{"id":2420,"date":"2018-02-28T00:00:00","date_gmt":"2018-02-28T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2420"},"modified":"2018-02-28T00:00:00","modified_gmt":"2018-02-28T00:00:00","slug":"nowe-odkrycia-w-leukodystrofii-hipomielinizacyjnej","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pl\/new-findings-in-hypomyelinating-leukodystrophy\/","title":{"rendered":"Nowe odkrycia w leukodystrofii hipomielinizacyjnej"},"content":{"rendered":"

CENTOGENE opublikowa\u0142 artyku\u0142 naukowy, kt\u00f3ry jeszcze bardziej poszerza wiedz\u0119 na temat niedawno zidentyfikowanej choroby m\u00f3zgu, zwanej leukodystrofiami hipomielinizuj\u0105cymi (HLD) (\u201cRozszerzenie spektrum klinicznego i genetycznego zaburze\u0144 zwi\u0105zanych z NKX6-2,<\/a>\u201dGenetyka Kliniczna; doi: 10.1111\/cge.13221). HLD to grupa zaburze\u0144 neurorozwojowych, kt\u00f3re wp\u0142ywaj\u0105 na prawid\u0142owe tworzenie os\u0142onki mielinowej w m\u00f3zgu i dlatego nazywane s\u0105 chorobami istoty bia\u0142ej. Charakteryzuj\u0105 si\u0119 one g\u0142\u00f3wnie napadami padaczkowymi, op\u00f3\u017anieniem rozwoju i niepe\u0142nosprawno\u015bci\u0105 intelektualn\u0105.<\/p>\n

Dzi\u0119ki sekwencjonowaniu nowej generacji, my i nasi mi\u0119dzynarodowi partnerzy byli\u015bmy w stanie scharakteryzowa\u0107 nowe warianty genetyczne w przypadkach NKX6-2. Dwoma kluczowymi czynnikami w tych rzadkich chorobach s\u0105 objawy kliniczne w wi\u0119kszych kohortach oraz interakcja mi\u0119dzy indywidualn\u0105 mutacj\u0105 a ci\u0119\u017cko\u015bci\u0105 choroby. Regresja rozwoju jest ewidentnie wcze\u015bniej niedocenian\u0105 cech\u0105 kliniczn\u0105.<\/p>\n

\u201cKontynuuj\u0105c dzia\u0142ania z ubieg\u0142ego roku, g\u0142\u00f3wny cel badawczy Dnia Chor\u00f3b Rzadkich 2018 wyra\u017anie podkre\u015bla, \u017ce badania stanowi\u0105 pocz\u0105tek i podstaw\u0119 ka\u017cdej kolejnej procedury medycznej. Cieszymy si\u0119, \u017ce nasze odkrycia poszerzaj\u0105 wiedz\u0119 kliniczn\u0105 i genetyczn\u0105 na temat tej choroby oraz zidentyfikowa\u0142y nowy marker genetyczny zwi\u0105zany z t\u0105 postaci\u0105 HLD\u201d \u2013 powiedzia\u0142 profesor Peter Bauer, dr n. med., dyrektor ds. bada\u0144 w CENTOGENE. \u201cPublikacje takie jak ta podkre\u015blaj\u0105 bogactwo danych genetycznych dotycz\u0105cych chor\u00f3b rzadkich, zgromadzonych w naszej bazie danych CentoMD\u00ae, najwi\u0119kszej na \u015bwiecie bazie danych mutacji chor\u00f3b rzadkich, kt\u00f3ra mo\u017ce znacznie skr\u00f3ci\u0107 czas potrzebny na diagnoz\u0119 i potencjalne leczenie tych pacjent\u00f3w\u201d.\u201d<\/p>","protected":false},"excerpt":{"rendered":"

Dzi\u0119ki sekwencjonowaniu nowej generacji, my i nasi mi\u0119dzynarodowi partnerzy byli\u015bmy w stanie scharakteryzowa\u0107 nowe warianty genetyczne w przypadkach NKX6-2. Dowiedz si\u0119 wi\u0119cej o dw\u00f3ch kluczowych czynnikach, kt\u00f3re wp\u0142yn\u0119\u0142y na badania!<\/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-2420","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"acf":[],"yoast_head":"\nNew findings in hypomyelinating leukodystrophy | 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\/nowe-odkrycia-w-leukodystrofii-hipomielinizacyjnej\/\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"New findings in hypomyelinating leukodystrophy | CENTOGENE\" \/>\n<meta property=\"og:description\" content=\"Using next generation sequencing, we and our international partners were able to characterize new genetic variants in NKX6-2 cases. 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