{"id":2422,"date":"2018-02-02T00:00:00","date_gmt":"2018-02-02T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2422"},"modified":"2018-02-02T00:00:00","modified_gmt":"2018-02-02T00:00:00","slug":"raport-o-rzadkich-chorobach-centomdr-zapewnia-wirtualna-encyklopedie-informacji-genetycznych","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pl\/rare-disease-report-centomdr-provides-a-virtual-encyclopedia-of-genetic-information\/","title":{"rendered":"Raport o rzadkich chorobach: CentoMD\u00ae zapewnia wirtualn\u0105 encyklopedi\u0119 informacji genetycznych"},"content":{"rendered":"<p>Jedna ze stron internetowych spo\u0142eczno\u015bci zajmuj\u0105cej si\u0119 chorobami rzadkimi \u2013 Rare Disease Report udost\u0119pni\u0142a ekscytuj\u0105ce wie\u015bci na temat <a href=\"https:\/\/www.centogene.com\/pl\/farmaceutyka\/mutation-database-centomd.html\/\" target=\"_blank\" title=\"Wi\u0119cej o CentoMD\">CentoMD\u00ae<\/a> kamie\u0144 milowy w zakresie bazy danych mutacji \u2013 miliard zebranych alleli z ponad 200 000 pr\u00f3bek pacjent\u00f3w.<\/p>\n<p>\u201c<a href=\"https:\/\/www.centogene.com\/pl\/farmaceutyka\/mutation-database-centomd.html\/\" target=\"_blank\" title=\"Wi\u0119cej o CentoMD\">CentoMD\u00ae<\/a> \u201dzapewnia wirtualn\u0105 encyklopedi\u0119 informacji genetycznych, umo\u017cliwiaj\u0105c pracownikom s\u0142u\u017cby zdrowia diagnozowanie i leczenie rzadkich chor\u00f3b w znacznie bardziej wydajny, szybszy i ukierunkowany spos\u00f3b\u201d \u2013 wyja\u015bnia dr Arndt Rolfs, dyrektor generalny Centogene.<\/p>\n<p>Firma uwa\u017ca, \u017ce wyniki bada\u0144 dost\u0119pnych w bazie danych mog\u0105 pom\u00f3c pracownikom s\u0142u\u017cby zdrowia w skuteczniejszym diagnozowaniu pacjent\u00f3w, co prze\u0142o\u017cy si\u0119 na skuteczniejsze leczenie.<\/p>\n<p>\u201cOsi\u0105gni\u0119cie ponad miliarda alleli w naszej bazie danych CentoMD\u00ae to ogromny krok milowy, kt\u00f3ry znacz\u0105co poprawi jako\u015b\u0107 ka\u017cdego zestawu danych genetycznych, stanowi\u0105c podstaw\u0119 dalszej opieki medycznej\u201d \u2013 powiedzia\u0142 prof. Rolfs w komunikacie prasowym.<\/p>\n<p>Dane w bazie danych pochodz\u0105 od os\u00f3b z rozpoznaniem klinicznym na ca\u0142ym \u015bwiecie i zawieraj\u0105 informacje o chorobach rzadkich, dotycz\u0105ce lokalizacji genetycznej, zmian w bia\u0142kach, rodzaj\u00f3w zmienno\u015bci oraz analiz biochemicznych. Pracownicy s\u0142u\u017cby zdrowia maj\u0105 dost\u0119p do standaryzowanych, opatrzonych komentarzami mutacji genetycznych oraz 57% nieopublikowanych wariant\u00f3w klinicznych. Subskrybenci mog\u0105 eksportowa\u0107 odpowiednie dane do pliku Excel, aby przechowywa\u0107 je w swojej dokumentacji.<\/p>\n<p>Najnowsza baza danych CentoMD\u00ae zapewnia lekarzom dost\u0119p do ponad 5,2 miliona wariant\u00f3w, przy czym wiele wariant\u00f3w wykryto metod\u0105 sekwencjonowania ca\u0142ego eksomu.<\/p>\n<p>Lekarze maj\u0105 r\u00f3wnie\u017c mo\u017cliwo\u015b\u0107 wykonywania zapyta\u0144 opartych na objawach, bazuj\u0105c na ontologii fenotypu cz\u0142owieka (HPO), a w zamian CentoMD\u00ae dostarcza potencjalnych gen\u00f3w kandyduj\u0105cych i wariant\u00f3w, kt\u00f3re mog\u0105 potencjalnie zdefiniowa\u0107 interesuj\u0105ce ich objawy.<\/p>\n<p>Baza danych jest aktualizowana kwartalnie, a Centogene przeprowadza sta\u0142\u0105 ocen\u0119 wariant\u00f3w. Co miesi\u0105c diagnozuje si\u0119 oko\u0142o 18 000 przypadk\u00f3w, kt\u00f3re s\u0105 dodawane do bazy danych. Pracownicy s\u0142u\u017cby zdrowia zapisani do bazy s\u0105 zawsze powiadamiani o tych zmianach, aby mie\u0107 pewno\u015b\u0107, \u017ce stawiaj\u0105 swoim pacjentom jak najdok\u0142adniejsz\u0105 diagnoz\u0119.<\/p>\n<p>Centogene uwa\u017ca, \u017ce motywacj\u0105 badaczy zajmuj\u0105cych si\u0119 rzadkimi chorobami genetycznymi jest podej\u015bcie skoncentrowane na pacjencie.<\/p>\n<p>Oryginalny artyku\u0142 znajdziesz tutaj<a href=\"https:\/\/www.raredr.com\/news\/centogenes-rare-disease-database-hits-one-billion-collected-alleles?t=physicians\" target=\"_blank\" title=\"Przeczytaj artyku\u0142\"> Tutaj<\/a>.<\/p>","protected":false},"excerpt":{"rendered":"<p>Jedna ze stron internetowych spo\u0142eczno\u015bci zajmuj\u0105cej si\u0119 chorobami rzadkimi \u2013 Rare Disease Report \u2013 podzieli\u0142a si\u0119 ekscytuj\u0105cymi wie\u015bciami o osi\u0105gni\u0119ciu kamienia milowego w bazie danych mutacji CentoMD\u00ae \u2013 miliardzie zebranych alleli z ponad 200 000 pr\u00f3bek od pacjent\u00f3w.<\/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-2422","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>Rare Disease Report: CentoMD\u00ae provides a virtual encyclopedia of genetic information | 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\/pl\/raport-o-rzadkich-chorobach-centomdr-zapewnia-wirtualna-encyklopedie-informacji-genetycznych\/\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta 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