{"id":6057,"date":"2024-10-25T11:29:46","date_gmt":"2024-10-25T09:29:46","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?page_id=6057"},"modified":"2024-10-28T11:54:22","modified_gmt":"2024-10-28T10:54:22","slug":"mooc-diagnosis-rare-diseases","status":"publish","type":"page","link":"https:\/\/ern-ithaca.eu\/it\/education\/mooc-diagnosis-rare-diseases\/","title":{"rendered":"MOOC \u201cDiagnosi delle malattie rare\u201d"},"content":{"rendered":"<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1900\" height=\"298\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2024\/10\/logo-1900x298.png\" alt=\"\" class=\"wp-image-6181\" srcset=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2024\/10\/logo-1900x298.png 1900w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2024\/10\/logo-600x94.png 600w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2024\/10\/logo-768x120.png 768w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2024\/10\/logo-1536x241.png 1536w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2024\/10\/logo-2048x321.png 2048w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2024\/10\/logo-1320x207.png 1320w\" sizes=\"auto, (max-width: 1900px) 100vw, 1900px\" \/><\/figure>\n\n\n\n<div style=\"height:41px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>ERN-ITHACA \u00e8 partner del corso online aperto su larga scala (MOOC) della Fondation Maladies Rares x EDERA sul tema \u201c<a href=\"https:\/\/www.futurelearn.com\/courses\/rare-genetic-disease\">Diagnosi delle malattie rare: dalla clinica alla ricerca e viceversa<\/a>\u201c.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><em>In questo contesto, nel 2024-2025 stiamo reclutando giovani medici che affianchino il MOOC in qualit\u00e0 di mentori per gli studenti, conducendo sessioni di domande e risposte, note anche come \u201cfinestre di facilitazione\u201d. L\u2019impegno sar\u00e0 ricompensato. Se siete interessati, contattate Anne: anne.hugon@aphp.fr<\/em><\/p>\n\n\n\n<div style=\"height:36px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Scopri tutto sulla diagnosi delle malattie rare, sui test genetici e sulla ricerca diagnostica<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">In Europa, circa 30 milioni di persone convivono con una malattia genetica rara (una malattia che colpisce meno di 1 persona su 2.000).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Questo corso offre un\u2019analisi delle questioni chiave relative alla ricerca diagnostica sulle malattie rare e alle problematiche attuali, oltre a fornire approfondimenti sulle esperienze dei pazienti.<\/p>\n\n\n\n<div style=\"height:36px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"learn-about-rare-genetic-disease-diagnosis-and-testing\">Scopri di pi\u00f9 sulla diagnosi e sui test relativi alle malattie genetiche rare<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Negli ultimi due decenni sono stati compiuti notevoli progressi nella diagnosi delle malattie genetiche rare.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Scoprirete di pi\u00f9 sui progressi compiuti grazie alla ricerca diagnostica, sui tipi di test genetici disponibili per le malattie rare e sull\u2019impatto che una diagnosi \u2013 o la sua assenza \u2013 ha sulla vita dei pazienti.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Esplorerai le questioni chiave relative alle malattie genetiche rare e condurrai una tua ricerca online su diversi argomenti relativi alla ricerca diagnostica.<\/p>\n\n\n\n<div style=\"height:36px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"understand-the-impact-of-technology-in-diagnostic-research\">Comprendere l'impatto della tecnologia nella ricerca diagnostica<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">La tecnologia svolge un ruolo significativo nella diagnosi delle malattie rare.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Nell\u2019ambito di questo corso, esplorerai i progressi tecnologici nella ricerca medica e nella diagnosi delle malattie rare e scoprirai l\u2019importanza della condivisione dei dati, nonch\u00e9 il ruolo della tecnologia nel contesto della comprensione del genoma umano.<\/p>\n\n\n\n<div style=\"height:36px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"gain-insights-into-patients-experiences-of-rare-genetic-disease\">Scopri di pi\u00f9 sulle esperienze dei pazienti affetti da malattie genetiche rare<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Questo corso ti offre inoltre l'opportunit\u00e0 di conoscere da vicino la vita dei pazienti affetti da una malattia genetica rara.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Interverranno inoltre relatori esterni esperti nel campo delle malattie rare, che illustreranno i loro attuali progetti di ricerca e condivideranno informazioni derivanti dalla loro esperienza diretta con i pazienti.<\/p>\n\n\n\n<div style=\"height:36px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Cosa riuscirai a ottenere?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Al termine del corso, sarai in grado di\u2026<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Spiegare le principali modalit\u00e0 di trasmissione genetica<\/li>\n\n\n\n<li>Descrivi cos\u2019\u00e8 una malattia rara e il suo impatto al di l\u00e0 dell\u2019ambito medico<\/li>\n\n\n\n<li>Comprendere come vengono diagnosticate le malattie rare in ambito medico<\/li>\n\n\n\n<li>Spiegare l'impatto che la presenza o l'assenza di una diagnosi ha sui pazienti affetti da malattie rare e sulle loro famiglie<\/li>\n\n\n\n<li>Spiega cos\u2019\u00e8 un\u2019odissea diagnostica<\/li>\n\n\n\n<li>Valutare quali test genetici siano i pi\u00f9 adatti per un determinato scenario clinico<\/li>\n\n\n\n<li>Individuare le applicazioni appropriate delle tecnologie NGS in alcuni scenari clinici specifici, sia in ambito diagnostico che di ricerca<\/li>\n\n\n\n<li>Capire cosa sono le varianti di significato incerto (VUS) e la rivalutazione clinica<\/li>\n\n\n\n<li>Descrivi come si \u00e8 evoluto il settore della diagnosi delle malattie rare nell'ultimo decennio<\/li>\n\n\n\n<li>Scopri alcuni strumenti di bioinformatica e di previsione e la loro utilit\u00e0 nella diagnosi delle malattie rare<\/li>\n\n\n\n<li>Rifletti su alcune sfide etiche, personali e sociali che sorgono nella diagnosi delle malattie rare<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.futurelearn.com\/courses\/rare-genetic-disease\"><strong>QUI<\/strong><\/a> per iscriversi al corso.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>","protected":false},"excerpt":{"rendered":"<p>ERN-ITHACA is partner of the Fondation Maladies Rares x EDERA Massive Open Online Course (MOOC) on &#8220;Diagnosing Rare Diseases: from the Clinic to Research and back&#8220;. In this context, we are recruting in 2024-2025 young doctors to support the MOOC as mentors for students, by conducting questions-and-answers periods, aka facilitations windows. Efforts will be rewarded. [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":6023,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-6057","page","type-page","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>MOOC &quot;Diagnosis Rare Diseases&quot; - 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\/it\/education\/mooc-diagnosis-rare-diseases\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"MOOC &quot;Diagnosis Rare Diseases&quot; - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"ERN-ITHACA is partner of the Fondation Maladies Rares x EDERA Massive Open Online Course (MOOC) on &#8220;Diagnosing Rare Diseases: from the Clinic to Research and back&#8220;. 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