{"id":2401,"date":"2018-11-12T00:00:00","date_gmt":"2018-11-12T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2401"},"modified":"2018-11-12T00:00:00","modified_gmt":"2018-11-12T00:00:00","slug":"aktualizacje-centomdr-najwiekszej-na-swiecie-bazy-danych-mutacji-genetycznych-rzadkich-chorob","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pl\/updates-to-centomdr-worlds-largest-genetic-mutation-database-of-rare-diseases\/","title":{"rendered":"Aktualizacje CentoMD\u00ae, najwi\u0119kszej na \u015bwiecie bazy danych mutacji genetycznych rzadkich chor\u00f3b"},"content":{"rendered":"<p>Firma CENTOGENE og\u0142osi\u0142a dzi\u015b aktualizacje <a href=\"https:\/\/www.centogene.com\/pl\/digital-solutions\/mutation-database-centomd.html\/\" target=\"_blank\" title=\"Wi\u0119cej o CentoMD\">CentoMD\u00ae<\/a>, najwi\u0119kszej na \u015bwiecie bazy danych mutacji genetycznych rzadkich chor\u00f3b. Najnowsza wersja jeszcze bardziej wype\u0142nia krytyczn\u0105 luk\u0119 mi\u0119dzy wariantami genetycznymi a interpretacj\u0105 kliniczn\u0105, \u0142\u0105cz\u0105c precyzyjne informacje kliniczno-genetyczne i biomarkerowe. Nowo wygenerowana wiedza i dane opieraj\u0105 si\u0119 obecnie na wariantach chorobotw\u00f3rczych potwierdzonych danymi biomarkerowymi. To unikalne po\u0142\u0105czenie standaryzuje i przyspiesza medyczn\u0105 interpretacj\u0119 tych wariant\u00f3w, pochodz\u0105cych od ponad 300 000 os\u00f3b z ponad 115 kraj\u00f3w.<\/p>\n<p>CentoMD\u00ae dostarcza informacji o korelacji genotyp-fenotyp na podstawie przypadk\u00f3w klinicznych analizowanych w CENTOGENE. Baza danych jest oparta na dowodach naukowych i obejmuje:<\/p>\n<ul>\n<li>Ponad 62 000 sklasyfikowanych i wyselekcjonowanych wariant\u00f3w<\/li>\n<li>Ponad 7,3 miliona wariant\u00f3w, z czego 58 procent nie zosta\u0142o opublikowanych<\/li>\n<li>Ponad 3500 powi\u0105zanych fenotyp\u00f3w<\/li>\n<li>Ponad 13 300 termin\u00f3w ontologii fenotypu cz\u0142owieka (HPO) i oko\u0142o 330 000 powi\u0105za\u0144 mi\u0119dzy jednostkami a HPO<\/li>\n<\/ul>\n<p>\u201cNajwi\u0119kszym wyzwaniem w leczeniu rzadkich chor\u00f3b dziedzicznych jest wczesna diagnoza, aby wykry\u0107 problem, zanim zajdzie za daleko, zapewni\u0107 poradnictwo i rozpocz\u0105\u0107 leczenie jak najszybciej. Niestety, rzeczywisto\u015b\u0107 jest taka, \u017ce zdiagnozowanie rzadkiej choroby dziedzicznej mo\u017ce zaj\u0105\u0107 \u015brednio ponad pi\u0119\u0107 lat. To zdecydowanie za d\u0142ugo\u201d \u2013 powiedzia\u0142 dr Arndt Rolfs, za\u0142o\u017cyciel i dyrektor generalny CENTOGENE. \u201cDzi\u0119ki naszej najnowszej wersji CentoMD\u00ae zapewniamy klinicystom i genetykom najpe\u0142niejsze informacje o wariantach genetycznych, co pozwala na stawianie kluczowych diagnoz jak najszybciej\u201d.\u201d<\/p>","protected":false},"excerpt":{"rendered":"<p>Zapewnia lekarzom dost\u0119p do wirtualnej encyklopedii informacji genetycznych, co pozwala na lepsz\u0105 i skuteczniejsz\u0105 diagnostyk\u0119 rzadkich chor\u00f3b<\/p>","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-2401","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast 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