{"id":2410,"date":"2018-05-29T00:00:00","date_gmt":"2018-05-29T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2410"},"modified":"2018-05-29T00:00:00","modified_gmt":"2018-05-29T00:00:00","slug":"umowa-z-aldeyra-therapies","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pl\/agreement-with-aldeyra-therapeutics\/","title":{"rendered":"Umowa z Aldeyra Therapeutics"},"content":{"rendered":"

Firma CENTOGENE og\u0142osi\u0142a dzi\u015b zawarcie umowy z Aldeyra Therapeutics Inc<\/a>., firma biotechnologiczna opracowuj\u0105ca leki nowej generacji, maj\u0105ce na celu popraw\u0119 jako\u015bci \u017cycia pacjent\u00f3w cierpi\u0105cych na choroby o pod\u0142o\u017cu immunologicznym.<\/p>\n

Zgodnie z warunkami umowy, CENTOGENE b\u0119dzie wsp\u00f3\u0142pracowa\u0107 z Aldeyr\u0105 w celu globalnej identyfikacji pacjent\u00f3w z SLS i zrozumienia spektrum klinicznego tej choroby. Celem umowy jest wsparcie lekarzy i pacjent\u00f3w we wczesnej diagnozie poprzez testy genetyczne, kt\u00f3re mog\u0105 potencjalnie doprowadzi\u0107 do zidentyfikowania nowych rozwi\u0105za\u0144 terapeutycznych i zwi\u0119kszenia \u015bwiadomo\u015bci na temat tej choroby.<\/p>\n

\u201cWi\u0119kszo\u015b\u0107 pacjent\u00f3w z rzadk\u0105 chorob\u0105 dziedziczn\u0105 przechodzi d\u0142ug\u0105 drog\u0119 diagnostyczn\u0105, zanim nabierze pewno\u015bci co do swojego stanu. Globalna \u015bwiadomo\u015b\u0107 wyst\u0119powania SLS jest bardzo ograniczona, co oznacza, \u017ce lekarze cz\u0119sto nawet nie my\u015bl\u0105 o SLS, gdy konfrontuj\u0105 si\u0119 z objawami pacjenta i w konsekwencji nie wykonuj\u0105 wymaganych bada\u0144 genetycznych. To wyzwanie jest doskona\u0142ym przyk\u0142adem tego, jak nasza rozleg\u0142a i globalna baza danych wiedzy (CentoMD\u00ae) mo\u017ce przynie\u015b\u0107 ogromne korzy\u015bci jako uniwersalne rozwi\u0105zanie w zakresie opieki zdrowotnej dla spo\u0142eczno\u015bci os\u00f3b z chorobami rzadkimi\u201d \u2013 powiedzia\u0142 dr Arndt Rolfs, dyrektor generalny i za\u0142o\u017cyciel CENTOGENE.<\/p>\n

\u201cPartnerstwo z CENTOGENE uzupe\u0142nia Rejestr Aldeyra dla Pacjent\u00f3w z SLS, kt\u00f3ry zosta\u0142 zaprojektowany, aby zjednoczy\u0107 pacjent\u00f3w i podnie\u015b\u0107 globaln\u0105 \u015bwiadomo\u015b\u0107 na temat tej choroby\u201d \u2013 powiedzia\u0142 dr David Clark, MRCP, AFPM, Dyrektor Medyczny Aldeyra. \u201cDodatkowo, dost\u0119p do genetycznej bazy danych CENTOGENE dotycz\u0105cej pacjent\u00f3w z SLS pokazuje kluczow\u0105 rol\u0119 genetyki w identyfikacji pacjent\u00f3w i opracowywaniu lek\u00f3w na choroby, na kt\u00f3re nie ma lekarstwa\u201d.\u201d<\/p>\n

SLS dziedziczy si\u0119 w spos\u00f3b autosomalny recesywny, a pacjenci wykazuj\u0105 szerokie spektrum objaw\u00f3w, w tym: rybi\u0105 \u0142usk\u0119 (silnie such\u0105, pogrubion\u0105 i \u0142uszcz\u0105c\u0105 si\u0119 sk\u00f3r\u0119), sztywno\u015b\u0107 n\u00f3g oraz op\u00f3\u017anienie funkcji poznawczych. Pacjenci cierpi\u0105cy na SLS nie s\u0105 w stanie prawid\u0142owo rozk\u0142ada\u0107 cz\u0105steczek zwanych aldehydami t\u0142uszczowymi, co prowadzi do ich nieprawid\u0142owego gromadzenia si\u0119, co z kolei prowadzi do wyst\u0105pienia objaw\u00f3w choroby. Obecnie nie ma zatwierdzonego przez FDA leczenia SLS.<\/p>\n

O firmie CENTOGENE<\/h5>\n

CENTOGENE uwalnia potencja\u0142 wiedzy genetycznej, aby poprawi\u0107 jako\u015b\u0107 \u017cycia pacjent\u00f3w z rzadkimi chorobami genetycznymi. Osi\u0105gamy to dzi\u0119ki wiedzy zdobytej dzi\u0119ki naszym globalnym us\u0142ugom bada\u0144 diagnostycznych, uwzgl\u0119dniaj\u0105cym globaln\u0105 r\u00f3\u017cnorodno\u015b\u0107, wiod\u0105cej na \u015bwiecie autorskiej bazie danych interpretacji genetycznej cz\u0142owieka, CentoMD\u00ae, oraz rozwi\u0105zaniom dla firm farmaceutycznych opracowuj\u0105cych leki sieroce, kt\u00f3re zmieniaj\u0105 \u017cycie.<\/p>\n

Jako jedna z najbardziej zr\u00f3\u017cnicowanych i najwi\u0119kszych na \u015bwiecie firm zajmuj\u0105cych si\u0119 testami genetycznymi, CENTOGENE stawia sobie za cel przekszta\u0142canie wiedzy genetycznej w rozwi\u0105zania i nadziej\u0119 dla pacjent\u00f3w i ich rodzin.<\/p>\n

www.centogene.com<\/a> www.centoMD.com<\/a><\/p>\n

O zespole Sj\u00f6grena-Larssona<\/h5>\n

Zesp\u00f3\u0142 Sj\u00f6grena-Larssona to rzadki wrodzony b\u0142\u0105d metabolizmu aldehyd\u00f3w, spowodowany mutacjami w genie dehydrogenazy aldehyd\u00f3w kwas\u00f3w t\u0142uszczowych. Prowadzi on do podwy\u017cszonego poziomu toksycznych aldehyd\u00f3w t\u0142uszczowych, co prawdopodobnie przyczynia si\u0119 do ci\u0119\u017ckiej rybiej \u0142uski (\u0142uszczenie, pogrubienie i sucho\u015b\u0107 sk\u00f3ry), zaburze\u0144 neurologicznych i chor\u00f3b siatk\u00f3wki. Nie ma terapii na SLS zatwierdzonej przez Ameryka\u0144sk\u0105 Agencj\u0119 ds. \u017bywno\u015bci i Lek\u00f3w (FDA).<\/p>","protected":false},"excerpt":{"rendered":"

Firma CENTOGENE og\u0142osi\u0142a dzi\u015b zawarcie umowy z Aldeyra Therapeutics Inc., firm\u0105 biotechnologiczn\u0105 opracowuj\u0105c\u0105 leki nowej generacji, kt\u00f3re maj\u0105 poprawi\u0107 jako\u015b\u0107 \u017cycia pacjent\u00f3w cierpi\u0105cych na choroby o pod\u0142o\u017cu immunologicznym.<\/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-2410","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"acf":[],"yoast_head":"\nAgreement with Aldeyra Therapeutics | 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\/umowa-z-aldeyra-therapies\/\" \/>\n<meta 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