{"id":2370,"date":"2019-12-13T00:00:00","date_gmt":"2019-12-13T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2370"},"modified":"2019-12-13T00:00:00","modified_gmt":"2019-12-13T00:00:00","slug":"a-atualizacao-do-centomdr-revela-o-crescimento-continuo-da-base-de-conhecimento-sobre-doencas-hereditarias-raras","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pt\/centomdr-update-reveals-continued-growth-of-rare-hereditary-disease-knowledge-base\/","title":{"rendered":"Atualiza\u00e7\u00e3o do CentoMD\u00ae revela crescimento cont\u00ednuo da base de conhecimento sobre doen\u00e7as heredit\u00e1rias raras."},"content":{"rendered":"<h2 class=\"h3\">Apoio aos pacientes para o desenvolvimento acelerado de diagn\u00f3sticos e tratamentos.<\/h2>\n<p>Cambridge, MA EUA e Rostock, Alemanha 13 de dezembro de 2019 \u2013 Em uma atualiza\u00e7\u00e3o divulgada hoje, CENTOGENE (Nasdaq: CNTG) revelou que desde setembro de 2019, CentoMD<sup>\u00ae<\/sup>&nbsp; Com o reposit\u00f3rio de dados epidemiol\u00f3gicos, fenot\u00edpicos e cl\u00ednicos da empresa, o n\u00famero de casos analisados cresceu 111 vezes, ultrapassando 400.000, e o n\u00famero total de variantes aumentou para 12,2 milh\u00f5es, provenientes de 120 pa\u00edses. Esta atualiza\u00e7\u00e3o mais recente demonstra novas conex\u00f5es entre variantes gen\u00e9ticas e interpreta\u00e7\u00e3o cl\u00ednica, combinando informa\u00e7\u00f5es gen\u00e9ticas cl\u00ednicas precisas e biomarcadores. O conhecimento e os dados rec\u00e9m-gerados s\u00e3o baseados em variantes causadoras de doen\u00e7as confirmadas por dados de biomarcadores. Isso inclui:<\/p>\n<ul>\n<li>Mais de 12,2 milh\u00f5es de variantes \u00fanicas.<\/li>\n<li>Mais de 3.700 fen\u00f3tipos associados<\/li>\n<li>Aproximadamente 175.000 indiv\u00edduos - associa\u00e7\u00f5es HPO<\/li>\n<\/ul>\n<p>\u201cCentoMD<sup>\u00ae<\/sup>, \u201dO CentoMD, que acreditamos ser o maior banco de dados de muta\u00e7\u00f5es do mundo para doen\u00e7as raras, \u00e9 extremamente importante para conectar variantes gen\u00e9ticas e interpreta\u00e7\u00e3o cl\u00ednica, incluindo um grande n\u00famero de variantes ainda n\u00e3o publicadas\u201c, disse o Dr. Arndt Rolfs, CEO da CENTOGENE. \u201dNosso rigoroso processo de curadoria de dados garante que estamos fornecendo dados precisos e relevantes para diagn\u00f3stico e tomada de decis\u00f5es.\u201c \u201cAl\u00e9m disso, a an\u00e1lise gen\u00e9tica, prote\u00f4mica e metab\u00f3lica detalhada do CentoMD<sup>\u00ae<\/sup> \u00e9 fundamental para impulsionar a base de conhecimento sobre popula\u00e7\u00f5es de pacientes com doen\u00e7as raras, ajuda a direcionar o programa de desenvolvimento de biomarcadores da CENTOGENE e apoia nossos parceiros farmac\u00eauticos na acelera\u00e7\u00e3o do desenvolvimento de medicamentos \u00f3rf\u00e3os. Mas devemos sempre lembrar que nossa experi\u00eancia e conhecimento s\u00e3o, em \u00faltima an\u00e1lise, para o benef\u00edcio de nossos pacientes com doen\u00e7as raras \u2013 temos um compromisso vital\u00edcio com eles.\u201d<\/p>","protected":false},"excerpt":{"rendered":"<p>Supporting Patients for Accelerated Diagnosis and Treatment Development Cambridge, MA USA &amp; Rostock, Germany December 13, 2019 &#8211; In an [&hellip;]<\/p>\n","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-2370","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>CentoMD\u00ae Update Reveals Continued 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