{"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":"aktualizacja-centomdr-ujawnia-ciagly-wzrost-bazy-wiedzy-o-rzadkich-chorobach-dziedzicznych","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pl\/centomdr-update-reveals-continued-growth-of-rare-hereditary-disease-knowledge-base\/","title":{"rendered":"Aktualizacja CentoMD\u00ae ujawnia ci\u0105g\u0142y wzrost bazy wiedzy o rzadkich chorobach dziedzicznych"},"content":{"rendered":"<h2 class=\"h3\">Wspieranie pacjent\u00f3w w przyspieszonym diagnozowaniu i opracowywaniu metod leczenia<\/h2>\n<p>Cambridge, MA, USA i Rostock, Niemcy, 13 grudnia 2019 r. \u2013 W opublikowanej dzisiaj aktualizacji firma CENTOGENE (Nasdaq: CNTG) ujawni\u0142a, \u017ce od wrze\u015bnia 2019 r. CentoMD<sup>\u00ae<\/sup>&nbsp; \u0336 W repozytorium danych epidemiologicznych, fenotypowych i klinicznych firmy, liczba przeanalizowanych przypadk\u00f3w wzros\u0142a o 11% do ponad 400 000, a ca\u0142kowita liczba wariant\u00f3w wzros\u0142a do 12,2 miliona w 120 krajach. Ta najnowsza aktualizacja pokazuje dalsze powi\u0105zania mi\u0119dzy wariantami genetycznymi a interpretacj\u0105 kliniczn\u0105, poprzez po\u0142\u0105czenie precyzyjnych informacji kliniczno-genetycznych i biomarker\u00f3w. Nowo wygenerowana wiedza i dane opieraj\u0105 si\u0119 na wariantach chorobotw\u00f3rczych potwierdzonych danymi biomarker\u00f3w. Obejmuje to:<\/p>\n<ul>\n<li>Ponad 12,2 miliona unikalnych wariant\u00f3w<\/li>\n<li>Ponad 3700 powi\u0105zanych fenotyp\u00f3w<\/li>\n<li>Oko\u0142o 175 000 os\u00f3b \u2013 stowarzyszenia HPO<\/li>\n<\/ul>\n<p>\u201cCentoMD<sup>\u00ae<\/sup>, \u201dNasza, naszym zdaniem, najwi\u0119ksza na \u015bwiecie, starannie wyselekcjonowana baza danych mutacji w rzadkich chorobach jest niezwykle wa\u017cna dla \u0142\u0105czenia wariant\u00f3w genetycznych z interpretacj\u0105 kliniczn\u0105 \u2013 w tym ogromn\u0105 liczb\u0105 nieopublikowanych wariant\u00f3w\u201c \u2013 powiedzia\u0142 dr Arndt Rolfs, dyrektor generalny CENTOGENE. \u201dNasz rygorystyczny proces selekcji danych gwarantuje, \u017ce dostarczamy dok\u0142adne dane istotne dla diagnozy i podejmowania decyzji\u201c. \u201eCo wi\u0119cej, szczeg\u00f3\u0142owa analiza genetyczna, proteomiczna i metaboliczna w CentoMD<sup>\u00ae<\/sup> jest kluczem do poszerzenia bazy wiedzy populacji pacjent\u00f3w z chorobami rzadkimi, wspiera program rozwoju biomarker\u00f3w CENTOGENE i wspiera naszych partner\u00f3w farmaceutycznych w przyspieszaniu rozwoju lek\u00f3w sierocych. Musimy jednak zawsze pami\u0119ta\u0107, \u017ce nasza wiedza i do\u015bwiadczenie s\u0142u\u017c\u0105 ostatecznie dobru naszych pacjent\u00f3w z chorobami rzadkimi \u2013 jeste\u015bmy zobowi\u0105zani do ich wspierania przez ca\u0142e \u017cycie\u201d.\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 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