{"id":2383,"date":"2019-06-13T00:00:00","date_gmt":"2019-06-13T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2383"},"modified":"2019-06-13T00:00:00","modified_gmt":"2019-06-13T00:00:00","slug":"a-centogene-inicia-estudo-de-pesquisa-para-desvendar-a-genetica-da-hipofosfatasia","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pt\/centogene-launches-research-study-to-unravel-the-genetics-of-hypophosphatasia\/","title":{"rendered":"A CENTOGENE lan\u00e7a estudo de pesquisa para desvendar a gen\u00e9tica da hipofosfatasia."},"content":{"rendered":"

CENTOGENE<\/a> Hoje foi anunciado um novo estudo de pesquisa para identificar variantes gen\u00e9ticas em pacientes com hipofosfatasia (HPP). O estudo multic\u00eantrico, com dura\u00e7\u00e3o de um ano, ser\u00e1 conduzido em Rostock, Alemanha, e Bogot\u00e1, Col\u00f4mbia.<\/p>\n

\u201cEstamos entusiasmados em utilizar nossa experi\u00eancia e conhecimento em gen\u00e9tica para identificar e compreender melhor as muta\u00e7\u00f5es gen\u00e9ticas que desempenham um papel no espectro cl\u00ednico da HPP\u201d, disse o Dr. Arndt Rolfs, CEO da CENTOGENE. \u201cEstamos profundamente comprometidos em trazer esperan\u00e7a aos pacientes e suas fam\u00edlias, encurtando o processo diagn\u00f3stico, e temos orgulho de trabalhar neste importante estudo para entender melhor as muta\u00e7\u00f5es no gene ALPL. Nosso foco \u00e9 aproveitar os conhecimentos obtidos com esta pesquisa para ajudar a acelerar o diagn\u00f3stico de nossos pacientes.\u201d<\/p>\n

A hipofosfatemia prim\u00e1ria (HPP) \u00e9 uma doen\u00e7a metab\u00f3lica rara e heredit\u00e1ria caracterizada pela baixa atividade n\u00e3o espec\u00edfica de tecido da enzima fosfatase alcalina (ALP), que desempenha um papel essencial na forma\u00e7\u00e3o e manuten\u00e7\u00e3o dos ossos e dentes. Variantes patog\u00eanicas conhecidas no gene ALPL levam \u00e0 HPP; no entanto, uma porcentagem desconhecida de pacientes com diagn\u00f3stico cl\u00ednico de HPP n\u00e3o apresenta variantes patog\u00eanicas no gene ALPL. Esta pesquisa visa identificar muta\u00e7\u00f5es em genes que podem causar uma fenoc\u00f3pia da HPP e, portanto, serem confundidas com outras doen\u00e7as ou n\u00e3o diagnosticadas.<\/p>","protected":false},"excerpt":{"rendered":"

Os resultados da pesquisa podem proporcionar uma compreens\u00e3o mais profunda sobre o papel dos genes que contribuem para o desenvolvimento da hipofosfatasia.<\/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-2383","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"acf":[],"yoast_head":"\nCENTOGENE Launches Research Study to Unravel the Genetics of Hypophosphatasia | 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\/pt\/a-centogene-inicia-estudo-de-pesquisa-para-desvendar-a-genetica-da-hipofosfatasia\/\" \/>\n<meta property=\"og:locale\" content=\"pt_BR\" \/>\n<meta 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