peer-reviewed papers were published (IF=1293). DMG has participated in several rare disease networks, including: Orphanet Europe, European Joined Programme for Rare Diseases, Dyscerne, RD Action.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Our laboratories are regularly certified by EMQN and Polish Society of Human Genetics, and offer a special expertise in diagnostics of rare congenital malformations, undiagnosed and rare intellectual disability, imprinting disorders, mitochondrial and metabolic diseases. Team of clinical geneticists (GOC) provides a holistic care for patients, including extended multidisciplinary team consultations in home (e.g. neurologist, cardiologist, endocrinologist, nephrologist, radiologist, psychologist, child psychiatrist, anthropologist dietician) and genetic counselling for families. DMG offers diagnostics for paediatric and adult patients, inside and outside of the CMHI, using various genetic techniques: cytogenetic, classic and molecular (MLPA, aCGH\/SNP), DNA sequencing (including Sanger and NGS, i.e. targeted diagnostic panels, WES, WGS), methylation analysis (MS-MLPA, SNuPE).<\/p>\n\n\n\n<div style=\"height:28px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"organization-of-the-ithaca-ern-name-of-the-center-center\">Organisation du Centre<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">The Children&#8217;s Memorial Health Institute (CMHI) is a research institute, and also one of the largest specialized paediatric hospitals in Poland acting for the benefit of modern paediatrics. It accepts patients from the whole country, as well as from abroad, who need a high level complex diagnostics and treatment. Our staff uses in everyday work the latest scientific achievements in the field of paediatrics, while taking into account the needs of patients and their families. We cover most of paediatric rare disorders and we strictly collaborate with other centres for rare disorders in Europe, both on clinical and research level. The aim of the Institute is to conduct research and development activities and to provide medical services focused on the health needs of children, adolescents and young adults, and the implementation of teaching tasks, adapting the results of research and development to the needs of the practice and implementation of their results. The Children&#8217;s Memorial Health Institute received the high A category of parametric comprehensive evaluation of the quality of scientific research. Our Hospital is audited for standard operating procedures every year, medical procedures are checked within the National Centre for Quality Control in Medicine. There are 8 paediatric departments that are members of the ERNs: ITHACA, EpiCare, ERKNet, PeadCan-ERN, RITA, TRANSCHILD, RARE-LIVER, MetabERN).<\/p>","protected":false},"featured_media":0,"template":"","tags":[],"country":[66],"center-status":[15],"class_list":["post-455","expert-centers","type-expert-centers","status-publish","hentry","country-poland","center-status-full-member"],"acf":{"name-city":"Warszawa Center","representative":"Pr Dr Krystyna Chrzanowska","latitude":"52.229676 ","longitude":"21.012229","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 Warsaw 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-warzawa-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 Warsaw Center - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"The Children&#8217;s Memorial Health InstituteDepartment of Medical GeneticsAleja Dzieci Polskich 2004-730 WarsawPOLAND Lead Prof. Dr. Krystyna Chrzanowska Telephone: +48 22 815 74 52 Fax: +48 22 815 74 57 Mail: genetyka@ipczd.pl Team Dr Agnieszka Madej-Pilarczyk \u2013 clinical geneticist, internal medicineDr Dorota Wicher \u2013 clinical geneticist, pediatricianDr El\u017cbieta Ciara \u2013 molecular geneticsDr Marlena M\u0142ynek &#8211; cytogenetics [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/ern-ithaca.eu\/fr\/about-us\/expert-centers\/ern-ithaca-warzawa-center\/\" \/>\n<meta property=\"og:site_name\" content=\"ERN ITHACA\" \/>\n<meta property=\"article:modified_time\" content=\"2024-11-12T12:43:02+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/IPCZD-Warsaw-Poland-ERN-ITHACA-1.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"960\" \/>\n\t<meta property=\"og:image:height\" content=\"720\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\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=\"2 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-warzawa-center\\\/\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/about-us\\\/expert-centers\\\/ern-ithaca-warzawa-center\\\/\",\"name\":\"ERN-ITHACA \u2013 Warsaw Center - 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