{"id":2186,"date":"2023-11-14T00:00:00","date_gmt":"2023-11-14T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2186"},"modified":"2023-11-14T00:00:00","modified_gmt":"2023-11-14T00:00:00","slug":"a-equipe-global-de-pesquisadores-da-centogene-university-college-london-descobre-um-gene-associado-a-uma-nova-doenca-do-neurodesenvolvimento-ligada-a-distonia-e-ao-parkinsonismo-de-inicio-precoce","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pt\/centogene-university-college-london-and-global-team-of-researchers-discover-gene-associated-with-new-neurodevelopmental-disease-linked-to-early-onset-dystonia-and-parkinsonism\/","title":{"rendered":"A CENTOGENE, a University College London e uma equipe global de pesquisadores descobrem um gene associado a uma nova doen\u00e7a do neurodesenvolvimento ligada \u00e0 distonia de in\u00edcio precoce e ao parkinsonismo."},"content":{"rendered":"<h2>Resultados de estudo hist\u00f3rico publicados no peri\u00f3dico Brain Journal<\/h2>\n<ul>\n<li>Uma iniciativa de pesquisa colaborativa utilizou o Sequenciamento de Exoma Completo (WES) da CENTOGENE para revelar um gene causador de doen\u00e7as chamado ACBD6 (Acil-CoA Binding Domain Containing 6).<\/li>\n<li>Ao longo de sete anos, foram identificados um total de 45 indiv\u00edduos afetados, pertencentes a 29 fam\u00edlias independentes no Sudeste Asi\u00e1tico, \u00c1sia Central, Oriente M\u00e9dio, Europa e Am\u00e9ricas do Norte e do Sul.<\/li>\n<li>O estudo orienta pesquisas futuras para potenciais tratamentos, incluindo causas gen\u00e9ticas e vias que levam \u00e0 doen\u00e7a de Parkinson.<\/li>\n<\/ul>\n<p> <strong>CAMBRIDGE, Massachusetts, ROSTOCK, Alemanha e BERLIM, 14 de novembro de 2023 (GLOBE NEWSWIRE)<\/strong> \u2013 A Centogene NV (Nasdaq: CNTG), parceira essencial em ci\u00eancias da vida para respostas baseadas em dados em doen\u00e7as raras e neurodegenerativas, anunciou hoje a descoberta de uma nova forma de distonia e parkinsonismo de in\u00edcio precoce no contexto de anormalidades do neurodesenvolvimento associadas ao gene chamado <em>ACBD6<\/em> (Dom\u00ednio de liga\u00e7\u00e3o a Acil-CoA contendo 6) como parte de uma equipe internacional de pesquisadores. As descobertas do estudo hist\u00f3rico foram publicadas em <em><a href=\"https:\/\/academic.oup.com\/brain\/advance-article\/doi\/10.1093\/brain\/awad380\/7407365\" target=\"_blank\" title=\"Resultados do estudo hist\u00f3rico\">C\u00e9rebro<\/a><\/em>, uma revista cient\u00edfica de refer\u00eancia na \u00e1rea da neurologia, com revis\u00e3o por pares.<\/p>\n<p>O estudo relata dados de 45 pacientes de 29 fam\u00edlias e fornece evid\u00eancias de que variantes patog\u00eanicas bial\u00e9licas no <em>ACBD6<\/em> Um gene leva a uma s\u00edndrome de neurodesenvolvimento distinta, acompanhada por dist\u00farbios cognitivos e de movimento complexos e progressivos. As caracter\u00edsticas cl\u00ednicas foram semelhantes em todos os pacientes, e o estudo identificou um padr\u00e3o cl\u00ednico reconhec\u00edvel que ajudar\u00e1 os m\u00e9dicos a diagnosticar essa doen\u00e7a.<\/p>\n<p>\u201cNos \u00faltimos anos, a CENTOGENE desempenhou um papel fundamental na identifica\u00e7\u00e3o de pacientes relevantes usando o Sequenciamento de Exoma Completo (WES) e fornecendo an\u00e1lises gen\u00f4micas e fenot\u00edpicas, bem como o mapeamento geral de dados cl\u00ednicos\u201d, disse uma das autoras principais do artigo, Dra. Aida Bertoli-Avella, Chefe de An\u00e1lise de Dados de Pesquisa da CENTOGENE. \u201cAs descobertas nos ajudaram a obter uma compreens\u00e3o mais profunda dos dist\u00farbios neurol\u00f3gicos, oferecendo um pr\u00f3ximo passo para o avan\u00e7o de tratamentos e respostas que mudam a vida desses pacientes, suas fam\u00edlias e a comunidade de doen\u00e7as neurol\u00f3gicas em geral.\u201d<\/p>\n<p>Para aprimorar a compreens\u00e3o do mecanismo da doen\u00e7a, a equipe de pesquisa iniciou a cria\u00e7\u00e3o de modelos que possam ajudar a identificar potenciais alvos terap\u00eauticos. Como a doen\u00e7a est\u00e1 associada ao parkinsonismo, uma melhor compreens\u00e3o da fun\u00e7\u00e3o do <em>ACBD6<\/em> Estudos adicionais sobre o gene tamb\u00e9m poder\u00e3o esclarecer as causas gen\u00e9ticas e os mecanismos que levam \u00e0 doen\u00e7a de Parkinson.<\/p>\n<p>O Dr. Reza Maroofian, do Instituto de Neurologia Queen Square da University College London, que liderou o projeto, afirmou: \u201cEste estudo refor\u00e7a a import\u00e2ncia da estreita colabora\u00e7\u00e3o entre laborat\u00f3rios de pesquisa e laborat\u00f3rios de diagn\u00f3stico credenciados, como o CENTOGENE, para encontrar diagn\u00f3sticos moleculares precisos para fam\u00edlias afetadas por doen\u00e7as ultrarraras n\u00e3o diagnosticadas. Essas colabora\u00e7\u00f5es s\u00e3o fundamentais para avan\u00e7armos nossa compreens\u00e3o das doen\u00e7as gen\u00e9ticas e seus mecanismos subjacentes.\u201d<\/p>\n<p>O Prof. Peter Bauer, Diretor de Gen\u00f4mica da CENTOGENE, acrescentou: \u201cAt\u00e9 agora, as causas gen\u00e9ticas dos dist\u00farbios neurol\u00f3gicos permaneciam em grande parte desconhecidas. Este estudo inovador n\u00e3o s\u00f3 nos ajudou a compreender um fator determinante para 45 pacientes, como tamb\u00e9m lan\u00e7ou luz sobre o caminho para uma poss\u00edvel cura para um grupo maior de dist\u00farbios neurol\u00f3gicos, e isso \u00e9 revolucion\u00e1rio. \u00c9 para isso que lutamos todos os dias.\u201d<\/p>\n<p>Para ler o estudo completo, visite: <a href=\"https:\/\/link.centogene.com\/Brain-Publication\" target=\"_blank\" title=\"Publica\u00e7\u00e3o sobre o c\u00e9rebro\">https:\/\/link.centogene.com\/Brain-Publication<\/a><\/p>\n<h3>Sobre a CENTOGENE<\/h3>\n<p>A miss\u00e3o da CENTOGENE \u00e9 fornecer respostas transformadoras e baseadas em dados para pacientes, m\u00e9dicos e empresas farmac\u00eauticas no que diz respeito a doen\u00e7as raras e neurodegenerativas. Integramos tecnologias multi\u00f4micas ao Biobanco CENTOGENE, oferecendo an\u00e1lises dimensionais para orientar a pr\u00f3xima gera\u00e7\u00e3o da medicina de precis\u00e3o. Nossa abordagem exclusiva possibilita diagn\u00f3sticos r\u00e1pidos e confi\u00e1veis para pacientes, apoia uma compreens\u00e3o mais precisa dos estados da doen\u00e7a por parte dos m\u00e9dicos e acelera e reduz os riscos da descoberta, desenvolvimento e comercializa\u00e7\u00e3o de medicamentos direcionados.<\/p>\n<p>Desde a nossa funda\u00e7\u00e3o em 2006, a CENTOGENE oferece diagn\u00f3sticos r\u00e1pidos e confi\u00e1veis, construindo uma rede de aproximadamente 30.000 m\u00e9dicos ativos. Nossos laborat\u00f3rios de refer\u00eancia multi\u00f4mica certificados pela ISO, CAP e CLIA, na Alemanha, utilizam conjuntos de dados fen\u00f4micos, gen\u00f4micos, transcript\u00f4micos, epigen\u00f4micos, prote\u00f4micos e metabol\u00f4micos. Esses dados s\u00e3o armazenados em nosso Biobanco CENTOGENE, com mais de 800.000 pacientes representados por mais de 120 pa\u00edses altamente diversos, dos quais mais de 701.000 s\u00e3o de ascend\u00eancia n\u00e3o europeia. At\u00e9 o momento, o Biobanco CENTOGENE contribuiu para a gera\u00e7\u00e3o de novos conhecimentos para mais de 285 publica\u00e7\u00f5es revisadas por pares.<\/p>\n<p>Ao traduzir nossos dados e experi\u00eancia em insights tang\u00edveis, apoiamos mais de 50 colabora\u00e7\u00f5es com parceiros da ind\u00fastria farmac\u00eautica. Juntos, aceleramos e reduzimos os riscos da descoberta, desenvolvimento e comercializa\u00e7\u00e3o de medicamentos em \u00e1reas como triagem de alvos e f\u00e1rmacos, desenvolvimento cl\u00ednico, acesso e expans\u00e3o de mercado, al\u00e9m de oferecermos Licen\u00e7as de Biodados e Relat\u00f3rios de Insights da CENTOGENE para possibilitar um mundo livre de todas as doen\u00e7as raras e neurodegenerativas.<\/p>\n<p>Para saber mais sobre nossos produtos, projetos em desenvolvimento e prop\u00f3sito centrado no paciente, visite [link]. <a href=\"https:\/\/www.centogene.com\/pt\/?ADMCMD_prev=IGNORE\" title=\"CENTOGENE\">www.centogene.com<\/a>&nbsp;e siga-nos em&nbsp;<a href=\"https:\/\/www.linkedin.com\/company\/centogene\" rel=\"noreferrer\" target=\"_blank\" title=\"LinkedIn\">LinkedIn<\/a>.<\/p>\n<h3>Declara\u00e7\u00f5es prospectivas<\/h3>\n<p>Este comunicado de imprensa cont\u00e9m &quot;declara\u00e7\u00f5es prospectivas&quot; conforme definido pelas leis federais de valores mobili\u00e1rios dos EUA. Declara\u00e7\u00f5es aqui contidas que n\u00e3o sejam claramente de natureza hist\u00f3rica s\u00e3o prospectivas, e palavras como &quot;antecipar&quot;, &quot;acreditar&quot;, &quot;continuar&quot;, &quot;esperar&quot;, &quot;estimar&quot;, &quot;pretender&quot;, &quot;projetar&quot;, &quot;planejar&quot;, &quot;est\u00e1 projetado para&quot;, &quot;potencial&quot;, &quot;prever&quot;, &quot;objetivo&quot; e express\u00f5es semelhantes, bem como verbos no futuro ou no condicional, como &quot;ir\u00e1&quot;, &quot;poderia&quot;, &quot;deveria&quot;, &quot;conseguiria&quot;, &quot;talvez&quot;, &quot;pode&quot; e &quot;pode&quot;, ou suas formas negativas, geralmente t\u00eam o objetivo de identificar declara\u00e7\u00f5es prospectivas. Tais declara\u00e7\u00f5es prospectivas envolvem riscos conhecidos e desconhecidos, incertezas e outros fatores importantes que podem fazer com que os resultados, o desempenho ou as conquistas reais da CENTOGENE sejam materialmente diferentes de quaisquer resultados, desempenho ou conquistas futuros expressos ou impl\u00edcitos nas declara\u00e7\u00f5es prospectivas. Tais riscos e incertezas incluem, entre outros, condi\u00e7\u00f5es econ\u00f4micas e geopol\u00edticas negativas, instabilidade e volatilidade nos mercados financeiros mundiais, poss\u00edveis mudan\u00e7as na legisla\u00e7\u00e3o, regulamenta\u00e7\u00e3o e pol\u00edticas governamentais atuais e propostas, press\u00f5es decorrentes do aumento da concorr\u00eancia e consolida\u00e7\u00e3o em nosso setor, o custo e a incerteza da aprova\u00e7\u00e3o regulat\u00f3ria, inclusive da Food and Drug Administration (FDA) dos EUA, nossa depend\u00eancia de terceiros e parceiros de colabora\u00e7\u00e3o, incluindo nossa capacidade de gerenciar o crescimento, executar nossa estrat\u00e9gia de neg\u00f3cios e estabelecer novos relacionamentos com clientes, nossa depend\u00eancia do setor de doen\u00e7as raras, nossa capacidade de gerenciar a expans\u00e3o internacional, nossa depend\u00eancia de pessoal-chave, nossa depend\u00eancia da prote\u00e7\u00e3o da propriedade intelectual, flutua\u00e7\u00f5es em nossos resultados operacionais devido ao efeito das taxas de c\u00e2mbio, nossa capacidade de otimizar o uso do caixa, nossa cont\u00ednua conformidade com as cl\u00e1usulas contratuais vinculadas a instrumentos financeiros, nossa necessidade de financiamento adicional e nossa capacidade de continuar operando, ou outros fatores. Para obter mais informa\u00e7\u00f5es sobre os riscos e incertezas que podem fazer com que os resultados reais sejam diferentes daqueles expressos nessas declara\u00e7\u00f5es prospectivas, bem como sobre os riscos relacionados aos neg\u00f3cios da CENTOGENE em geral, consulte os fatores de risco da CENTOGENE descritos no Formul\u00e1rio 20-F da CENTOGENE, arquivado em 16 de maio de 2023 junto \u00e0 Comiss\u00e3o de Valores Mobili\u00e1rios dos EUA (a \u201cSEC\u201d), e em arquivamentos subsequentes junto \u00e0 SEC. Quaisquer declara\u00e7\u00f5es prospectivas contidas neste comunicado \u00e0 imprensa referem-se apenas \u00e0 data deste documento, e a CENTOGENE se isenta especificamente de qualquer obriga\u00e7\u00e3o de atualizar qualquer declara\u00e7\u00e3o prospectiva, seja como resultado de novas informa\u00e7\u00f5es, eventos futuros ou outros fatores.<\/p>\n<h5>CONTATO<\/h5>\n<p>CENTOGENE&nbsp;<br \/> Melissa Hall<br \/> Comunica\u00e7\u00e3o Corporativa<br \/> <a href=\"mailto:Press@centogene.com\" title=\"Melissa Hall\">Press@centogene.com<\/a><\/p>\n<p>Lennart Streibel<br \/> Rela\u00e7\u00f5es com Investidores<br \/> <a href=\"mailto:IR@centogene.com\" title=\"Lennart Streibel\">IR@centogene.com<\/a><\/p>","protected":false},"excerpt":{"rendered":"<p>Resultados de estudo hist\u00f3rico publicados no peri\u00f3dico Brain 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