{"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\/es\/education\/mooc-diagnosis-rare-diseases\/","title":{"rendered":"MOOC \u201cDiagn\u00f3stico de enfermedades raras\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 colabora con la Fundaci\u00f3n Maladies Rares y EDERA en el curso en l\u00ednea masivo y abierto (MOOC) sobre \u201c<a href=\"https:\/\/www.futurelearn.com\/courses\/rare-genetic-disease\">El diagn\u00f3stico de las enfermedades raras: de la cl\u00ednica a la investigaci\u00f3n y viceversa<\/a>\u201c.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><em>En este contexto, estamos buscando, para el curso 2024-2025, m\u00e9dicos j\u00f3venes que colaboren con el MOOC como mentores de los estudiantes, organizando sesiones de preguntas y respuestas, tambi\u00e9n conocidas como \u00absesiones de facilitaci\u00f3n\u00bb. Se recompensar\u00e1 el esfuerzo realizado. Si est\u00e1s interesado, ponte en contacto con 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\">Inf\u00f3rmate sobre el diagn\u00f3stico de las enfermedades raras, las pruebas gen\u00e9ticas y la investigaci\u00f3n diagn\u00f3stica<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Alrededor de 30 millones de personas en Europa padecen una enfermedad gen\u00e9tica rara (una enfermedad que afecta a menos de 1 de cada 2.000 personas).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Este curso ofrece un an\u00e1lisis de las cuestiones clave relacionadas con la investigaci\u00f3n diagn\u00f3stica de las enfermedades raras y los retos actuales, as\u00ed como una visi\u00f3n de las experiencias de los pacientes.<\/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\">Inf\u00f3rmate sobre el diagn\u00f3stico y las pruebas de las enfermedades gen\u00e9ticas raras<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">En las \u00faltimas dos d\u00e9cadas se han logrado grandes avances en el diagn\u00f3stico de enfermedades gen\u00e9ticas raras.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Descubrir\u00e1s m\u00e1s sobre los avances logrados gracias a la investigaci\u00f3n diagn\u00f3stica, as\u00ed como sobre los tipos de pruebas gen\u00e9ticas disponibles para las enfermedades raras y el impacto que tiene el hecho de contar con un diagn\u00f3stico \u2014o carecer de \u00e9l\u2014 en la vida de los pacientes.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Explorar\u00e1s cuestiones clave relacionadas con las enfermedades gen\u00e9ticas raras y llevar\u00e1s a cabo tu propia investigaci\u00f3n en Internet sobre varios temas relacionados con la investigaci\u00f3n diagn\u00f3stica.<\/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\">Comprender el impacto de la tecnolog\u00eda en la investigaci\u00f3n diagn\u00f3stica<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">La tecnolog\u00eda desempe\u00f1a un papel importante en el diagn\u00f3stico de las enfermedades raras.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Como parte de este curso, explorar\u00e1s los avances tecnol\u00f3gicos en la investigaci\u00f3n m\u00e9dica y el diagn\u00f3stico de enfermedades raras, y descubrir\u00e1s la importancia del intercambio de datos, as\u00ed como el papel de la tecnolog\u00eda a la hora de comprender el genoma humano.<\/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\">Conocer mejor las experiencias de los pacientes con enfermedades gen\u00e9ticas raras<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Este curso tambi\u00e9n te ofrece la oportunidad de conocer mejor la vida de los pacientes que padecen una enfermedad gen\u00e9tica rara.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Adem\u00e1s, ponentes invitados del \u00e1mbito de las enfermedades raras hablar\u00e1n sobre sus proyectos de investigaci\u00f3n actuales y compartir\u00e1n informaci\u00f3n derivada de su trabajo directo con los pacientes.<\/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\">\u00bfQu\u00e9 vas a conseguir?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Al finalizar el curso, ser\u00e1s capaz de\u2026<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Explica los principales modos de herencia gen\u00e9tica.<\/li>\n\n\n\n<li>Describe qu\u00e9 es una enfermedad rara y cu\u00e1l es su impacto m\u00e1s all\u00e1 del \u00e1mbito m\u00e9dico.<\/li>\n\n\n\n<li>Comprender c\u00f3mo se diagnostican las enfermedades raras en el \u00e1mbito m\u00e9dico<\/li>\n\n\n\n<li>Explica las consecuencias que tiene para los pacientes con enfermedades raras y sus familias el hecho de contar o no con un diagn\u00f3stico.<\/li>\n\n\n\n<li>Explica qu\u00e9 es una \u00abodisea diagn\u00f3stica\u00bb.<\/li>\n\n\n\n<li>Evaluar qu\u00e9 pruebas gen\u00e9ticas son las m\u00e1s adecuadas para un caso cl\u00ednico concreto<\/li>\n\n\n\n<li>Identificar las aplicaciones adecuadas de las tecnolog\u00edas de secuenciaci\u00f3n de nueva generaci\u00f3n (NGS) en determinados casos cl\u00ednicos concretos, tanto en el \u00e1mbito diagn\u00f3stico como en el de la investigaci\u00f3n.<\/li>\n\n\n\n<li>Entender qu\u00e9 son las variantes de significado incierto (VUS) y la reevaluaci\u00f3n cl\u00ednica<\/li>\n\n\n\n<li>Describe c\u00f3mo ha evolucionado el campo del diagn\u00f3stico de las enfermedades raras durante la \u00faltima d\u00e9cada.<\/li>\n\n\n\n<li>Explora algunas herramientas de bioinform\u00e1tica y predicci\u00f3n, as\u00ed como su utilidad en el diagn\u00f3stico de enfermedades raras<\/li>\n\n\n\n<li>Reflexiona sobre algunos retos \u00e9ticos, personales y sociales que surgen a la hora de diagnosticar enfermedades raras.<\/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>AQU\u00cd<\/strong><\/a> para inscribirte en el curso.<\/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\/es\/education\/mooc-diagnosis-rare-diseases\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\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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