{"id":7183,"date":"2025-02-24T16:56:31","date_gmt":"2025-02-24T15:56:31","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=events&#038;p=7183"},"modified":"2025-02-25T15:42:00","modified_gmt":"2025-02-25T14:42:00","slug":"ern-ithaca-webinar-on-diagnosis-management-of-arid1b-associated-coffin-siris-syndrome-registration-still-open","status":"publish","type":"events","link":"https:\/\/ern-ithaca.eu\/fr\/events-news\/upcoming-events\/ern-ithaca-webinar-on-diagnosis-management-of-arid1b-associated-coffin-siris-syndrome-registration-still-open\/","title":{"rendered":"ERN-ITHACA Webinar on Diagnosis &amp; management of ARID1B Associated Coffin-Siris Syndrome \u2013 registration still open"},"content":{"rendered":"<p class=\"wp-block-paragraph\"><strong>Syndrome de Coffin-Siris<\/strong> (CSS) est un syndrome relativement fr\u00e9quent associ\u00e9 \u00e0 un retard de d\u00e9veloppement ou cognitif, caract\u00e9ris\u00e9 classiquement par des ongles petits ou absents, ainsi qu\u2019une apparence faciale distinctive, parmi plusieurs autres signes. Depuis la d\u00e9couverte de mutations dans le g\u00e8ne ARID1B, un composant du complexe de remodelage de la chromatine BAF, comme cause principale du syndrome, nos connaissances en mati\u00e8re de diagnostic, d\u2019\u00e9volution naturelle et de prise en charge se sont consid\u00e9rablement am\u00e9lior\u00e9es. Dans ce webinaire, nous souhaitons explorer ces avanc\u00e9es r\u00e9centes.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The webinar will be held on March 18 from 17h00 to 18h30<\/p>\n\n\n\n<div style=\"height:39px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Programme<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Bienvenue et pr\u00e9sentation&nbsp;<\/strong>\u2013 (17 h 00 \u2013 17 h 05)<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Intervenant : Andr\u00e9 Reis<\/li>\n\n\n\n<li>De : H\u00f4pital universitaire d'Erlangen, Erlangen, Allemagne<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Diagnostic clinique et mol\u00e9culaire chez l'enfant<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Intervenante : Georgia Vasileiou<\/li>\n\n\n\n<li>De : H\u00f4pital universitaire d'Erlangen, Erlangen, Allemagne<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Maladie li\u00e9e au g\u00e8ne ARID1B chez l'adulte<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Intervenant : Gijs Santen<\/li>\n\n\n\n<li>Source : Centre m\u00e9dical universitaire de Leyde, Leyde, Pays-Bas&nbsp;&nbsp;<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>CARE4ARID1B<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Intervenante : Dagmar Wieczorek<\/li>\n\n\n\n<li>Source : Facult\u00e9 de m\u00e9decine et H\u00f4pital universitaire de D\u00fcsseldorf, Allemagne&nbsp;<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Le point de vue du patient<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Conf\u00e9rencier : Gal Lazarus, docteur \u00e8s sciences.<\/li>\n\n\n\n<li>De : D\u00e9partement de psychologie, Universit\u00e9 h\u00e9bra\u00efque de J\u00e9rusalem, Isra\u00ebl<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><em>Temps r\u00e9serv\u00e9 \u00e0 la discussion&nbsp;<\/em><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Conclusion with speakers and moderator<\/strong>&nbsp;<\/p>\n\n\n\n<div style=\"height:39px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"wp-block-paragraph\"><strong><a href=\"https:\/\/events.teams.microsoft.com\/event\/6d3bda0e-dc99-4d30-8834-7920b8c8fa7c@2461c129-d44f-406d-a778-d1a3c4c1527c\">ICI <\/a>to register <\/strong><\/p>","protected":false},"featured_media":0,"template":"","categories":[],"tags":[],"class_list":["post-7183","events","type-events","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.7 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>ERN-ITHACA Webinar on Diagnosis &amp; management of ARID1B Associated Coffin-Siris Syndrome \u2013 registration still open - ERN ITHACA<\/title>\n<meta name=\"robots\" content=\"noindex, follow\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ERN-ITHACA Webinar on Diagnosis &amp; management of ARID1B Associated Coffin-Siris Syndrome \u2013 registration still open - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"Coffin-Siris syndrome (CSS) is a relatively frequent syndrome with developmental or cognitive delay, classically characterized by small or missing nails,and distinctive facial appearance, among several other signs. 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