{"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-dos-50-novos-genes-para-doencas-raras","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pt\/50-new-genes-initiative-un-rare-rare-diseases\/","title":{"rendered":"\u201cIniciativa \u201dmais de 50 novos genes\u201c \u2013 Doen\u00e7as raras \u201dn\u00e3o raras\u201d"},"content":{"rendered":"<p>Existem mais de 7.000 doen\u00e7as raras identificadas, das quais cerca de 80% s\u00e3o heredit\u00e1rias. Aproximadamente 30 milh\u00f5es de americanos vivem com uma doen\u00e7a rara atualmente; em todo o mundo, mais de 350 milh\u00f5es de pessoas s\u00e3o afetadas. Para a maioria das doen\u00e7as gen\u00e9ticas raras, o conhecimento b\u00e1sico, a fisiopatologia, o curso natural da doen\u00e7a e a compreens\u00e3o de como realizar testes e monitorar o quadro s\u00e3o limitados ou inexistentes. Isso dificulta significativamente o diagn\u00f3stico e o tratamento dessas doen\u00e7as. No entanto, o diagn\u00f3stico precoce \u00e9 crucial para a maioria dos pacientes.<\/p>\n<p>O Dr. Arndt Rolfs, CEO da CENTOGENE, afirma: \u201cPara o diagn\u00f3stico precoce de doen\u00e7as heredit\u00e1rias raras, precisamos aliviar a carga dos m\u00e9dicos e transferi-la para os laborat\u00f3rios. Mesmo o especialista cl\u00ednico mais renomado n\u00e3o consegue diagnosticar corretamente todas as doen\u00e7as gen\u00e9ticas raras conhecidas. Isso representa um problema significativo para a sociedade e, ainda mais, para o paciente afetado e seus familiares. Esse problema contribui para a odisseia diagn\u00f3stica da maioria desses pacientes.\u201d<\/p>\n<p>A implementa\u00e7\u00e3o de m\u00e9todos de triagem sistem\u00e1ticos, sequenciamento de genoma completo (WGS) e testes prote\u00f4micos baseados em MS\/MS j\u00e1 melhorou o mundo para pacientes com doen\u00e7as raras, embora ainda esteja em seus est\u00e1gios iniciais.<\/p>\n<p>A CENTOGENE est\u00e1 iniciando um programa para caracterizar pelo menos 50 novos genes por ano, revelando um novo mundo de doen\u00e7as heredit\u00e1rias raras. A estrat\u00e9gia anal\u00edtica baseia-se na combina\u00e7\u00e3o sistem\u00e1tica de sequenciamento de genoma completo (WGS) e prote\u00f4mica de alto conte\u00fado em amostras cl\u00ednicas. Acreditamos que essa combina\u00e7\u00e3o de estrat\u00e9gias de triagem gen\u00e9tica e proteica para diagn\u00f3stico em cada paciente com uma doen\u00e7a gen\u00e9tica rara permitir\u00e1 a identifica\u00e7\u00e3o, nos pr\u00f3ximos 10 anos, de mais de 951 casos de todas as doen\u00e7as heredit\u00e1rias raras.<\/p>","protected":false},"excerpt":{"rendered":"<p>Existem mais de 7.000 doen\u00e7as raras, sendo que cerca de 80% s\u00e3o heredit\u00e1rias. Para a maioria dessas doen\u00e7as gen\u00e9ticas raras, o conhecimento \u00e9 limitado ou inexistente. Saiba mais sobre a iniciativa da CENTOGENE para desvendar doen\u00e7as raras em nosso site.<\/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\/pt\/iniciativa-dos-50-novos-genes-para-doencas-raras\/\" \/>\n<meta property=\"og:locale\" content=\"pt_BR\" \/>\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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