{"id":2383,"date":"2019-06-13T00:00:00","date_gmt":"2019-06-13T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2383"},"modified":"2019-06-13T00:00:00","modified_gmt":"2019-06-13T00:00:00","slug":"centogene-rozpoczyna-badania-majace-na-celu-odkrycie-genetyki-hipofosfatazji","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pl\/centogene-launches-research-study-to-unravel-the-genetics-of-hypophosphatasia\/","title":{"rendered":"CENTOGENE rozpoczyna badania maj\u0105ce na celu odkrycie genetyki hipofosfatazji"},"content":{"rendered":"

CENTOGENE<\/a> og\u0142osi\u0142 dzi\u015b rozpocz\u0119cie nowego badania naukowego maj\u0105cego na celu identyfikacj\u0119 wariant\u00f3w genetycznych u pacjent\u00f3w z hipofosfatazj\u0105 (HPP). Roczne, wieloo\u015brodkowe badanie zostanie przeprowadzone w Rostocku w Niemczech i Bogocie w Kolumbii.<\/p>\n

\u201cZ entuzjazmem wykorzystujemy nasz\u0105 wiedz\u0119 i do\u015bwiadczenie genetyczne do dalszej identyfikacji i lepszego zrozumienia mutacji genetycznych odgrywaj\u0105cych rol\u0119 w spektrum klinicznym HPP\u201d \u2013 powiedzia\u0142 dr Arndt Rolfs, dyrektor generalny CENTOGENE. \u201cJeste\u015bmy g\u0142\u0119boko zaanga\u017cowani w dawanie nadziei pacjentom i ich rodzinom poprzez skr\u00f3cenie drogi diagnostycznej i jeste\u015bmy dumni, \u017ce mo\u017cemy pracowa\u0107 nad tym wa\u017cnym badaniem, maj\u0105cym na celu lepsze zrozumienie mutacji w genie ALPL. Koncentrujemy si\u0119 na wykorzystaniu wniosk\u00f3w z tych bada\u0144, aby przyspieszy\u0107 diagnoz\u0119 naszych pacjent\u00f3w\u201d.\u201d<\/p>\n

HPP to dziedziczna, rzadka choroba metaboliczna charakteryzuj\u0105ca si\u0119 nisk\u0105, nieswoist\u0105 tkankowo aktywno\u015bci\u0105 enzymu fosfatazy alkalicznej (ALP), kt\u00f3ra odgrywa istotn\u0105 rol\u0119 w budowie i utrzymaniu ko\u015bci i z\u0119b\u00f3w. Znane warianty patogenne genu ALPL prowadz\u0105 do HPP, jednak nieznany odsetek pacjent\u00f3w z klinicznie zdiagnozowan\u0105 chorob\u0105 nie jest nosicielami wariant\u00f3w patogennych ALPL. Celem bada\u0144 jest identyfikacja mutacji w genach, kt\u00f3re mog\u0105 powodowa\u0107 fenokopi\u0119 HPP, a tym samym jej mylenie lub brak diagnozy.<\/p>","protected":false},"excerpt":{"rendered":"

Wyniki bada\u0144 mog\u0105 przyczyni\u0107 si\u0119 do lepszego zrozumienia roli gen\u00f3w, kt\u00f3re mog\u0105 przyczynia\u0107 si\u0119 do rozwoju hipofosfatazji.<\/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-2383","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"acf":[],"yoast_head":"\nCENTOGENE Launches Research Study to Unravel the Genetics of Hypophosphatasia | 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\/centogene-rozpoczyna-badania-majace-na-celu-odkrycie-genetyki-hipofosfatazji\/\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta 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