{"id":2229,"date":"2022-10-11T12:28:16","date_gmt":"2022-10-11T10:28:16","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=news&#038;p=2229"},"modified":"2022-10-12T15:07:07","modified_gmt":"2022-10-12T13:07:07","slug":"multidisciplinary-fetal-diagnostics-winter-school","status":"publish","type":"news","link":"https:\/\/ern-ithaca.eu\/de\/events-news\/news\/multidisciplinary-fetal-diagnostics-winter-school\/","title":{"rendered":"Register now to the Multidisciplinary Fetal Diagnostics Winter School, December 7-8, Paris, FR"},"content":{"rendered":"<h2 class=\"wp-block-heading\">Inhalt<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Die von ERN-ITHACA organisierte Winterakademie zur Fetal-Diagnostik zielt darauf ab, eine Wissensl\u00fccke in den Bereichen fetale Ph\u00e4notypisierung, genetische Analyse und Dateninterpretation zu schlie\u00dfen. Als eint\u00e4giger Kurs umfasst sie Grundlagenvortr\u00e4ge und vertiefende Workshops zu den Themen Ph\u00e4notypisierung, pr\u00e4natale Genomtests und den Auswirkungen auf die genetische Beratung. Abschlie\u00dfend wird das Programm durch interdisziplin\u00e4re Fallbesprechungen eine Br\u00fccke zwischen den behandelten Fachgebieten schlagen.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Der Kurs richtet sich an Fach\u00e4rzte und Fach\u00e4rzte in der Ausbildung in den Bereichen klinische und Laborgeneetik, Bioinformatik, Geburtshilfe und Pathologie mit einem besonderen Interesse an der Pr\u00e4natalmedizin.<br>Das Programm bringt herausragende Wissenschaftler aus den ITHACA-Mitgliedsinstitutionen und kooperierenden Partnern aus den Bereichen Fetal- und M\u00fcttermedizin, fetale Bildgebung, fetale Pathologie und Humangenetik zusammen, damit die Teilnehmer in vollem Umfang von dem umfangreichen Fachwissen profitieren k\u00f6nnen.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The Winter School is adjunct to the \u201cBest of\u201d annual meeting of the French Society of Fetal pathology (SoFFoet &#8211; <a href=\"http:\/\/soffoet.fr\/\">http:\/\/soffoet.fr\/<\/a>) on Wednesday 07th December and students are invited also to join.<\/p>\n\n\n\n<div style=\"height:32px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Behandelte Hauptthemen<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">This first course provides an overview of the subject matter and methodological principles in the complex field of prenatal medicine. It includes an introduction to HPO and its application on fetal phenotypes, opportunities and limitations of fetal imaging and fetal pathology as well as prenatal clinical genetics in the area of genomic medicine.<\/p>\n\n\n\n<div style=\"height:32px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Lernziele<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Die Studierenden lernen den Umgang mit folgenden Themen:<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>Die M\u00f6glichkeiten der heutigen detaillierten Ph\u00e4notypisierung des F\u00f6tus<\/li><li>Die Komplexit\u00e4t genetischer Untersuchungen bei perinatalen Ph\u00e4notypen<\/li><li>Interpreting genomic results in fetal medicine<\/li><li>Importance of interdisciplinary work for family counselling<\/li><\/ul>\n\n\n\n<div style=\"height:32px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Praktische Informationen<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Format: Physical&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Dates: (07) &#8211; <strong>08 December 2022<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Location: Imagine Institute, Paris, France&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Sprache: Englisch<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Arbeitsaufwand f\u00fcr Studierende: 15 Stunden<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Unterrichtsstunden: 8<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Maximale Teilnehmerzahl: 60<\/p>\n\n\n\n<div style=\"height:32px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Get together on 07<sup>th<\/sup> of December at 6pm CET<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">The course takes place on 08<sup>th<\/sup> of December from 9am to 5pm CET<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">For further information or if you have any questions, please send an e-mail to: <a href=\"mailto:klea.vyshka@aphp.fr\"><strong>klea.vyshka@aphp.fr<\/strong><\/a><\/p>\n\n\n\n<div style=\"height:32px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Zeitplan<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Der Kurs besteht aus einer Mischung aus ausgew\u00e4hlten klassischen Vorlesungen, Workshops und Tutorien.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>&#8211; 07<sup>th<\/sup> of December<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">SOFFOET meeting (SoFFoet &#8211; http:\/\/soffoet.fr\/) \u2013 from 09.30 am \u2013 05.30 pm. To apply please fill in the form here: <a href=\"https:\/\/forms.gle\/1wWbVKHfn7agMVJp9\">https:\/\/forms.gle\/1wWbVKHfn7agMVJp9<\/a> before the 15th of November 2022.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Evening (06 pm):<strong> <\/strong>Welcome address by the Faculty members with buffet<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>&#8211; 08<sup>th<\/sup> of December<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong><em>Morning Session 1 &#8211; Lectures &#8211; Main Auditorium<\/em><\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The first session&nbsp;will include lectures on the main focuses of the course and give a state-of-the-art overview for the topics in preparation of the workshops.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Introduction to HPO &#8211; Peter Robinson<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Fetal imaging in the first and second trimester &#8211; Karl Oliver Kagan<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Fetal Pathology: the deepest fetal phenotyping &#8211; Sophie Collardeau-Frachon<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Prenatal Clinical Genetics &#8211; Isabel Filges<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong><em>Morning Session 2 \u2013&nbsp;Concurrent Workshops &#8211; Master classes \/ (Please select when applying):<\/em><\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Concurrent workshops are dedicated to deepen the focus for participants with solid basic knowledge using practical exercises \/ case studies<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a><\/a><a>\u201cHPO and related diagnostic tools\u201d <\/a>(Peter Robinson):<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Participants will learn how to use the Human Phenotype Ontology (HPO) to represent clinical findings for differential diagnosis. We will use two freely available online tools \u2013 the Phenomizer for differential diagnosis and the Exomiser for HPO-based prioritization of variants in exome or genome sequencing. Laptops are required. Main audience: Geneticists<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a>\u201cFrom imaging to diagnosis\u201d (Karl Oliver Kagan and geneticist)<\/a>:<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Participants will learn about ultrasound markers for chromosomal abnormalities and genetic defects and the appropriate method of clarification.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Main audience: MFM specialists in training<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a>\u201cFetal syndromology: don\u2019t miss it!\u201d (Robert Debr\u00e9 Team<\/a> \u2013 Fabien Guimiot, Suonavy Khung, Marie-H\u00e9l\u00e8ne Saint Frison):<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Participants will learn the benefice and input of fetal pathology for the diagnosis of genetic disorders. Case discussion will allow to point specific signs that should not be missed in selected conditions.&nbsp;<br>Main audience: Pathologists, Fetal Pathologists in training<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong><em>Afternoon Session 1 + 2 &#8211;&nbsp;Workshops<\/em><\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Die Workshops sollen den Teilnehmern anhand praktischer \u00dcbungen und Fallstudien, die auf den Einf\u00fchrungsvorlesungen aufbauen, ein Verst\u00e4ndnis f\u00fcr die Spezialgebiete der jeweiligen anderen Disziplinen vermitteln.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The focus of each workshop is designed to match the expertise of the participants in each of the other masterclasses.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u201cHow to use HPO\u201d (Peter Robinson):<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The participants will learn to convert clinical descriptions into HPO terms.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u201cFrom imaging to diagnosis\u201d (Karl Oliver Kagan and geneticist):<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The participants will learn about the interaction between the fetal medicine experts and the geneticists.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u201cWhy fetal pathology is important\u201d (Tania Atti\u00e9-Bitach &amp; Isabel Filges):&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;<br>With interactive case discussions and active participation from the audience, the participants will learn what fetal pathology can bring as compared to prenatal imaging, how it can orient the diagnosis, help genetic interpretation of variants, and contribute to the description of prenatal signs or rare disorders.<\/p>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"1012\" height=\"570\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/10\/image.png\" alt=\"\" class=\"wp-image-2227\" srcset=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/10\/image.png 1012w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/10\/image-600x338.png 600w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/10\/image-768x433.png 768w\" sizes=\"auto, (max-width: 1012px) 100vw, 1012px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><strong><em>Evening Session \u2013&nbsp;Use Case Discussion \/ Case presentation (Main Auditorium):<\/em><\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The faculty together with the participants will discuss selected submitted cases.<\/p>\n\n\n\n<div style=\"height:32px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Bewerbungsverfahren<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Applicants should fill in the&nbsp;application form for the Winter School here: <a href=\"https:\/\/forms.office.com\/r\/hvzHxsrnCN\">https:\/\/forms.office.com\/r\/hvzHxsrnCN<\/a>. The application deadline is <strong>October 31, 2022<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Selected students will be notified by <strong>November 05, 2022.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">This course&nbsp;will be held at Imagine Institute (<a href=\"https:\/\/www.institutimagine.org\/fr\">https:\/\/www.institutimagine.org\/fr<\/a>). Participating students might be asked to provide COVID-19 immunization proof when entering the location depending on the regulations in force in December.<\/p>\n\n\n\n<div style=\"height:32px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Reisekosten, Unterkunft und Geb\u00fchren<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Participants are expected to organise their own travel and accommodation. A limited number of scholarships is available only for participants whose employing institution cannot cover these costs (please see the application form to the Winter School for more information). The participation to the course is free of charge.<\/p>\n\n\n\n<div style=\"height:32px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Fakult\u00e4t<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Tania Attie-Bitach &#8211; Department of Genomics of Rare Diseases, Necker-Enfants Malades University Hospital, Paris<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Sophie Collardeau-Frachon&nbsp;&#8211; Department of Pathology, Claude Bernard University Hospital, Lyon<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Andreas Dufke &#8211; Institute of Medical Genetics and Applied Genomics, University Hospital, T\u00fcbingen<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Isabel Filges &#8211; Medical Genetics, University Hospital Basel and University of Basel<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Fabien Guimiot &#8211; Fetal Pathology Unit, Department of Genetics, Robert Debr\u00e9 University Hospital, Paris<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Karl Kagan &#8211; Women University Hospital, T\u00fcbingen<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Suonavy Khung &#8211; Fetal Pathology Unit, Department of Genetics, Robert Debr\u00e9 University Hospital, Paris<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Peter Robinson &#8211; The Jackson Laboratory for Genomic Medicine, Farmington<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Marie-H\u00e9l\u00e8ne Saint Frison &#8211; Fetal Pathology Unit, Department of Genetics, Robert Debr\u00e9 University Hospital, Paris<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Gijs Santen \u2013 Medizinisches Zentrum der Universit\u00e4t Leiden, Leiden<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Klea Vyshka \u2013 Projektmanagerin und Rechtsreferentin ERN ITHACA, Abteilung f\u00fcr Klinische Genetik, Universit\u00e4tsklinikum Robert Debr\u00e9, Paris<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>","protected":false},"excerpt":{"rendered":"<p>Content The Winter School on Fetal Diagnosis organised by the ERN-ITHACA aims to address a learning gap in fetal phenotyping, genetic analysis, and data interpretation. As a single-day course it will include basic lectures and in depth-workshops on phenotyping, prenatal genomic testing, and the implications for genetic counselling. To finalize, the program will bridge the [&hellip;]<\/p>\n","protected":false},"featured_media":0,"template":"","categories":[150],"tags":[],"class_list":["post-2229","news","type-news","status-publish","hentry","category-ern-ithaca-event"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.7 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Register now to the Multidisciplinary Fetal Diagnostics Winter School, December 7-8, Paris, FR - 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\/news\/multidisciplinary-fetal-diagnostics-winter-school\/\" \/>\n<meta property=\"og:locale\" content=\"de_DE\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Register now to the Multidisciplinary Fetal Diagnostics Winter School, December 7-8, Paris, FR - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"Content The Winter School on Fetal Diagnosis organised by the ERN-ITHACA aims to address a learning gap in fetal phenotyping, genetic analysis, and data interpretation. As a single-day course it will include basic lectures and in depth-workshops on phenotyping, prenatal genomic testing, and the implications for genetic counselling. To finalize, the program will bridge the [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/ern-ithaca.eu\/de\/news\/multidisciplinary-fetal-diagnostics-winter-school\/\" \/>\n<meta property=\"og:site_name\" content=\"ERN ITHACA\" \/>\n<meta property=\"article:modified_time\" content=\"2022-10-12T13:07:07+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/10\/image.png\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:site\" content=\"@ERNIthaca\" \/>\n<meta name=\"twitter:label1\" content=\"Gesch\u00e4tzte Lesezeit\" \/>\n\t<meta name=\"twitter:data1\" content=\"5\u00a0Minuten\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/news\\\/multidisciplinary-fetal-diagnostics-winter-school\\\/\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/news\\\/multidisciplinary-fetal-diagnostics-winter-school\\\/\",\"name\":\"Register now to the Multidisciplinary Fetal Diagnostics Winter School, December 7-8, Paris, FR - 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As a single-day course it will include basic lectures and in depth-workshops on phenotyping, prenatal genomic testing, and the implications for genetic counselling. 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