{"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-launches-research-study-to-unravel-the-genetics-of-hypophosphatasia","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pl\/centogene-launches-research-study-to-unravel-the-genetics-of-hypophosphatasia\/","title":{"rendered":"CENTOGENE rozpoczyna badania maj\u0105ce na celu odkrycie genetyki hipofosfatazji"},"content":{"rendered":"

CENTOGENE<\/a> today announced a new research study to identify genetic variants in patients with hypophosphatasia (HPP). The one year multicentric research study will be conducted in Rostock, Germany and Bogot\u00e1, Colombia.<\/p>\n

\u201cWe are excited to be leveraging our genetic expertise and knowledge to further identify and better understand the genetic mutations that play a role in the clinical spectrum of HPP,\u201d said Dr. Arndt Rolfs, CEO CENTOGENE. \u201cWe are deeply committed to bringing hope to patients and their families by shortening the diagnostic odyssey, and we are proud to be working on this important study to better understand mutations in the ALPL gene. We are focused on leveraging the insights gained from this research to help to accelerate the diagnosis of our patients.\u201d<\/p>\n

HPP is an inherited rare metabolic disease that is characterized by low tissue-nonspecific activity of the enzyme alkaline phosphatase (ALP), which plays an essential role in bone and teeth building and maintenance. Known pathogenic variants in the ALPL gene lead to HPP, however, an unknown percentage of clinically diagnosed HPP patients do not carry ALPL pathogenic variants. The research is designed to identify mutations in genes, that may cause a phenocopy of HPP and therefore being mixed up or not diagnosed.<\/p>","protected":false},"excerpt":{"rendered":"

Wyniki bada\u0144 mog\u0105 przyczyni\u0107 si\u0119 do lepszego zrozumienia roli gen\u00f3w, kt\u00f3re mog\u0105 przyczynia\u0107 si\u0119 do rozwoju hipofosfatazji.<\/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\/pl\/centogene-launches-research-study-to-unravel-the-genetics-of-hypophosphatasia\/\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta 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