{"id":2419,"date":"2018-02-28T00:00:00","date_gmt":"2018-02-28T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2419"},"modified":"2018-02-28T00:00:00","modified_gmt":"2018-02-28T00:00:00","slug":"iniciativa-50-nuevos-genes-sobre-enfermedades-raras","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/es\/50-new-genes-initiative-un-rare-rare-diseases\/","title":{"rendered":"\u201cIniciativa \u201d50+ nuevos genes\u201c: enfermedades raras \u201dno raras\u201d"},"content":{"rendered":"<p>Existen m\u00e1s de 7000 enfermedades raras identificadas, de las cuales aproximadamente 80% son hereditarias. Aproximadamente 30 millones de estadounidenses padecen alguna enfermedad rara en la actualidad; m\u00e1s de 350 millones de personas en todo el mundo se ven afectadas. En la mayor\u00eda de las enfermedades gen\u00e9ticas raras, el conocimiento b\u00e1sico, la fisiopatolog\u00eda, la evoluci\u00f3n natural de la enfermedad y la comprensi\u00f3n de c\u00f3mo realizar las pruebas y el seguimiento son limitados o inexistentes. Esto dificulta considerablemente el diagn\u00f3stico y el tratamiento de estas enfermedades. Sin embargo, el diagn\u00f3stico temprano es crucial para la mayor\u00eda de los pacientes.<\/p>\n<p>El Dr. Arndt Rolfs, director ejecutivo de CENTOGENE, afirma: \u201cPara el diagn\u00f3stico precoz de enfermedades hereditarias raras, debemos liberar al cl\u00ednico de la carga y transferirla a los laboratorios. Ni siquiera el experto cl\u00ednico m\u00e1s prestigioso puede diagnosticar correctamente todos los trastornos gen\u00e9ticos raros conocidos. Esto supone un problema importante para la sociedad, y m\u00e1s a\u00fan para el paciente afectado y sus familiares. Este problema contribuye a la odisea diagn\u00f3stica que supone para la mayor\u00eda de estos pacientes\u201d.\u201d<\/p>\n<p>La implementaci\u00f3n de m\u00e9todos de detecci\u00f3n sistem\u00e1tica, secuenciaci\u00f3n del genoma completo (WGS) y pruebas prote\u00f3micas basadas en MS\/MS ya ha mejorado el mundo para los pacientes con enfermedades raras, aunque todav\u00eda est\u00e1 en sus primeras etapas.<\/p>\n<p>CENTOGENE est\u00e1 iniciando un programa para caracterizar al menos 50 genes nuevos al a\u00f1o, lo que revela un nuevo mundo de enfermedades hereditarias raras. La estrategia anal\u00edtica se basa en la combinaci\u00f3n sistem\u00e1tica de la secuenciaci\u00f3n del genoma completo (WGS) y un enfoque prote\u00f3mico de alto contenido en muestras cl\u00ednicas. Creemos que esta combinaci\u00f3n de estrategias diagn\u00f3sticas de cribado de genes y prote\u00ednas en cada paciente con un trastorno gen\u00e9tico raro permitir\u00e1 la identificaci\u00f3n, en los pr\u00f3ximos 10 a\u00f1os, de m\u00e1s de 95% de todos los trastornos hereditarios raros.<\/p>","protected":false},"excerpt":{"rendered":"<p>Existen m\u00e1s de 7000 enfermedades raras, de las cuales aproximadamente 80% son hereditarias. Para la mayor\u00eda de las enfermedades gen\u00e9ticas raras, el conocimiento es limitado o inexistente. Lea m\u00e1s sobre la iniciativa de CENTOGENE para desenterrar enfermedades raras en nuestro sitio web.<\/p>","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-2419","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>&quot;50+new genes&quot; initiative - &quot;Un-Rare&quot; rare diseases | CENTOGENE<\/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:\/\/www.centogene.com\/es\/iniciativa-50-nuevos-genes-sobre-enfermedades-raras\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"&quot;50+new genes&quot; initiative - &quot;Un-Rare&quot; rare diseases | CENTOGENE\" \/>\n<meta property=\"og:description\" content=\"There are more than 7,000 rare diseases where about 80% are hereditary. 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