{"id":2328,"date":"2020-08-11T00:00:00","date_gmt":"2020-08-11T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2328"},"modified":"2020-08-11T00:00:00","modified_gmt":"2020-08-11T00:00:00","slug":"atualizacao-do-centomdr-revela-novas-informacoes-sobre-doencas-raras","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pt\/centomdr-update-reveals-further-insights-into-rare-diseases\/","title":{"rendered":"Atualiza\u00e7\u00e3o do CentoMD\u00ae revela novas informa\u00e7\u00f5es sobre doen\u00e7as raras."},"content":{"rendered":"<p>CAMBRIDGE, Massachusetts, ROSTOCK e BERLIM, Alemanha, 11 de agosto de 2020 \u2013 A Centogene NV (Nasdaq: CNTG), empresa em fase comercial focada em doen\u00e7as raras que transforma dados cl\u00ednicos e gen\u00e9ticos do mundo real em informa\u00e7\u00f5es acion\u00e1veis para pacientes, m\u00e9dicos e empresas farmac\u00eauticas, anunciou hoje o lan\u00e7amento do CentoMD\u00ae 5.8 \u2013 a atualiza\u00e7\u00e3o mais recente do banco de dados de muta\u00e7\u00f5es selecionadas da empresa para doen\u00e7as raras, incluindo dados epidemiol\u00f3gicos, fenot\u00edpicos e cl\u00ednicos. Desde dezembro de 2019, o n\u00famero de casos analisados no CentoMD\u00ae cresceu para mais de 430.000 e o n\u00famero total de variantes \u00fanicas aumentou para mais de 12,7 milh\u00f5es, abrangendo mais de 120 pa\u00edses.<\/p>\n<p>Esta atualiza\u00e7\u00e3o mais recente refor\u00e7a o compromisso cont\u00ednuo da empresa em desvendar o conhecimento mais profundo sobre doen\u00e7as raras, como variantes causadoras de doen\u00e7as, informa\u00e7\u00f5es gen\u00e9ticas e de biomarcadores precisas e frequ\u00eancia al\u00e9lica. O CentoMD\u00ae 5.8 inclui:<\/p>\n<ul>\n<li>Mais de 12,7 milh\u00f5es de variantes \u00fanicas.<\/li>\n<li>Mais de 81.000 variantes classificadas e selecionadas.<\/li>\n<li>Mais de 199.000 indiv\u00edduos ligados a termos HPO<\/li>\n<\/ul>\n<p>O Prof. Arndt Rolfs, CEO da CENTOGENE, afirmou: \u201cO CentoMD\u00ae, que acreditamos ser o maior banco de dados de muta\u00e7\u00f5es do mundo para doen\u00e7as raras, desempenha um papel inestim\u00e1vel ao facilitar o diagn\u00f3stico mais completo para pacientes com doen\u00e7as raras. Com as informa\u00e7\u00f5es mais recentes e precisas, conseguimos continuar a reduzir a lacuna entre as variantes gen\u00e9ticas e a interpreta\u00e7\u00e3o cl\u00ednica, pondo fim \u00e0s odisseias diagn\u00f3sticas dos pacientes e acelerando o desenvolvimento de tratamentos que salvam vidas.\u2019<\/p>\n<p>O Dr. Volkmar Weckesser, Diretor de Informa\u00e7\u00e3o da CENTOGENE, acrescentou: \u201cN\u00f3s nos esfor\u00e7amos continuamente para fornecer as informa\u00e7\u00f5es gen\u00e9ticas, prote\u00f4micas e metab\u00f3licas mais detalhadas e baseadas em evid\u00eancias. Com cada atualiza\u00e7\u00e3o, conseguimos desvendar novos conhecimentos sobre doen\u00e7as raras, oferecendo solu\u00e7\u00f5es para pacientes, m\u00e9dicos e parceiros farmac\u00eauticos em todo o mundo.\u201d<\/p>\n<p>A empresa tamb\u00e9m lan\u00e7ou recentemente uma atualiza\u00e7\u00e3o do CentoLSD\u2122, considerado o maior banco de dados mundial sobre doen\u00e7as de armazenamento lisoss\u00f4mico (DAL), baseado em conhecimento, para aprimorar a compreens\u00e3o global e as potenciais oportunidades de tratamento para pacientes com doen\u00e7as raras. Desenvolvido pela plataforma CentoMD\u00ae, o CentoLSD\u2122 permite que pesquisadores, parceiros farmac\u00eauticos e m\u00e9dicos acessem um banco de dados abrangente de variantes gen\u00e9ticas de GBA e GLA, classificadas por meio de um fluxo de trabalho de curadoria padronizado.<\/p>\n<h2 class=\"h3\">Sobre a CENTOGENE<\/h2>\n<p>A CENTOGENE dedica-se ao diagn\u00f3stico e \u00e0 pesquisa de doen\u00e7as raras, transformando dados cl\u00ednicos e gen\u00e9ticos do mundo real em informa\u00e7\u00f5es pr\u00e1ticas para pacientes, m\u00e9dicos e empresas farmac\u00eauticas. Nosso objetivo \u00e9 trazer racionalidade \u00e0s decis\u00f5es de tratamento e acelerar o desenvolvimento de novos medicamentos \u00f3rf\u00e3os, utilizando nosso amplo conhecimento em doen\u00e7as raras, incluindo dados epidemiol\u00f3gicos e cl\u00ednicos, bem como biomarcadores inovadores. A CENTOGENE desenvolveu uma plataforma global propriet\u00e1ria para doen\u00e7as raras, baseada em nosso reposit\u00f3rio de dados do mundo real, com aproximadamente 3 bilh\u00f5es de pontos de dados ponderados de mais de 530.000 pacientes representando mais de 120 pa\u00edses diferentes, em 31 de mar\u00e7o de 2020.<\/p>\n<p>A plataforma da empresa inclui dados epidemiol\u00f3gicos, fenot\u00edpicos e gen\u00e9ticos que refletem uma popula\u00e7\u00e3o global, al\u00e9m de um biobanco de amostras de sangue desses pacientes. A CENTOGENE acredita que esta \u00e9 a \u00fanica plataforma capaz de analisar de forma abrangente dados em m\u00faltiplos n\u00edveis para aprimorar a compreens\u00e3o de doen\u00e7as heredit\u00e1rias raras, o que pode auxiliar na identifica\u00e7\u00e3o de pacientes e melhorar a capacidade de nossos parceiros farmac\u00eauticos de lan\u00e7ar medicamentos \u00f3rf\u00e3os no mercado. Em 31 de mar\u00e7o de 2020, a empresa colaborava com 39 parceiros farmac\u00eauticos, abrangendo mais de 45 doen\u00e7as raras diferentes.<\/p>\n<p><strong>Contato com a m\u00eddia:<\/strong><\/p>\n<p>CENTOGENE<br \/> Melissa Hall<br \/> Comunica\u00e7\u00e3o Corporativa<br \/> <a href=\"mailto:press@centogene.com\" title=\"Escreva um e-mail\">press@centogene.com<\/a><\/p>\n<p>MC Services AG<br \/> Anne Hennecke\/Susanne Kutter<br \/> +49 211 529252 22 \/ +49 211 529252 27<br \/> <a href=\"mailto:centogene@mc-services.eu\" title=\"Escreva um e-mail\">centogene@mc-services.eu<\/a><\/p>\n<p>Consultoria FTI<br \/> Bridie Lawlor<br \/> +1.917.929.5684<br \/> <a href=\"mailto:bridie.lawlor@fticonsulting.com\" title=\"Escreva um e-mail\">bridie.lawlor@fticonsulting.com<\/a><\/p>","protected":false},"excerpt":{"rendered":"<p>CAMBRIDGE, Mass., and ROSTOCK and BERLIN, Germany, August 11, 2020 \u2013 Centogene N.V. (Nasdaq: CNTG), a commercial-stage company focused on [&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-2328","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 Further Insights Into 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\/atualizacao-do-centomdr-revela-novas-informacoes-sobre-doencas-raras\/\" \/>\n<meta property=\"og:locale\" content=\"pt_BR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"CentoMD\u00ae Update Reveals Further Insights Into Rare Diseases | CENTOGENE\" \/>\n<meta property=\"og:description\" content=\"CAMBRIDGE, Mass., and ROSTOCK and BERLIN, Germany, August 11, 2020 \u2013 Centogene N.V. (Nasdaq: CNTG), a commercial-stage company focused on [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.centogene.com\/pt\/atualizacao-do-centomdr-revela-novas-informacoes-sobre-doencas-raras\/\" \/>\n<meta property=\"og:site_name\" content=\"CENTOGENE\" \/>\n<meta property=\"article:published_time\" content=\"2020-08-11T00:00:00+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/csm_centogene-diagnostics-priority-disease-03_5a57c07603.webp\" \/>\n\t<meta property=\"og:image:width\" content=\"740\" \/>\n\t<meta property=\"og:image:height\" content=\"416\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/webp\" \/>\n<meta name=\"author\" content=\"admincg\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Escrito por\" \/>\n\t<meta name=\"twitter:data1\" content=\"admincg\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. tempo de leitura\" \/>\n\t<meta name=\"twitter:data2\" content=\"3 minutos\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/www.centogene.com\\\/centomdr-update-reveals-further-insights-into-rare-diseases\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/www.centogene.com\\\/centomdr-update-reveals-further-insights-into-rare-diseases\\\/\"},\"author\":{\"name\":\"admincg\",\"@id\":\"https:\\\/\\\/www.centogene.com\\\/#\\\/schema\\\/person\\\/d9b8738539a9ddb5de5a02a909d40b8b\"},\"headline\":\"CentoMD\u00ae Update Reveals Further Insights Into Rare Diseases\",\"datePublished\":\"2020-08-11T00:00:00+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/www.centogene.com\\\/centomdr-update-reveals-further-insights-into-rare-diseases\\\/\"},\"wordCount\":531,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/www.centogene.com\\\/#organization\"},\"articleSection\":[\"Uncategorized\"],\"inLanguage\":\"pt-BR\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/www.centogene.com\\\/centomdr-update-reveals-further-insights-into-rare-diseases\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/www.centogene.com\\\/centomdr-update-reveals-further-insights-into-rare-diseases\\\/\",\"url\":\"https:\\\/\\\/www.centogene.com\\\/centomdr-update-reveals-further-insights-into-rare-diseases\\\/\",\"name\":\"CentoMD\u00ae Update Reveals Further Insights Into Rare Diseases | CENTOGENE\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/www.centogene.com\\\/#website\"},\"datePublished\":\"2020-08-11T00:00:00+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/www.centogene.com\\\/centomdr-update-reveals-further-insights-into-rare-diseases\\\/#breadcrumb\"},\"inLanguage\":\"pt-BR\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/www.centogene.com\\\/centomdr-update-reveals-further-insights-into-rare-diseases\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/www.centogene.com\\\/centomdr-update-reveals-further-insights-into-rare-diseases\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/www.centogene.com\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"CentoMD\u00ae Update Reveals Further Insights Into Rare Diseases\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/www.centogene.com\\\/#website\",\"url\":\"https:\\\/\\\/www.centogene.com\\\/\",\"name\":\"CENTOGENE\",\"description\":\"Guiding Precision Medicine\",\"publisher\":{\"@id\":\"https:\\\/\\\/www.centogene.com\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/www.centogene.com\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"pt-BR\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/www.centogene.com\\\/#organization\",\"name\":\"CENTOGENE\",\"url\":\"https:\\\/\\\/www.centogene.com\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"pt-BR\",\"@id\":\"https:\\\/\\\/www.centogene.com\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/www.centogene.com\\\/wp-content\\\/uploads\\\/2026\\\/04\\\/CENTOGENE-Flower.png\",\"contentUrl\":\"https:\\\/\\\/www.centogene.com\\\/wp-content\\\/uploads\\\/2026\\\/04\\\/CENTOGENE-Flower.png\",\"width\":246,\"height\":246,\"caption\":\"CENTOGENE\"},\"image\":{\"@id\":\"https:\\\/\\\/www.centogene.com\\\/#\\\/schema\\\/logo\\\/image\\\/\"},\"sameAs\":[\"https:\\\/\\\/www.linkedin.com\\\/company\\\/centogene\",\"https:\\\/\\\/www.youtube.com\\\/channel\\\/UClZxtN_laC1_ZtCdxkasdPQ\",\"https:\\\/\\\/www.instagram.com\\\/_centogene_\\\/\"]},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/www.centogene.com\\\/#\\\/schema\\\/person\\\/d9b8738539a9ddb5de5a02a909d40b8b\",\"name\":\"admincg\",\"url\":\"https:\\\/\\\/www.centogene.com\\\/pt\\\/author\\\/admincg\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Atualiza\u00e7\u00e3o do CentoMD\u00ae revela novas informa\u00e7\u00f5es sobre doen\u00e7as raras | CENTOGENE","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/www.centogene.com\/pt\/atualizacao-do-centomdr-revela-novas-informacoes-sobre-doencas-raras\/","og_locale":"pt_BR","og_type":"article","og_title":"CentoMD\u00ae Update Reveals Further Insights Into Rare Diseases | CENTOGENE","og_description":"CAMBRIDGE, Mass., and ROSTOCK and BERLIN, Germany, August 11, 2020 \u2013 Centogene N.V. (Nasdaq: CNTG), a commercial-stage company focused on [&hellip;]","og_url":"https:\/\/www.centogene.com\/pt\/atualizacao-do-centomdr-revela-novas-informacoes-sobre-doencas-raras\/","og_site_name":"CENTOGENE","article_published_time":"2020-08-11T00:00:00+00:00","og_image":[{"width":740,"height":416,"url":"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/csm_centogene-diagnostics-priority-disease-03_5a57c07603.webp","type":"image\/webp"}],"author":"admincg","twitter_card":"summary_large_image","twitter_misc":{"Escrito por":"admincg","Est. tempo de leitura":"3 minutos"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/www.centogene.com\/centomdr-update-reveals-further-insights-into-rare-diseases\/#article","isPartOf":{"@id":"https:\/\/www.centogene.com\/centomdr-update-reveals-further-insights-into-rare-diseases\/"},"author":{"name":"admincg","@id":"https:\/\/www.centogene.com\/#\/schema\/person\/d9b8738539a9ddb5de5a02a909d40b8b"},"headline":"CentoMD\u00ae Update Reveals Further Insights Into Rare Diseases","datePublished":"2020-08-11T00:00:00+00:00","mainEntityOfPage":{"@id":"https:\/\/www.centogene.com\/centomdr-update-reveals-further-insights-into-rare-diseases\/"},"wordCount":531,"commentCount":0,"publisher":{"@id":"https:\/\/www.centogene.com\/#organization"},"articleSection":["Uncategorized"],"inLanguage":"pt-BR","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/www.centogene.com\/centomdr-update-reveals-further-insights-into-rare-diseases\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/www.centogene.com\/centomdr-update-reveals-further-insights-into-rare-diseases\/","url":"https:\/\/www.centogene.com\/centomdr-update-reveals-further-insights-into-rare-diseases\/","name":"Atualiza\u00e7\u00e3o do CentoMD\u00ae revela novas informa\u00e7\u00f5es sobre doen\u00e7as raras | CENTOGENE","isPartOf":{"@id":"https:\/\/www.centogene.com\/#website"},"datePublished":"2020-08-11T00:00:00+00:00","breadcrumb":{"@id":"https:\/\/www.centogene.com\/centomdr-update-reveals-further-insights-into-rare-diseases\/#breadcrumb"},"inLanguage":"pt-BR","potentialAction":[{"@type":"ReadAction","target":["https:\/\/www.centogene.com\/centomdr-update-reveals-further-insights-into-rare-diseases\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/www.centogene.com\/centomdr-update-reveals-further-insights-into-rare-diseases\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/www.centogene.com\/"},{"@type":"ListItem","position":2,"name":"CentoMD\u00ae Update Reveals Further Insights Into Rare Diseases"}]},{"@type":"WebSite","@id":"https:\/\/www.centogene.com\/#website","url":"https:\/\/www.centogene.com\/","name":"CENTOGENE","description":"Orientando a Medicina de Precis\u00e3o","publisher":{"@id":"https:\/\/www.centogene.com\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/www.centogene.com\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"pt-BR"},{"@type":"Organization","@id":"https:\/\/www.centogene.com\/#organization","name":"CENTOGENE","url":"https:\/\/www.centogene.com\/","logo":{"@type":"ImageObject","inLanguage":"pt-BR","@id":"https:\/\/www.centogene.com\/#\/schema\/logo\/image\/","url":"https:\/\/www.centogene.com\/wp-content\/uploads\/2026\/04\/CENTOGENE-Flower.png","contentUrl":"https:\/\/www.centogene.com\/wp-content\/uploads\/2026\/04\/CENTOGENE-Flower.png","width":246,"height":246,"caption":"CENTOGENE"},"image":{"@id":"https:\/\/www.centogene.com\/#\/schema\/logo\/image\/"},"sameAs":["https:\/\/www.linkedin.com\/company\/centogene","https:\/\/www.youtube.com\/channel\/UClZxtN_laC1_ZtCdxkasdPQ","https:\/\/www.instagram.com\/_centogene_\/"]},{"@type":"Person","@id":"https:\/\/www.centogene.com\/#\/schema\/person\/d9b8738539a9ddb5de5a02a909d40b8b","name":"admincg","url":"https:\/\/www.centogene.com\/pt\/author\/admincg\/"}]}},"_links":{"self":[{"href":"https:\/\/www.centogene.com\/pt\/wp-json\/wp\/v2\/posts\/2328","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.centogene.com\/pt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.centogene.com\/pt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.centogene.com\/pt\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.centogene.com\/pt\/wp-json\/wp\/v2\/comments?post=2328"}],"version-history":[{"count":0,"href":"https:\/\/www.centogene.com\/pt\/wp-json\/wp\/v2\/posts\/2328\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.centogene.com\/pt\/wp-json\/wp\/v2\/media?parent=2328"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.centogene.com\/pt\/wp-json\/wp\/v2\/categories?post=2328"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.centogene.com\/pt\/wp-json\/wp\/v2\/tags?post=2328"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}