{"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\/fr\/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\">Contenu<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">L'universit\u00e9 d'hiver sur le diagnostic f\u0153tal, organis\u00e9e par le ERN-ITHACA, vise \u00e0 combler une lacune dans les connaissances en mati\u00e8re de ph\u00e9notypage f\u0153tal, d'analyse g\u00e9n\u00e9tique et d'interpr\u00e9tation des donn\u00e9es. Ce stage d'une journ\u00e9e comprendra des cours magistraux de base et des ateliers approfondis sur le ph\u00e9notypage, les tests g\u00e9nomiques pr\u00e9nataux et leurs implications pour le conseil g\u00e9n\u00e9tique. Pour conclure, le programme fera le lien entre les domaines abord\u00e9s gr\u00e2ce \u00e0 des discussions de cas interdisciplinaires.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Cette formation s'adresse aux sp\u00e9cialistes et aux sp\u00e9cialistes en formation dans les domaines de la g\u00e9n\u00e9tique clinique et de laboratoire, de la bio-informatique, de l'obst\u00e9trique et de la pathologie, qui s'int\u00e9ressent tout particuli\u00e8rement \u00e0 la m\u00e9decine pr\u00e9natale.<br>Ce programme rassemble d'\u00e9minents chercheurs issus des institutions affili\u00e9es au programme ITHACA et de ses partenaires collaborateurs dans les domaines de la m\u00e9decine f\u0153to-maternelle, de l'imagerie f\u0153tale, de la pathologie f\u0153tale et de la g\u00e9n\u00e9tique humaine, afin que les participants puissent tirer pleinement parti de cette vaste expertise.<\/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\">Principaux th\u00e8mes abord\u00e9s<\/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\">Acquis d'apprentissage<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Les \u00e9tudiants apprendront \u00e0 g\u00e9rer :<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>Les possibilit\u00e9s offertes aujourd\u2019hui par le ph\u00e9notypage f\u0153tal approfondi<\/li><li>La complexit\u00e9 des \u00e9tudes g\u00e9n\u00e9tiques portant sur les ph\u00e9notypes p\u00e9rinataux<\/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\">Informations pratiques<\/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\">Langue : anglais<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Charge de travail des \u00e9tudiants : 15 heures<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Heures de cours : 8<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Nombre maximal de participants : 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>e<\/sup> of December at 6pm CET<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">The course takes place on 08<sup>e<\/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\">Calendrier<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Le cours comprendra un m\u00e9lange de cours magistraux traditionnels s\u00e9lectionn\u00e9s, d'ateliers et de travaux dirig\u00e9s.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>&#8211; 07<sup>e<\/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>e<\/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\">Les ateliers ont pour objectif de permettre aux \u00e9tudiants de mieux comprendre les sp\u00e9cialisations des autres disciplines gr\u00e2ce \u00e0 des exercices pratiques et des \u00e9tudes de cas s'appuyant sur les cours magistraux d'introduction.<\/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\">Proc\u00e9dure de candidature<\/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\">Frais de d\u00e9placement, d'h\u00e9bergement et d'inscription<\/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\">Corps enseignant<\/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 Centre m\u00e9dical universitaire de Leyde, Leyde<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Klea Vyshka \u2013 Cheffe de projet et responsable juridique ERN ITHACA, Service de g\u00e9n\u00e9tique clinique, H\u00f4pital universitaire 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\/fr\/news\/multidisciplinary-fetal-diagnostics-winter-school\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\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\/fr\/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=\"Dur\u00e9e de lecture estim\u00e9e\" \/>\n\t<meta name=\"twitter:data1\" content=\"5 minutes\" \/>\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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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\/news\/multidisciplinary-fetal-diagnostics-winter-school\/","og_locale":"fr_FR","og_type":"article","og_title":"Register now to the Multidisciplinary Fetal Diagnostics Winter School, December 7-8, Paris, FR - ERN ITHACA","og_description":"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. 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