{"id":2274,"date":"2021-05-05T00:00:00","date_gmt":"2021-05-05T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2274"},"modified":"2021-05-05T00:00:00","modified_gmt":"2021-05-05T00:00:00","slug":"centogene-discovers-six-new-rare-diseases-by-leveraging-the-strength-of-its-bio-databank","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pl\/centogene-discovers-six-new-rare-diseases-by-leveraging-the-strength-of-its-bio-databank\/","title":{"rendered":"CENTOGENE odkrywa sze\u015b\u0107 nowych rzadkich chor\u00f3b, wykorzystuj\u0105c si\u0142\u0119 swojego biobanku danych"},"content":{"rendered":"<ul>\n<li>More than half of patients with genetic diseases remain undiagnosed, even after performing Exome and Genome Sequencing<\/li>\n<li>By performing deep genetic analyses and Bio\/Databank mining, CENTOGENE discovers six novel gene-disease associations and evidence supporting 31 candidate genes<\/li>\n<li>Study reveals value of such Bio\/Databanks in diagnosing and accelerating treatment options for rare disease patients<\/li>\n<\/ul>\n<p>CAMBRIDGE, Mass. and ROSTOCK, Germany and BERLIN, May 05, 2021 (GLOBE NEWSWIRE) \u2013 Centogene N.V. (Nasdaq: CNTG), a commercial-stage company focused on rare diseases that transforms real-world clinical and genetic data into actionable information for patients, physicians, and pharmaceutical companies, announced today research revealing six novel gene-disease associations for a wide range of genetic disorders and confirmation of 31 additional candidate genes. The findings are a result of in-depth analyses into the Company\u2019s rare disease Bio\/Databank, after standard genetic testing was unable to determine the exact cause of symptoms. As a result, over 90 patients were able to finally receive a diagnosis \u2013 opening the potential to diagnose countless others following further research. Additionally, these findings have revealed potential treatment options for patients based on known-disease overlaps.<\/p>\n<p>The landmark study\u2019s findings have been published in <a href=\"https:\/\/www.nature.com\/articles\/s41436-021-01159-0\" target=\"_blank\" title=\"Zobacz badanie\">Genetics in Medicine<\/a>&nbsp;\u2013 the official Journal of the American College of Medical Genetics and Genomics.<\/p>\n<p>Prof. Peter Bauer, Chief Genomic Officer at CENTOGENE, said, \u201cThere are more than 7,000 rare diseases that are known to date, and our research shows that there are even more to be identified. We see it as our responsibility to dive deeper into patient information when carrying out genetic testing. In this case, we were able to provide patients with a diagnosis with diseases that were not previously on anyone\u2019s radar. Even more, we were able to help improve their quality of life \u2013 opening up treatment and management options.\u201d<\/p>\n<p>\u201cAlthough technological advancements over the past decade have led to improved diagnostics, our study shows that simply applying a genetic test is not enough,\u201d adds Dr. Aida Bertoli-Avella, Head of Research Data Analysis. \u201cEspecially when it comes to rare diseases, you have to look past the surface \u2013 using advanced tools to reveal the underlying cause of a disease and open up a new world of treatment options.\u201d<\/p>\n<p>The research led to over 90 patients receiving a diagnosis based on the six new revealed rare diseases and 31 candidate genes \u2013 gaining access to future treatment options and improved medical management.<\/p>\n<h2 class=\"h3\">About the Study<\/h2>\n<p>While technology has advanced over the past ten years, more than half of patients with genetic diseases remain undiagnosed, even after applying genome-wide diagnostic approaches. The challenge of variant interpretation remains at the forefront of diagnostic challenges, in part due to the missing gene-phenotype link.<\/p>\n<p>Leveraging CENTOGENE\u2019s rare disease Bio\/Databank, the Company carried out an extensive Exome Sequencing and Genome Sequencing evaluation of genes with no known disease association and patients suffering genetic diseases that had remained undiagnosed. From there, the Company performed analyses on its biobank using specific criteria, which enabled further identification of unrelated patients displaying similar phenotypes. Ultimately, this led to the discovery of six novel gene-disease associations based on 38 severely affected patients with variants in six genes: BLOC1S1, IPO8, MMP15, PLK1, RAP1GDS1, and ZNF699, as well as the elucidation of 31 additional candidate genes.<\/p>\n<p><a class=\"btn btn-secondary btn-sm\" href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/33875846\/\" target=\"_blank\" title=\"Zobacz badanie\">Read the complete study in Genetics in Medicine<\/a><\/p>\n<h3>O firmie CENTOGENE<strong> <\/strong><\/h3>\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 ponad 3,9 miliarda wa\u017conych punkt\u00f3w danych od oko\u0142o 600 000 pacjent\u00f3w z ponad 120 kraj\u00f3w (stan na 31 grudnia 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 proces wprowadzania lek\u00f3w sierocych na rynek przez naszych partner\u00f3w farmaceutycznych. Na dzie\u0144 31 grudnia 2020 r. firma wsp\u00f3\u0142pracowa\u0142a z ponad 30 partnerami farmaceutycznymi.<\/p>\n<h5>Wa\u017cna informacja i wy\u0142\u0105czenie odpowiedzialno\u015bci<\/h5>\n<p>Niniejsza informacja prasowa zawiera stwierdzenia stanowi\u0105ce \u201cstwierdzenia dotycz\u0105ce przysz\u0142o\u015bci\u201d zgodnie z definicj\u0105 tego terminu zawart\u0105 w ameryka\u0144skiej ustawie o reformie przepis\u00f3w procesowych dotycz\u0105cych papier\u00f3w warto\u015bciowych z 1995 r. (Private Securities Litigation Reform Act of 1995), w tym stwierdzenia wyra\u017caj\u0105ce opinie, oczekiwania, przekonania, plany, cele, za\u0142o\u017cenia lub prognozy Sp\u00f3\u0142ki dotycz\u0105ce przysz\u0142ych zdarze\u0144 lub wynik\u00f3w, w przeciwie\u0144stwie do stwierdze\u0144 odzwierciedlaj\u0105cych fakty historyczne. Przyk\u0142adami s\u0105 om\u00f3wienia naszych strategii, plan\u00f3w finansowania, mo\u017cliwo\u015bci rozwoju i wzrostu rynku. W niekt\u00f3rych przypadkach takie stwierdzenia dotycz\u0105ce przysz\u0142o\u015bci mo\u017cna zidentyfikowa\u0107 po terminologii, takiej jak \u201cprzewidywa\u0107\u201d, \u201czamierza\u0107\u201d, \u201cwierzy\u0107\u201d, \u201cszacowa\u0107\u201d, \u201cplanowa\u0107\u201d, \u201cd\u0105\u017cy\u0107\u201d, \u201cprognozowa\u0107\u201d lub \u201coczekiwa\u0107\u201d, \u201cmo\u017ce\u201d, \u201cb\u0119dzie\u201d, \u201cm\u00f3g\u0142by\u201d, \u201cpowinien\u201d \u2013 formy przecz\u0105ce tych termin\u00f3w lub podobne. Stwierdzenia dotycz\u0105ce przysz\u0142o\u015bci oparte s\u0105 na aktualnych przekonaniach i za\u0142o\u017ceniach kierownictwa oraz na informacjach, do kt\u00f3rych Sp\u00f3\u0142ka ma obecnie dost\u0119p. Jednak\u017ce te stwierdzenia dotycz\u0105ce przysz\u0142o\u015bci nie stanowi\u0105 gwarancji naszych wynik\u00f3w i nie nale\u017cy na nich nadmiernie polega\u0107. O\u015bwiadczenia prognostyczne podlegaj\u0105 licznym ryzykom, niepewno\u015bciom i innym zmiennym okoliczno\u015bciom, takim jak niekorzystne warunki gospodarcze na \u015bwiecie oraz ci\u0105g\u0142a niestabilno\u015b\u0107 i zmienno\u015b\u0107 na \u015bwiatowych rynkach finansowych, wp\u0142yw pandemii COVID-19 na nasz\u0105 dzia\u0142alno\u015b\u0107 i wyniki operacyjne, mo\u017cliwe zmiany w obowi\u0105zuj\u0105cych i proponowanych przepisach, regulacjach i polityce rz\u0105dowej, presja wynikaj\u0105ca z rosn\u0105cej konkurencji i konsolidacji w naszej bran\u017cy, koszty i niepewno\u015b\u0107 zwi\u0105zana z uzyskaniem zgody organ\u00f3w regulacyjnych, w tym Ameryka\u0144skiej Agencji ds. \u017bywno\u015bci i Lek\u00f3w (FDA), nasze uzale\u017cnienie od podmiot\u00f3w zewn\u0119trznych i partner\u00f3w, w tym nasza zdolno\u015b\u0107 do zarz\u0105dzania wzrostem i nawi\u0105zywania nowych relacji z klientami, nasza zale\u017cno\u015b\u0107 od bran\u017cy chor\u00f3b rzadkich, nasza zdolno\u015b\u0107 do zarz\u0105dzania ekspansj\u0105 mi\u0119dzynarodow\u0105, nasza zale\u017cno\u015b\u0107 od kluczowego personelu, nasza zale\u017cno\u015b\u0107 od ochrony w\u0142asno\u015bci intelektualnej, wahania naszych wynik\u00f3w operacyjnych spowodowane wp\u0142ywem kurs\u00f3w walutowych lub innymi czynnikami. Takie ryzyka i niepewno\u015bci mog\u0105 spowodowa\u0107, \u017ce o\u015bwiadczenia b\u0119d\u0105 niedok\u0142adne, a czytelnik\u00f3w ostrzega si\u0119 przed nadmiernym poleganiem na takich o\u015bwiadczeniach. Wiele z tych ryzyk jest poza kontrol\u0105 Sp\u00f3\u0142ki i mo\u017ce spowodowa\u0107, \u017ce jej rzeczywiste wyniki b\u0119d\u0105 istotnie r\u00f3\u017cni\u0107 si\u0119 od tych, kt\u00f3rych si\u0119 spodziewa\u0142a. O\u015bwiadczenia prognostyczne zawarte w niniejszym komunikacie prasowym s\u0105 aktualne wy\u0142\u0105cznie na dzie\u0144 jego publikacji. Sp\u00f3\u0142ka nie zobowi\u0105zuje si\u0119, a w szczeg\u00f3lno\u015bci nie zobowi\u0105zuje si\u0119 do aktualizacji takich o\u015bwiadcze\u0144 ani do publicznego og\u0142aszania skutk\u00f3w jakichkolwiek zmian w tych o\u015bwiadczeniach w celu odzwierciedlenia przysz\u0142ych zdarze\u0144 lub wydarze\u0144, z wyj\u0105tkiem przypadk\u00f3w wymaganych przez prawo.<\/p>\n<p>Wi\u0119cej informacji mo\u017cna znale\u017a\u0107 w sekcji \u201eCzynniki ryzyka\u201d w naszym Raporcie Rocznym za rok obrotowy zako\u0144czony 31 grudnia 2020 r., na Formularzu 20-F z\u0142o\u017conym w Komisji Papier\u00f3w Warto\u015bciowych i Gie\u0142d (SEC) 15 kwietnia 2021 r., a tak\u017ce w innych bie\u017c\u0105cych raportach i dokumentach przekazanych lub z\u0142o\u017conych w Komisji Papier\u00f3w Warto\u015bciowych i Gie\u0142d (SEC). Dokumenty te mo\u017cna uzyska\u0107 na stronie EDGAR. <a href=\"http:\/\/www.sec.gov\" target=\"_blank\" title=\"Link do strony internetowej SEC\">na stronie internetowej SEC<\/a>.<\/p>\n<h5>Kontakt dla medi\u00f3w:<\/h5>\n<p>CENTOGENE<br \/> Ben Legg<br \/> Komunikacja korporacyjna<br \/> <a href=\"mailto:press@centogene.com\" title=\"Napisz e-mail\">press@centogene.com<\/a><\/p>\n<p>Doradztwo FTI<br \/> Bridie Lawlor O&#039;Boyle<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>More than half of patients with genetic diseases remain undiagnosed, even after performing Exome and Genome Sequencing By performing deep [&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-2274","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>CENTOGENE Discovers Six New Rare Diseases by Leveraging the Strength of Its Bio\/Databank | 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-discovers-six-new-rare-diseases-by-leveraging-the-strength-of-its-bio-databank\/\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta property=\"og:type\" 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