{"id":2420,"date":"2018-02-28T00:00:00","date_gmt":"2018-02-28T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2420"},"modified":"2018-02-28T00:00:00","modified_gmt":"2018-02-28T00:00:00","slug":"nuevos-hallazgos-en-la-leucodistrofia-hipomielinizante","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/es\/new-findings-in-hypomyelinating-leukodystrophy\/","title":{"rendered":"Nuevos hallazgos en la leucodistrofia hipomielinizante"},"content":{"rendered":"

CENTOGENE ha publicado un art\u00edculo cient\u00edfico que ampl\u00eda a\u00fan m\u00e1s la comprensi\u00f3n de una enfermedad cerebral recientemente identificada, llamada leucodistrofias hipomielinizantes (HLD) (\u201cAmpliando el espectro cl\u00ednico y gen\u00e9tico del trastorno relacionado con NKX6-2,<\/a>\u201dGen\u00e9tica Cl\u00ednica; doi: 10.1111\/cge.13221). Las DAN son un grupo de trastornos del neurodesarrollo que afectan la formaci\u00f3n adecuada de la vaina de mielina en el cerebro y, por lo tanto, se denominan enfermedades de la sustancia blanca. Se caracterizan principalmente por convulsiones, retraso en el desarrollo y discapacidad intelectual.<\/p>\n

Mediante la secuenciaci\u00f3n de nueva generaci\u00f3n, nosotros y nuestros colaboradores internacionales pudimos caracterizar nuevas variantes gen\u00e9ticas en casos de NKX6-2. Los dos factores clave en estas enfermedades raras son los s\u00edntomas cl\u00ednicos en cohortes m\u00e1s amplias y la interacci\u00f3n entre la mutaci\u00f3n individual y la gravedad de la enfermedad. La regresi\u00f3n del desarrollo es claramente una caracter\u00edstica cl\u00ednica previamente subestimada.<\/p>\n

\u201cContinuando con el enfoque del a\u00f1o pasado, el D\u00eda de las Enfermedades Raras 2018 enfatiza claramente que la investigaci\u00f3n es el inicio y la base de toda la rutina m\u00e9dica posterior. Nos alegra que nuestros hallazgos ampl\u00eden la comprensi\u00f3n cl\u00ednica y gen\u00e9tica de la enfermedad e identifiquen un nuevo marcador gen\u00e9tico asociado con esta forma de EHN\u201d, afirm\u00f3 el profesor Peter Bauer, MD, CSO de CENTOGENE. \u201cPublicaciones como estas resaltan la riqueza de los datos gen\u00e9ticos sobre enfermedades raras recopilados en nuestra base de datos CentoMD\u00ae, la base de datos de mutaciones de enfermedades raras m\u00e1s grande del mundo, lo que puede reducir significativamente el tiempo necesario para diagnosticar y, potencialmente, tratar a estos pacientes\u201d.\u201d<\/p>","protected":false},"excerpt":{"rendered":"

Mediante la secuenciaci\u00f3n de nueva generaci\u00f3n, nosotros y nuestros colaboradores internacionales pudimos caracterizar nuevas variantes gen\u00e9ticas en casos de NKX6-2. \u00a1Descubre m\u00e1s sobre los dos factores clave que han influido en la investigaci\u00f3n!<\/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-2420","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"acf":[],"yoast_head":"\nNew findings in hypomyelinating leukodystrophy | 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\/nuevos-hallazgos-en-la-leucodistrofia-hipomielinizante\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"New findings in hypomyelinating leukodystrophy | CENTOGENE\" \/>\n<meta property=\"og:description\" content=\"Using next generation sequencing, we and our international partners were able to characterize new genetic variants in NKX6-2 cases. 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