{"id":2250,"date":"2021-09-29T00:00:00","date_gmt":"2021-09-29T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2250"},"modified":"2021-09-29T00:00:00","modified_gmt":"2021-09-29T00:00:00","slug":"centogenes-ground-breaking-family-genetic-research-published-in-the-new-england-journal-of-medicine-reveals-path-to-potential-cure-for-structural-birth-defects","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pl\/centogenes-ground-breaking-family-genetic-research-published-in-the-new-england-journal-of-medicine-reveals-path-to-potential-cure-for-structural-birth-defects\/","title":{"rendered":"Prze\u0142omowe badania genetyczne nad rodzin\u0105 firmy CENTOGENE opublikowane w czasopi\u015bmie \u201eNew England Journal of Medicine\u201d ujawniaj\u0105 \u015bcie\u017ck\u0119 do potencjalnego leczenia strukturalnych wad wrodzonych"},"content":{"rendered":"<p>CAMBRIDGE, Mass. and ROSTOCK, Germany and BERLIN, Sept. 29, 2021 (GLOBE NEWSWIRE)<\/p>\n<ul>\n<li>Collaborative research utilized insights gained from CENTOGENE\u2019s rare disease-centric Bio\/Databank to help analyze data of more than 20,000 families<\/li>\n<li>Enabled testing of successful targeted therapeutic approach that restored embryonic development in preclinical models of birth defects<\/li>\n<li>Results reflect a major step towards treatment options for the approximately 4 million infants every year that are born with structural birth defects<\/li>\n<\/ul>\n<p>Centogene N.V. (Nasdaq: CNTG), a commercial-stage company focused on generating data-driven insights to diagnose, understand, and treat rare diseases, announced today the publication of results from a ground-breaking global genetic study <a href=\"http:\/\/www.nejm.org\/doi\/full\/10.1056\/NEJMoa2033911\" target=\"_blank\" title=\"View the publication\">in the New England Journal of Medicine<\/a>, including findings of a potential treatment of structural birth defects caused by specific gene alterations.<\/p>\n<p>Structural birth defects, such as cleft palate, occur in approximately 3% of live births worldwide. The collaborative research study utilized data derived from CENTOGENE\u2019s rare disease-centric Bio\/Databank. The analysis revealed that genetic variations affecting a central Wnt regulator \u2013 WLS \u2013 causes syndromic structural birth defects. The Wnt signalling pathway regulates cellular development, particularly at the embryonic stage. The researchers were able to administer a pharmacologic Wnt agonist that partially restored erroneous embryonic development in preclinical studies. Accordingly, this research is an important step in potentially preventing and curing syndromes and structural birth defects linked to WLS dysfunction.<\/p>\n<p>If this method demonstrates translational robustness, it offers an opportunity for drug developers to capitalize on these insights with a clinical program that could be completed within the next 3-5 years \u2013 opening up the potential of bringing a treatment to market and helping a number of the estimated 4 million infants that are born with serious birth defects every year.<\/p>\n<p>Prof. Peter Bauer, Chief Genomic Officer at CENTOGENE, said, \u201cUp until now, the genetic causes of structural birth defects have remained largely unknown. This groundbreaking study has now not only helped us to understand a driving factor of these defects, but has shed light on the way to a potential cure \u2013 and that is game changing. That is what we are striving for every day.\u201d<\/p>\n<p>\u201cThe study results are a perfect reflection of the significance of data and cross-institutional collaboration,\u201d adds Dr. Aida Bertoli-Avella, Head of Research Data Analysis. \u201cThe findings have helped us gain a deeper understanding of synodomic structural birth defects and put us on the right path with preclinical models \u2013 offering a next step towards advancing widespread pharmacological treatments.\u201d<\/p>\n<p>This study represents another significant step forward for CENTOGENE\u2019s mission to enable the cure of 100 rare diseases within the next 10 years.<\/p>\n<p><a class=\"btn btn-secondary btn-sm\" href=\"https:\/\/www.centogene.com\/pl\/virtual-investor-event\/\" target=\"_blank\" title=\"Wi\u0119cej informacji\">Dowiedz si\u0119 wi\u0119cej<\/a><\/p>\n<h2 class=\"h3\">O badaniu<\/h2>\n<p>The collaboration was led by scientists of the Rady Children\u2019s Institute for Genomic Medicine, San Diego, and A*STAR, Singapore, and the research queried CENTOGENE\u2019s Bio\/Databank and others globally to identify the cohort. A total of 20,248 families with children suffering from neurodevelopmental disorders, as well as parental consanguinity, were identified. Approximately one-third of the affected children presented with structural birth defects or microcephaly. Patients then underwent Exome and Genome Sequencing to identify genes with biallelic pathogenic or likely-pathogenic mutations. After identifying disease-causing variants, researchers generated two models to understand the disease pathophysiology and to test candidate treatments. The administration of a pharmacologic Wnt agonist proved to be successful and partially restored embryonic development in mouse models. Read the complete study in the<a href=\"http:\/\/www.nejm.org\/doi\/full\/10.1056\/NEJMoa2033911\" target=\"_blank\" title=\"Read the study\"> New England Journal of Medicine.<\/a><\/p>\n<h4>O firmie CENTOGENE<\/h4>\n<p>CENTOGENE zajmuje si\u0119 diagnostyk\u0105 i badaniami nad chorobami rzadkimi, przekszta\u0142caj\u0105c rzeczywiste dane kliniczne, genetyczne i multiomiczne w celu diagnozowania, zrozumienia i leczenia chor\u00f3b rzadkich. Naszym celem jest racjonalizacja decyzji terapeutycznych i przyspieszenie rozwoju nowych lek\u00f3w sierocych poprzez wykorzystanie naszej rozleg\u0142ej wiedzy i danych na temat chor\u00f3b rzadkich. CENTOGENE opracowa\u0142o globaln\u0105, autorsk\u0105 platform\u0119 bada\u0144 nad chorobami rzadkimi opart\u0105 na naszym repozytorium danych z rzeczywistego \u015bwiata, zawieraj\u0105cym ponad 3,9 miliarda wa\u017conych punkt\u00f3w danych od oko\u0142o 600 000 pacjent\u00f3w z ponad 120 kraj\u00f3w.<\/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 pacjent\u00f3w i kultur kom\u00f3rkowych. CENTOGENE uwa\u017ca, \u017ce jest to jedyna platforma skoncentrowana na kompleksowej analizie danych wielopoziomowych w celu lepszego zrozumienia rzadkich chor\u00f3b dziedzicznych. Umo\u017cliwia ona lepsz\u0105 identyfikacj\u0119 i stratyfikacj\u0119 pacjent\u00f3w oraz ich chor\u00f3b podstawowych, co umo\u017cliwia i przyspiesza odkrywanie, rozw\u00f3j i dost\u0119p do lek\u00f3w sierocych. Na dzie\u0144 31 grudnia 2020 r. firma wsp\u00f3\u0142pracowa\u0142a z ponad 30 partnerami farmaceutycznymi.<\/p>\n<h4>O\u015bwiadczenia prognostyczne<\/h4>\n<p>Niniejsza informacja prasowa zawiera \u201co\u015bwiadczenia prognostyczne\u201d w rozumieniu federalnych przepis\u00f3w dotycz\u0105cych papier\u00f3w warto\u015bciowych w Stanach Zjednoczonych. Zawarte w niej o\u015bwiadczenia, kt\u00f3re nie maj\u0105 jednoznacznie historycznego charakteru, maj\u0105 charakter prognostyczny, a s\u0142owa \u201cprzewidywa\u0107\u201d, \u201cwierzy\u0107\u201d, \u201ckontynuowa\u0107\u201d, \u201coczekiwa\u0107\u201d, \u201cszacowa\u0107\u201d, \u201czamierza\u0107\u201d, \u201cprognozowa\u0107\u201d oraz podobne wyra\u017cenia i czasowniki w czasie przysz\u0142ym lub warunkowym, takie jak \u201cb\u0119dzie\u201d, \u201cby\u0142by\u201d, \u201cpowinien\u201d, \u201cm\u00f3g\u0142by\u201d, \u201cmo\u017ce\u201d, \u201cmo\u017ce\u201d i \u201cmo\u017ce\u201d, maj\u0105 na celu identyfikacj\u0119 o\u015bwiadcze\u0144 prognostycznych. Takie o\u015bwiadczenia prognostyczne wi\u0105\u017c\u0105 si\u0119 ze znanymi i nieznanymi ryzykami, niepewno\u015bciami i innymi istotnymi czynnikami, kt\u00f3re mog\u0105 spowodowa\u0107, \u017ce rzeczywiste wyniki, efektywno\u015b\u0107 lub osi\u0105gni\u0119cia CENTOGENE b\u0119d\u0105 istotnie r\u00f3\u017cni\u0107 si\u0119 od jakichkolwiek przysz\u0142ych wynik\u00f3w, efektywno\u015bci lub osi\u0105gni\u0119\u0107 wyra\u017conych lub dorozumianych w o\u015bwiadczeniach prognostycznych. Do takich ryzyk i niepewno\u015bci nale\u017c\u0105 m.in. negatywne warunki gospodarcze na ca\u0142ym \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 politykach rz\u0105dowych, presja wynikaj\u0105ca ze wzrostu konkurencji i konsolidacji w naszej bran\u017cy, koszty i niepewno\u015b\u0107 zwi\u0105zana z zatwierdzeniem regulacyjnym, w tym przez Ameryka\u0144sk\u0105 Agencj\u0119 ds. \u017bywno\u015bci i Lek\u00f3w (FDA), nasze uzale\u017cnienie od stron trzecich 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 walut lub innych czynnik\u00f3w. Aby uzyska\u0107 wi\u0119cej informacji na temat ryzyka i niepewno\u015bci, kt\u00f3re mog\u0105 spowodowa\u0107, \u017ce rzeczywiste wyniki b\u0119d\u0105 si\u0119 r\u00f3\u017cni\u0107 od tych wyra\u017conych w niniejszych o\u015bwiadczeniach prognostycznych, a tak\u017ce ryzyka zwi\u0105zanego z dzia\u0142alno\u015bci\u0105 CENTOGENE og\u00f3lnie, zapoznaj si\u0119 z czynnikami ryzyka CENTOGENE przedstawionymi w formularzu 20-F z\u0142o\u017conym przez CENTOGENE 15 kwietnia 2021 r. w Komisji Papier\u00f3w Warto\u015bciowych i Gie\u0142d (SEC) oraz w p\u00f3\u017aniejszych dokumentach z\u0142o\u017conych w SEC. Wszelkie o\u015bwiadczenia prognostyczne zawarte w niniejszym komunikacie prasowym obowi\u0105zuj\u0105 wy\u0142\u0105cznie na dzie\u0144 jego sporz\u0105dzenia, a CENTOGENE wyra\u017anie zrzeka si\u0119 obowi\u0105zku aktualizacji jakichkolwiek o\u015bwiadcze\u0144 prognostycznych, niezale\u017cnie od tego, czy wynika to z nowych informacji, przysz\u0142ych zdarze\u0144, czy z innych przyczyn.<\/p>\n<h5>Contacts:<\/h5>\n<p>CENTOGENE<br \/> Ben Legg&nbsp;<br \/> Komunikacja korporacyjna<br \/> <a href=\"mailto:Ben.Legg@centogene.com\" title=\"Napisz e-mail\">ben.legg@centogene.com<\/a><\/p>\n<p>Lennart Streibel &nbsp;&nbsp;<br \/> Relacje inwestorskie<br \/> <a href=\"mailto:investor.relations@centogene.com\" title=\"Napisz e-mail\">investor.relations@centogene.com<\/a><\/p>\n<p>Doradztwo FTI<br \/> Robert Stanislaro<br \/> <a href=\"mailto:robert.stanislaro@fticonsulting.com\" title=\"Napisz e-mail\">robert.stanislaro@fticonsulting.com<\/a><\/p>\n<p>Rachel Kleiman<br \/> <a href=\"mailto:link rachel.kleiman@fticonsulting.com\" title=\"Napisz e-mail\">rachel.kleiman@fticonsulting.com<\/a><br \/> &nbsp;<\/p>","protected":false},"excerpt":{"rendered":"<p>CAMBRIDGE, Mass. and ROSTOCK, Germany and BERLIN, Sept. 29, 2021 (GLOBE NEWSWIRE) Collaborative research utilized insights gained from CENTOGENE\u2019s rare [&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-2250","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\u2019s Ground-Breaking Family Genetic Research Published in the New England Journal of Medicine Reveals Path to Potential 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