{"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":"la-actualizacion-de-centomdr-revela-un-crecimiento-continuo-de-la-base-de-conocimientos-sobre-enfermedades-hereditarias-raras","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/es\/centomdr-update-reveals-continued-growth-of-rare-hereditary-disease-knowledge-base\/","title":{"rendered":"La actualizaci\u00f3n de CentoMD\u00ae revela un crecimiento continuo de la base de conocimientos sobre enfermedades hereditarias raras"},"content":{"rendered":"<h2 class=\"h3\">Apoyo a los pacientes para un diagn\u00f3stico acelerado y el desarrollo del tratamiento<\/h2>\n<p>Cambridge, MA EE. UU. y Rostock, Alemania 13 de diciembre de 2019: en una actualizaci\u00f3n publicada hoy, CENTOGENE (Nasdaq: CNTG) revel\u00f3 que desde septiembre de 2019, CentoMD<sup>\u00ae<\/sup>&nbsp; En el repositorio de datos epidemiol\u00f3gicos, fenot\u00edpicos y cl\u00ednicos de la Compa\u00f1\u00eda, el n\u00famero de casos analizados ha aumentado en 11%, superando los 400.000, y el n\u00famero total de variantes ha ascendido a 12,2 millones en 120 pa\u00edses. Esta \u00faltima actualizaci\u00f3n demuestra una mayor conexi\u00f3n entre las variantes gen\u00e9ticas y la interpretaci\u00f3n cl\u00ednica, combinando informaci\u00f3n gen\u00e9tica cl\u00ednica precisa y biomarcadores. Los nuevos conocimientos y datos se basan en variantes causantes de enfermedades confirmadas por datos de biomarcadores. Esto incluye:<\/p>\n<ul>\n<li>M\u00e1s de 12,2 millones de variantes \u00fanicas<\/li>\n<li>M\u00e1s de 3.700 fenotipos asociados<\/li>\n<li>Aproximadamente 175.000 personas-asociaciones de HPO<\/li>\n<\/ul>\n<p>\u201cCentoMD<sup>\u00ae<\/sup>, \u201dLo que consideramos la base de datos de mutaciones curadas m\u00e1s grande del mundo para enfermedades raras, es fundamental para conectar las variantes gen\u00e9ticas con la interpretaci\u00f3n cl\u00ednica, incluyendo una gran cantidad de variantes no publicadas\u201c, afirm\u00f3 el Dr. Arndt Rolfs, director ejecutivo de CENTOGENE. \u201dNuestro estricto proceso de curaci\u00f3n de datos garantiza que proporcionamos datos precisos y relevantes para el diagn\u00f3stico y la toma de decisiones\u201c. \u201cAdem\u00e1s, el detallado an\u00e1lisis gen\u00e9tico, prote\u00f3mico y metab\u00f3lico de CentoMD\u2026<sup>\u00ae<\/sup> Es clave para fortalecer la base de conocimientos de las poblaciones de pacientes con enfermedades raras, impulsa el programa de desarrollo de biomarcadores de CENTOGENE y apoya a nuestros socios farmac\u00e9uticos en la aceleraci\u00f3n del desarrollo de medicamentos hu\u00e9rfanos. Sin embargo, debemos recordar siempre que nuestra experiencia y conocimientos benefician, en \u00faltima instancia, a nuestros pacientes con enfermedades raras: tenemos un compromiso de por vida con ellos.\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 Growth of Rare Hereditary 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