{"id":8227,"date":"2025-09-26T11:12:45","date_gmt":"2025-09-26T09:12:45","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=news&#038;p=8227"},"modified":"2025-09-26T11:12:45","modified_gmt":"2025-09-26T09:12:45","slug":"virtual-research-workshop-on-oct-22-registration-open","status":"publish","type":"news","link":"https:\/\/ern-ithaca.eu\/de\/events-news\/news\/virtual-research-workshop-on-oct-22-registration-open\/","title":{"rendered":"Virtual research Workshop on oct. 22: registration open!"},"content":{"rendered":"<p class=\"wp-block-paragraph\">We are pleased to invite you to the upcoming <strong>Research Workshop<\/strong>, organized by Marco tartaglia and Zeynep Tumer of the <strong>ERN-ITHACA Research Workgroup<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">This workshop will present 12 open calls for collaboration from the ERN and will discuss how to strengthen interactions and identify possible synergies.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\ud83d\uddd3\ufe0f <strong>Date &amp; Time:<\/strong> 22 October, 14:00-17:30<br>\ud83d\udccd <strong>Location:<\/strong> Online<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Anmeldeformular: <a href=\"https:\/\/forms.office.com\/e\/EXFr6CCJ6w \">https:\/\/forms.office.com\/e\/EXFr6CCJ6w <\/a><\/p>\n\n\n\n<div style=\"height:51px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Meeting Program<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">14:00 Marco Tartaglia and Zeynep Tumer, Chairs of the ERN-ITHACA Workgroup<br><strong>Welcome<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">14:05 Silvestre Cuinat, Lyon, France<br><strong>RNU4ATAC-opathies<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">14:20 Alessandro De Falco, Naples, Italy<br><strong>9q34.11 microduplications encompassing SET gene are associated with neurodevelopmental disorder and recurrent dysmorphisms<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">14:35 Gianluca Contr\u00f2, Livia Garavelli, Reggio Emilia, Italy<br><strong>ZMYND11-related disorder: clinical phenotype and DNA methylation profiling&#8221;<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">14:50 Barbara Vona, G\u00f6ttingen, Germany<br><strong>Bridging Known and Novel Disorders: Genetic and Collaborative Advances in the 55LCC Complex<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">15:05 Juan dario Ortigoza Escobar, Barcelona, Spain<br><strong>GPCR pathway genes and neurodevelopmental disorders<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">15:20 Jamal Ghoumid, Lille, France<br><strong>Prenatal Detection and Longitudinal Management of Blepharocheilodontic Syndrome: An Expanded Clinical Framework for CDH1 and CTNND1 Disorders<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">15:35 Break<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">15:45 Andrea Superti-Furga, Sheila Unger, Losanna, Swizerland &amp; Livia Garavelli, Francesca Peluso, Reggio Emilia, Italy<br><strong>Expanding the phenotypic and genotypic spectrum of TIMES syndrome, a LRRC8C-related disorder.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">16:00 Laura Batlle Mas\u00f3, Barcelona, Spain<br><strong>Exploring the immune phenotype of patients with ZNF148 genetic variants<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">16:15 Alban Ziegler, Angers, France<br><strong>LMBRD2 natural history: a path toward developing personalized antisense oligonucleotides.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">16:30 Val\u00e9rie Chu, Montr\u00e9al, Canada<br><strong>Natural History of RARB-related disorders: Towards Clinical Trials<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">16:45 Uriel Bensabath, Paris, France<br><strong>Wiedemann-Steiner syndrome in adults<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">17:00 Andr\u00e9 Miguel Ramos Travessa, Andr\u00e9 Abreu, Lisboa, Portugal<br><strong>Clinical and molecular characterization with genotype-phenotype correlation in patients with acrodysostosis<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">17:15 Marco Tartaglia and Zeynep Tumer<br><strong>Schlussworte<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>","protected":false},"excerpt":{"rendered":"<p>We are pleased to invite you to the upcoming Research Workshop, organized by Marco tartaglia and Zeynep Tumer of the ERN-ITHACA Research Workgroup. This workshop will present 12 open calls for collaboration from the ERN and will discuss how to strengthen interactions and identify possible synergies.&nbsp; \ud83d\uddd3\ufe0f Date &amp; Time: 22 October, 14:00-17:30\ud83d\udccd Location: Online [&hellip;]<\/p>\n","protected":false},"featured_media":0,"template":"","categories":[],"tags":[],"class_list":["post-8227","news","type-news","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>Virtual research Workshop on oct. 22: registration open! - 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\/events-news\/news\/virtual-research-workshop-on-oct-22-registration-open\/\" \/>\n<meta property=\"og:locale\" content=\"de_DE\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Virtual research Workshop on oct. 22: registration open! - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"We are pleased to invite you to the upcoming Research Workshop, organized by Marco tartaglia and Zeynep Tumer of the ERN-ITHACA Research Workgroup. 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