{"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":"la-actualizacion-de-centomdr-revela-mas-informacion-sobre-las-enfermedades-raras","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/es\/centomdr-update-reveals-further-insights-into-rare-diseases\/","title":{"rendered":"La actualizaci\u00f3n de CentoMD\u00ae revela m\u00e1s informaci\u00f3n sobre enfermedades raras"},"content":{"rendered":"<p>CAMBRIDGE, Massachusetts, y ROSTOCK y BERL\u00cdN, Alemania, 11 de agosto de 2020 \u2013 Centogene NV (Nasdaq: CNTG), empresa en fase comercial especializada en enfermedades raras que transforma datos cl\u00ednicos y gen\u00e9ticos del mundo real en informaci\u00f3n pr\u00e1ctica para pacientes, m\u00e9dicos y compa\u00f1\u00edas farmac\u00e9uticas, anunci\u00f3 hoy el lanzamiento de CentoMD\u00ae 5.8, la \u00faltima actualizaci\u00f3n de su base de datos de mutaciones para enfermedades raras, que incluye datos epidemiol\u00f3gicos, fenot\u00edpicos y cl\u00ednicos. Desde diciembre de 2019, el n\u00famero de casos analizados en CentoMD\u00ae ha superado los 430.000, y el n\u00famero total de variantes \u00fanicas ha superado los 12,7 millones, abarcando m\u00e1s de 120 pa\u00edses.<\/p>\n<p>Esta \u00faltima actualizaci\u00f3n subraya el compromiso continuo de la compa\u00f1\u00eda con el descubrimiento del conocimiento m\u00e1s profundo sobre enfermedades raras, como las variantes causantes de enfermedades, informaci\u00f3n gen\u00e9tica y de biomarcadores precisa, y la frecuencia al\u00e9lica. CentoMD\u00ae 5.8 incluye:<\/p>\n<ul>\n<li>M\u00e1s de 12,7 millones de variantes \u00fanicas<\/li>\n<li>M\u00e1s de 81.000 variantes clasificadas y seleccionadas<\/li>\n<li>M\u00e1s de 199.000 personas vinculadas a t\u00e9rminos de HPO<\/li>\n<\/ul>\n<p>El Prof. Arndt Rolfs, Director Ejecutivo de CENTOGENE, afirm\u00f3: \u201cCentoMD\u00ae, que consideramos la base de datos de mutaciones curadas m\u00e1s grande del mundo para enfermedades raras, desempe\u00f1a un papel fundamental al facilitar el diagn\u00f3stico m\u00e1s completo para los pacientes con enfermedades raras. Con la informaci\u00f3n m\u00e1s reciente y precisa, podemos seguir acortando la distancia entre las variantes gen\u00e9ticas y la interpretaci\u00f3n cl\u00ednica, poniendo fin a las dificultades diagn\u00f3sticas de los pacientes y acelerando el desarrollo de tratamientos que salvan vidas\u2019.\u201d<\/p>\n<p>El Dr. Volkmar Weckesser, Director de Informaci\u00f3n de CENTOGENE, a\u00f1adi\u00f3: \u201cNos esforzamos continuamente por proporcionar la informaci\u00f3n gen\u00e9tica, prote\u00f3mica y metab\u00f3lica m\u00e1s detallada y basada en la evidencia. Con cada actualizaci\u00f3n, podemos descubrir nuevos conocimientos sobre las enfermedades raras, ofreciendo soluciones a pacientes, m\u00e9dicos y socios farmac\u00e9uticos de todo el mundo\u201d.\u201d<\/p>\n<p>La compa\u00f1\u00eda tambi\u00e9n ha publicado recientemente una actualizaci\u00f3n de CentoLSD\u2122, considerada la base de datos de enfermedades de dep\u00f3sito lisosomal (LSD) m\u00e1s grande del mundo, basada en el conocimiento, para mejorar la comprensi\u00f3n global y las posibles oportunidades de tratamiento para pacientes con enfermedades raras. Impulsado por CentoMD\u00ae, CentoLSD\u2122 permite a investigadores, socios farmac\u00e9uticos y profesionales cl\u00ednicos acceder a una base de datos completa de variantes gen\u00e9ticas de GBA y GLA, clasificadas mediante un flujo de trabajo de curaci\u00f3n estandarizado.<\/p>\n<h2 class=\"h3\">Acerca de CENTOGENE<\/h2>\n<p>CENTOGENE se dedica al diagn\u00f3stico y la investigaci\u00f3n de enfermedades raras, transformando datos cl\u00ednicos y gen\u00e9ticos del mundo real en informaci\u00f3n pr\u00e1ctica para pacientes, m\u00e9dicos y compa\u00f1\u00edas farmac\u00e9uticas. Nuestro objetivo es racionalizar las decisiones terap\u00e9uticas y acelerar el desarrollo de nuevos medicamentos hu\u00e9rfanos mediante nuestro amplio conocimiento sobre enfermedades raras, que incluye datos epidemiol\u00f3gicos y cl\u00ednicos, as\u00ed como biomarcadores innovadores. CENTOGENE ha desarrollado una plataforma global propia para enfermedades raras basada en nuestro repositorio de datos del mundo real, con aproximadamente 3.000 millones de puntos de datos ponderados de m\u00e1s de 530.000 pacientes de m\u00e1s de 120 pa\u00edses diferentes, al 31 de marzo de 2020.<\/p>\n<p>La plataforma de la Compa\u00f1\u00eda incluye datos epidemiol\u00f3gicos, fenot\u00edpicos y gen\u00e9ticos que reflejan una poblaci\u00f3n global, as\u00ed como un biobanco de muestras de sangre de estos pacientes. CENTOGENE considera que esta es la \u00fanica plataforma que analiza exhaustivamente datos multinivel para mejorar la comprensi\u00f3n de las enfermedades hereditarias raras, lo que puede facilitar la identificaci\u00f3n de pacientes y mejorar la capacidad de nuestros socios farmac\u00e9uticos para comercializar medicamentos hu\u00e9rfanos. Al 31 de marzo de 2020, la Compa\u00f1\u00eda colaboraba con 39 socios farmac\u00e9uticos que abarcaban m\u00e1s de 45 enfermedades raras diferentes.<\/p>\n<p><strong>Contacto de prensa:<\/strong><\/p>\n<p>CENTOGENE<br \/> Melissa Hall<br \/> Comunicaciones corporativas<br \/> <a href=\"mailto:press@centogene.com\" title=\"Escribe un correo electr\u00f3nico\">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=\"Escribe un correo electr\u00f3nico\">centogene@mc-services.eu<\/a><\/p>\n<p>Consultor\u00eda FTI<br \/> Bridie Lawlor<br \/> +1.917.929.5684<br \/> <a href=\"mailto:bridie.lawlor@fticonsulting.com\" title=\"Escribe un correo electr\u00f3nico\">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\/es\/la-actualizacion-de-centomdr-revela-mas-informacion-sobre-las-enfermedades-raras\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\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. 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