{"id":2419,"date":"2018-02-28T00:00:00","date_gmt":"2018-02-28T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2419"},"modified":"2018-02-28T00:00:00","modified_gmt":"2018-02-28T00:00:00","slug":"inicjatywa-50-nowych-genow-dotyczaca-rzadkich-chorob","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pl\/50-new-genes-initiative-un-rare-rare-diseases\/","title":{"rendered":"\u201cInicjatywa \u201d50+ nowych gen\u00f3w\u201c \u2013 rzadkie choroby \u201dUn-Rare\u201d"},"content":{"rendered":"<p>Zidentyfikowano ponad 7000 rzadkich chor\u00f3b, w kt\u00f3rych oko\u0142o gen 80% jest dziedziczny. Obecnie oko\u0142o 30 milion\u00f3w Amerykan\u00f3w \u017cyje z rzadk\u0105 chorob\u0105; na ca\u0142ym \u015bwiecie dotkni\u0119tych jest ni\u0105 ponad 350 milion\u00f3w os\u00f3b. W przypadku wi\u0119kszo\u015bci rzadkich chor\u00f3b genetycznych podstawowa wiedza, patofizjologia, naturalny przebieg choroby oraz zrozumienie metod badania i monitorowania s\u0105 ograniczone lub w og\u00f3le niedost\u0119pne. To znacznie utrudnia diagnozowanie i leczenie tych chor\u00f3b. Jednak wczesna diagnoza ma kluczowe znaczenie dla wi\u0119kszo\u015bci pacjent\u00f3w.<\/p>\n<p>Dr Arndt Rolfs, prezes CENTOGENE, stwierdza: \u201cAby wcze\u015bnie diagnozowa\u0107 rzadkie choroby dziedziczne, musimy zdj\u0105\u0107 ci\u0119\u017car z bark\u00f3w klinicyst\u00f3w i przenie\u015b\u0107 go na laboratoria. Nawet najbardziej uznany ekspert kliniczny nie jest w stanie prawid\u0142owo zdiagnozowa\u0107 wszystkich znanych rzadkich chor\u00f3b genetycznych. To powa\u017cny problem dla spo\u0142ecze\u0144stwa, a tym bardziej dla pacjenta dotkni\u0119tego t\u0105 chorob\u0105 i cz\u0142onk\u00f3w jego rodziny. Problem ten wynika z trudno\u015bci diagnostycznych, z jakimi boryka si\u0119 wi\u0119kszo\u015b\u0107 tych pacjent\u00f3w\u201d.\u201d<\/p>\n<p>Wprowadzenie systematycznych metod bada\u0144 przesiewowych, sekwencjonowanie ca\u0142ego genomu (WGS) i badania proteomiczne oparte na MS\/MS ju\u017c poprawi\u0142o sytuacj\u0119 pacjent\u00f3w cierpi\u0105cych na rzadkie choroby, mimo \u017ce te metody s\u0105 dopiero w powijakach.<\/p>\n<p>CENTOGENE rozpoczyna program maj\u0105cy na celu scharakteryzowanie co najmniej 50 nowych gen\u00f3w rocznie \u2013 ujawniaj\u0105c nowy \u015bwiat rzadkich chor\u00f3b dziedzicznych. Strategia analityczna opiera si\u0119 na systematycznym po\u0142\u0105czeniu WGS i podej\u015bcia proteomicznego o wysokiej zawarto\u015bci w pr\u00f3bkach klinicznych. Wierzymy, \u017ce to po\u0142\u0105czenie diagnostycznych strategii przesiewowych gen\u00f3w i bia\u0142ek u ka\u017cdego pacjenta z rzadkim schorzeniem genetycznym pozwoli na identyfikacj\u0119 w ci\u0105gu najbli\u017cszych 10 lat ponad 95% wszystkich rzadkich chor\u00f3b dziedzicznych.<\/p>","protected":false},"excerpt":{"rendered":"<p>Istnieje ponad 7000 rzadkich chor\u00f3b, w kt\u00f3rych oko\u0142o 80% jest dziedziczne. W przypadku wi\u0119kszo\u015bci rzadkich chor\u00f3b genetycznych wiedza jest ograniczona lub w og\u00f3le niedost\u0119pna. Wi\u0119cej informacji o inicjatywie CENTOGENE na rzecz zapobiegania rzadkim chorobom mo\u017cna znale\u017a\u0107 na naszej stronie internetowej.<\/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-2419","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>&quot;50+new genes&quot; initiative - &quot;Un-Rare&quot; rare diseases | 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\/inicjatywa-50-nowych-genow-dotyczaca-rzadkich-chorob\/\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"&quot;50+new genes&quot; initiative - &quot;Un-Rare&quot; rare diseases | CENTOGENE\" \/>\n<meta property=\"og:description\" content=\"There are more than 7,000 rare diseases where about 80% are hereditary. 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