{"id":2328,"date":"2020-08-11T00:00:00","date_gmt":"2020-08-11T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2328"},"modified":"2020-08-11T00:00:00","modified_gmt":"2020-08-11T00:00:00","slug":"aktualizacja-centomdr-ujawnia-dalsze-informacje-na-temat-rzadkich-chorob","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pl\/centomdr-update-reveals-further-insights-into-rare-diseases\/","title":{"rendered":"Aktualizacja CentoMD\u00ae ujawnia dalsze informacje na temat rzadkich chor\u00f3b"},"content":{"rendered":"<p>CAMBRIDGE, Massachusetts, oraz ROSTOCK i BERLIN, Niemcy, 11 sierpnia 2020 r. \u2013 Centogene NV (Nasdaq: CNTG), firma komercyjna specjalizuj\u0105ca si\u0119 w chorobach rzadkich, kt\u00f3ra przekszta\u0142ca rzeczywiste dane kliniczne i genetyczne w praktyczne informacje dla pacjent\u00f3w, lekarzy i firm farmaceutycznych, og\u0142osi\u0142a dzi\u015b wydanie CentoMD\u00ae 5.8 \u2013 najnowszej aktualizacji starannie opracowanej bazy danych mutacji dla chor\u00f3b rzadkich, obejmuj\u0105cej dane epidemiologiczne, fenotypowe i kliniczne. Od grudnia 2019 r. liczba przeanalizowanych przypadk\u00f3w w CentoMD\u00ae wzros\u0142a do ponad 430 000, a ca\u0142kowita liczba unikalnych wariant\u00f3w wzros\u0142a do ponad 12,7 miliona, obejmuj\u0105c ponad 120 kraj\u00f3w.<\/p>\n<p>Najnowsza aktualizacja podkre\u015bla sta\u0142e zaanga\u017cowanie firmy w pog\u0142\u0119bianie wiedzy na temat chor\u00f3b rzadkich, w tym o wariantach chorobotw\u00f3rczych, precyzyjnych informacjach genetycznych i biomarkerowych oraz cz\u0119sto\u015bci alleli. CentoMD\u00ae 5.8 obejmuje:<\/p>\n<ul>\n<li>Ponad 12,7 miliona unikalnych wariant\u00f3w<\/li>\n<li>Ponad 81 000 sklasyfikowanych i wyselekcjonowanych wariant\u00f3w<\/li>\n<li>Ponad 199 000 os\u00f3b powi\u0105zanych z terminami HPO<\/li>\n<\/ul>\n<p>Prof. Arndt Rolfs, dyrektor generalny CENTOGENE, powiedzia\u0142: \u201cCentoMD\u00ae, nasza najwi\u0119ksza na \u015bwiecie, starannie opracowana baza danych mutacji w chorobach rzadkich, odgrywa nieocenion\u0105 rol\u0119 w u\u0142atwianiu postawienia jak najbardziej kompleksowej diagnozy pacjentom cierpi\u0105cym na te choroby. Dzi\u0119ki najnowszym i najdok\u0142adniejszym informacjom jeste\u015bmy w stanie nadal niwelowa\u0107 luk\u0119 mi\u0119dzy wariantami genetycznymi a interpretacj\u0105 kliniczn\u0105 \u2013 ostatecznie ko\u0144cz\u0105c diagnostyczne eskapady pacjent\u00f3w i przyspieszaj\u0105c rozw\u00f3j ratuj\u0105cych \u017cycie metod leczenia\u2019.\u201d<\/p>\n<p>Dr Volkmar Weckesser, dyrektor ds. informatyki w CENTOGENE, doda\u0142: \u201cNieustannie d\u0105\u017cymy do dostarczania jak najbardziej szczeg\u00f3\u0142owych, opartych na dowodach naukowych informacji genetycznych, proteomicznych i metabolicznych. Z ka\u017cd\u0105 aktualizacj\u0105 jeste\u015bmy w stanie poszerzy\u0107 nasz\u0105 wiedz\u0119 na temat chor\u00f3b rzadkich \u2013 oferuj\u0105c rozwi\u0105zania pacjentom, lekarzom i partnerom farmaceutycznym na ca\u0142ym \u015bwiecie\u201d.\u201d<\/p>\n<p>Firma niedawno opublikowa\u0142a r\u00f3wnie\u017c aktualizacj\u0119 platformy CentoLSD\u2122, uwa\u017canej za najwi\u0119ksz\u0105 na \u015bwiecie, opart\u0105 na wiedzy baz\u0119 danych chor\u00f3b spichrzeniowych lizosom\u00f3w (\u201cLSD\u201d), maj\u0105c\u0105 na celu poszerzenie globalnej wiedzy i zwi\u0119kszenie potencjalnych mo\u017cliwo\u015bci leczenia pacjent\u00f3w z chorobami rzadkimi. Oparta na platformie CentoMD\u00ae, platforma CentoLSD\u2122 umo\u017cliwia badaczom, partnerom farmaceutycznym i klinicystom dost\u0119p do kompleksowej bazy wariant\u00f3w genetycznych GBA i GLA, sklasyfikowanych za pomoc\u0105 ujednoliconego procesu selekcji.<\/p>\n<h2 class=\"h3\">O firmie CENTOGENE<\/h2>\n<p>CENTOGENE zajmuje si\u0119 diagnostyk\u0105 i badaniami nad chorobami rzadkimi, przekszta\u0142caj\u0105c rzeczywiste dane kliniczne i genetyczne w praktyczne informacje dla pacjent\u00f3w, lekarzy i firm farmaceutycznych. Naszym celem jest racjonalizacja decyzji terapeutycznych i przyspieszenie rozwoju nowych lek\u00f3w sierocych, wykorzystuj\u0105c nasz\u0105 rozleg\u0142\u0105 wiedz\u0119 na temat chor\u00f3b rzadkich, w tym dane epidemiologiczne i kliniczne, a tak\u017ce innowacyjne biomarkery. CENTOGENE opracowa\u0142o globaln\u0105, autorsk\u0105 platform\u0119 chor\u00f3b rzadkich opart\u0105 na naszym repozytorium danych z rzeczywistego \u015bwiata, obejmuj\u0105cym oko\u0142o 3 miliardy wa\u017conych punkt\u00f3w danych od ponad 530 000 pacjent\u00f3w z ponad 120 kraj\u00f3w (stan na 31 marca 2020 r.).<\/p>\n<p>Platforma firmy obejmuje dane epidemiologiczne, fenotypowe i genetyczne, kt\u00f3re odzwierciedlaj\u0105 globaln\u0105 populacj\u0119, a tak\u017ce biobank pr\u00f3bek krwi tych pacjent\u00f3w. CENTOGENE uwa\u017ca, \u017ce jest to jedyna platforma, kt\u00f3ra kompleksowo analizuje dane wielopoziomowe w celu lepszego zrozumienia rzadkich chor\u00f3b dziedzicznych, co mo\u017ce pom\u00f3c w identyfikacji pacjent\u00f3w i usprawni\u0107 wprowadzanie lek\u00f3w sierocych na rynek przez naszych partner\u00f3w farmaceutycznych. Na dzie\u0144 31 marca 2020 r. firma wsp\u00f3\u0142pracowa\u0142a z 39 partnerami farmaceutycznymi, obejmuj\u0105cymi ponad 45 r\u00f3\u017cnych chor\u00f3b rzadkich.<\/p>\n<p><strong>Kontakt dla medi\u00f3w:<\/strong><\/p>\n<p>CENTOGENE<br \/> Melissa Hall<br \/> Komunikacja korporacyjna<br \/> <a href=\"mailto:press@centogene.com\" title=\"Napisz e-mail\">press@centogene.com<\/a><\/p>\n<p>MC Services AG<br \/> Anne Hennecke \/ Susanne Kutter<br \/> +49 211 529252 22 \/ +49 211 529252 27<br \/> <a href=\"mailto:centogene@mc-services.eu\" title=\"Napisz e-mail\">centogene@mc-services.eu<\/a><\/p>\n<p>Doradztwo FTI<br \/> Bridie Lawlor<br \/> +1.917.929.5684<br \/> <a href=\"mailto:bridie.lawlor@fticonsulting.com\" title=\"Napisz e-mail\">bridie.lawlor@fticonsulting.com<\/a><\/p>","protected":false},"excerpt":{"rendered":"<p>CAMBRIDGE, Mass., and ROSTOCK and BERLIN, Germany, August 11, 2020 \u2013 Centogene N.V. (Nasdaq: CNTG), a commercial-stage company focused on [&hellip;]<\/p>\n","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-2328","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>CentoMD\u00ae Update Reveals Further Insights Into 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\/aktualizacja-centomdr-ujawnia-dalsze-informacje-na-temat-rzadkich-chorob\/\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"CentoMD\u00ae Update Reveals Further Insights Into Rare Diseases | CENTOGENE\" \/>\n<meta property=\"og:description\" content=\"CAMBRIDGE, Mass., and ROSTOCK and BERLIN, Germany, August 11, 2020 \u2013 Centogene N.V. 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