{"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":"centogene-lanza-un-estudio-de-investigacion-para-desentranar-la-genetica-de-la-hipofosfatasia","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/es\/centogene-launches-research-study-to-unravel-the-genetics-of-hypophosphatasia\/","title":{"rendered":"CENTOGENE lanza un estudio de investigaci\u00f3n para desentra\u00f1ar la gen\u00e9tica de la hipofosfatasia"},"content":{"rendered":"

CENTOGENE<\/a> Se anunci\u00f3 hoy un nuevo estudio de investigaci\u00f3n para identificar variantes gen\u00e9ticas en pacientes con hipofosfatasia (HPP). Este estudio multic\u00e9ntrico de un a\u00f1o de duraci\u00f3n se llevar\u00e1 a cabo en Rostock, Alemania, y Bogot\u00e1, Colombia.<\/p>\n

\u201cNos entusiasma aprovechar nuestra experiencia y conocimientos gen\u00e9ticos para identificar y comprender mejor las mutaciones gen\u00e9ticas que influyen en el espectro cl\u00ednico de la HPP\u201d, afirm\u00f3 el Dr. Arndt Rolfs, director ejecutivo de CENTOGENE. \u201cEstamos profundamente comprometidos a brindar esperanza a los pacientes y sus familias acortando el proceso de diagn\u00f3stico, y nos enorgullece trabajar en este importante estudio para comprender mejor las mutaciones en el gen ALPL. Nos centramos en aprovechar los conocimientos adquiridos en esta investigaci\u00f3n para ayudar a acelerar el diagn\u00f3stico de nuestros pacientes\u201d.\u201d<\/p>\n

La HPP es una enfermedad metab\u00f3lica hereditaria rara que se caracteriza por una baja actividad tisular inespec\u00edfica de la enzima fosfatasa alcalina (FA), la cual desempe\u00f1a un papel esencial en la formaci\u00f3n y el mantenimiento de huesos y dientes. Las variantes patog\u00e9nicas conocidas en el gen ALPL causan HPP; sin embargo, un porcentaje desconocido de pacientes con HPP diagnosticados cl\u00ednicamente no son portadores de variantes patog\u00e9nicas de ALPL. La investigaci\u00f3n est\u00e1 dise\u00f1ada para identificar mutaciones en genes que puedan causar una fenocopia de HPP y, por lo tanto, confundirse o no diagnosticarse.<\/p>","protected":false},"excerpt":{"rendered":"

Los resultados de la investigaci\u00f3n pueden proporcionar una comprensi\u00f3n m\u00e1s profunda sobre el papel de los genes que pueden contribuir al desarrollo de la 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\/es\/centogene-lanza-un-estudio-de-investigacion-para-desentranar-la-genetica-de-la-hipofosfatasia\/\" \/>\n<meta property=\"og:locale\" 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