{"id":72,"date":"2021-01-29T11:55:14","date_gmt":"2021-01-29T11:55:14","guid":{"rendered":"https:\/\/ring20researchsupport.co.uk\/?page_id=72"},"modified":"2024-11-26T17:09:04","modified_gmt":"2024-11-26T17:09:04","slug":"research","status":"publish","type":"page","link":"https:\/\/ring20researchsupport.co.uk\/es\/research\/","title":{"rendered":"Investigar"},"content":{"rendered":"
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El s\u00edndrome r(20) se considera una enfermedad rara poco investigada. Hay informaci\u00f3n limitada publicada en la literatura m\u00e9dica, con muchas publicaciones que presentan estudios de casos \u00fanicos y las cohortes m\u00e1s grandes para estudios de investigaci\u00f3n (cl\u00ednicos y\/o gen\u00e9ticos) que comprenden un m\u00e1ximo de 25 pacientes. Por lo tanto, no est\u00e1 claro si realmente comprendemos la gen\u00e9tica (genotipo), la variedad de s\u00edntomas y las comorbilidades asociadas (fenotipo) o el curso t\u00edpico del s\u00edndrome r(20) durante la vida de un individuo.<\/p>

Uno de los objetivos clave de Ring20 Research and Support UK CIO es buscar y promover oportunidades para la investigaci\u00f3n colaborativa, para mejorar el conocimiento y, en \u00faltima instancia, los resultados de salud para las personas que viven con el s\u00edndrome r(20) en todo el mundo.<\/p>

Ring20 ha desarrollado una estrategia de investigaci\u00f3n de 4 pilares que esperamos alg\u00fan d\u00eda nos lleve hacia la medicina de precisi\u00f3n.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t

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Campa\u00f1a del Fondo de Investigaci\u00f3n<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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En 2017, lanzamos nuestra Campa\u00f1a de Fondos de Investigaci\u00f3n para recaudar \u00a378,000 de fondos para investigaci\u00f3n vital.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t

\n\t\t\t\t\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\tPuedes donar aqu\u00ed para apoyar nuestra campa\u00f1a.<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t
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\n\t\t\t\tHasta ahora hemos recaudado \u00a380.000<\/span>\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t
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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tDiagn\u00f3stico\t\t\t\t\t\t<\/a>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\tVisite nuestra p\u00e1gina UNRAVEL para ver el trabajo que estamos haciendo con Illumina para intentar mejorar los diagn\u00f3sticos del s\u00edndrome r(20).\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t

\n\t\t\t\t\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\thaga clic aqu\u00ed<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t
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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tCausas\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\tTodav\u00eda no sabemos por qu\u00e9 el cromosoma en anillo provoca convulsiones y otros s\u00edntomas, \u00a1pero nos encantar\u00eda saberlo!\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t

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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tTerap\u00e9utica\t\t\t\t\t\t<\/a>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\tLea el art\u00edculo que publicamos sobre el uso de Terapias Diet\u00e9ticas Cetog\u00e9nicas en r(20)\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t

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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tpron\u00f3sticos\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\tTenemos fondos para apoyar un estudio de historia natural y biomarcadores sobre el s\u00edndrome r(20) que esperamos comenzar en 2021\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t

\n\t\t\t\t\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\thaga clic aqu\u00ed<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>","protected":false},"excerpt":{"rendered":"

r(20) syndrome is considered an under-researched rare disease. There is limited information published\u00a0 in medical literature, with many publications featuring single case studies and the largest cohorts for research studies (clinical and\/or genetic) comprising a maximum of 25 patients. Thus it is unclear as to whether we truly yet understand the genetics (genotype), range of […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"site-sidebar-layout":"no-sidebar","site-content-layout":"page-builder","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"disabled","ast-breadcrumbs-content":"","ast-featured-img":"disabled","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"class_list":["post-72","page","type-page","status-publish","hentry"],"yoast_head":"\nResearch - Ring20 Research and Support UK CIO<\/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:\/\/ring20researchsupport.co.uk\/es\/research\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Research - Ring20 Research and Support UK CIO\" \/>\n<meta property=\"og:description\" content=\"r(20) syndrome is considered an under-researched rare disease. 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