{"id":10892,"date":"2025-02-28T04:55:00","date_gmt":"2025-02-28T04:55:00","guid":{"rendered":"https:\/\/sindromecharge.es\/index.php\/2025\/02\/28\/belen-perez-experta-enfermedades-metabolicas\/"},"modified":"2025-02-28T04:55:00","modified_gmt":"2025-02-28T04:55:00","slug":"belen-perez-experta-enfermedades-metabolicas","status":"publish","type":"post","link":"https:\/\/sindromecharge.es\/index.php\/2025\/02\/28\/belen-perez-experta-enfermedades-metabolicas\/","title":{"rendered":"Bel\u00e9n P\u00e9rez, experta en enfermedades metab\u00f3licas: \u00abCerca de 50 patolog\u00edas se detectan por la prueba del tal\u00f3n\u00bb"},"content":{"rendered":"

Leemos en Discapacidad la siguiente noticia que os reproducimos de forma \u00edntegra: <\/p>\n

\n

De las cerca de 6.500 enfermedades raras<\/a> que hay identificadas, alrededor de un 20% son lo que se conoce como enfermedades metab\u00f3licas, un grupo de patolog\u00edas, la mayor\u00eda de origen gen\u00e9tico, que se estima que afectan globalmente a 50 de cada 100.000 nacimientos, con una amplia variedad de manifestaciones cl\u00ednicas y bioqu\u00edmicas. <\/p>\n

Para muchas de ellas, ser diagnosticadas y tratadas de manera temprana es crucial para cambiar el curso de la enfermedad, de ah\u00ed que desde entidades como FEDER se haga hincapi\u00e9 en la necesidad de aumentar los cribados neonatales<\/b>.<\/p>\n

Bel\u00e9n P\u00e9rez Gonz\u00e1lez<\/b>, licenciada en Ciencias Biol\u00f3gicas y vicepresidenta de la Sociedad Espa\u00f1ola de Gen\u00e9tica Humana (AEGH) y Directora Adjunta del CEDEM (Centro de Diagn\u00f3stico de Enfermedades Moleculares), que lleva a\u00f1os investigando para mejorar el diagn\u00f3stico y tratamiento de estas enfermedades, nos habla de la importancia de este diagn\u00f3stico precoz<\/b> y de la necesidad de aumentar los cribados neonatales<\/b> para minimizar las secuelas y las tasas de discapacidad<\/a> provocadas por estas enfermedades. <\/p>\n

Cerca de 50 de estas patolog\u00edas se pueden detectar en los primeros d\u00edas de vida, poner una terapia adecuada y evitar secuelas irreversibles<\/h1>\n

Se tendr\u00edan que poder cribar todas las enfermedades que seamos capaces de detectar y tratar con la tecnolog\u00eda que tenemos<\/h1>\n<\/div>\n

Fuente: Discapacidad https:\/\/www.20minutos.es\/noticia\/5686096\/0\/belen-perez-experta-enfermedades-metabolicas\/<\/p>\n","protected":false},"excerpt":{"rendered":"

En la actualidad hay identificadas alrededor de 2.000 enfermedades metab\u00f3licas. Solo 300 tienen tratamiento.<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[8],"tags":[],"class_list":["post-10892","post","type-post","status-publish","format-standard","hentry","category-noticias"],"yoast_head":"\nBel\u00e9n P\u00e9rez, experta en enfermedades metab\u00f3licas: "Cerca de 50 patolog\u00edas se detectan por la prueba del tal\u00f3n" - Asociaci\u00f3n Espa\u00f1ola S\u00edndrome de Charge<\/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:\/\/sindromecharge.es\/index.php\/2025\/02\/28\/belen-perez-experta-enfermedades-metabolicas\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Bel\u00e9n P\u00e9rez, experta en enfermedades metab\u00f3licas: "Cerca de 50 patolog\u00edas se detectan por la prueba del tal\u00f3n" - Asociaci\u00f3n Espa\u00f1ola S\u00edndrome de Charge\" \/>\n<meta property=\"og:description\" content=\"En la actualidad hay identificadas alrededor de 2.000 enfermedades metab\u00f3licas. Solo 300 tienen tratamiento.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/sindromecharge.es\/index.php\/2025\/02\/28\/belen-perez-experta-enfermedades-metabolicas\/\" \/>\n<meta property=\"og:site_name\" content=\"Asociaci\u00f3n Espa\u00f1ola S\u00edndrome de Charge\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/asociacionsindromecharge\" \/>\n<meta property=\"article:published_time\" content=\"2025-02-28T04:55:00+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/sindromecharge.es\/wp-content\/uploads\/2013\/09\/logodecharge300x98.png\" \/>\n\t<meta property=\"og:image:width\" content=\"300\" \/>\n\t<meta property=\"og:image:height\" content=\"98\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"author\" content=\"Charge\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@sindromecharge\" \/>\n<meta name=\"twitter:site\" content=\"@sindromecharge\" \/>\n<meta name=\"twitter:label1\" content=\"Escrito por\" \/>\n\t<meta name=\"twitter:data1\" content=\"Charge\" \/>\n\t<meta name=\"twitter:label2\" content=\"Tiempo de lectura\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minuto\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/sindromecharge.es\\\/index.php\\\/2025\\\/02\\\/28\\\/belen-perez-experta-enfermedades-metabolicas\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/sindromecharge.es\\\/index.php\\\/2025\\\/02\\\/28\\\/belen-perez-experta-enfermedades-metabolicas\\\/\"},\"author\":{\"name\":\"Charge\",\"@id\":\"https:\\\/\\\/sindromecharge.es\\\/#\\\/schema\\\/person\\\/39a60ebe0a2b4d5a11179701e336b039\"},\"headline\":\"Bel\u00e9n P\u00e9rez, experta en enfermedades metab\u00f3licas: \u00abCerca de 50 patolog\u00edas se detectan por la prueba del tal\u00f3n\u00bb\",\"datePublished\":\"2025-02-28T04:55:00+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/sindromecharge.es\\\/index.php\\\/2025\\\/02\\\/28\\\/belen-perez-experta-enfermedades-metabolicas\\\/\"},\"wordCount\":261,\"articleSection\":[\"noticias\"],\"inLanguage\":\"es\"},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/sindromecharge.es\\\/index.php\\\/2025\\\/02\\\/28\\\/belen-perez-experta-enfermedades-metabolicas\\\/\",\"url\":\"https:\\\/\\\/sindromecharge.es\\\/index.php\\\/2025\\\/02\\\/28\\\/belen-perez-experta-enfermedades-metabolicas\\\/\",\"name\":\"Bel\u00e9n P\u00e9rez, experta en enfermedades metab\u00f3licas: \\\"Cerca de 50 patolog\u00edas se detectan por la prueba del tal\u00f3n\\\" - Asociaci\u00f3n Espa\u00f1ola S\u00edndrome de Charge\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/sindromecharge.es\\\/#website\"},\"datePublished\":\"2025-02-28T04:55:00+00:00\",\"author\":{\"@id\":\"https:\\\/\\\/sindromecharge.es\\\/#\\\/schema\\\/person\\\/39a60ebe0a2b4d5a11179701e336b039\"},\"breadcrumb\":{\"@id\":\"https:\\\/\\\/sindromecharge.es\\\/index.php\\\/2025\\\/02\\\/28\\\/belen-perez-experta-enfermedades-metabolicas\\\/#breadcrumb\"},\"inLanguage\":\"es\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/sindromecharge.es\\\/index.php\\\/2025\\\/02\\\/28\\\/belen-perez-experta-enfermedades-metabolicas\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/sindromecharge.es\\\/index.php\\\/2025\\\/02\\\/28\\\/belen-perez-experta-enfermedades-metabolicas\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Portada\",\"item\":\"https:\\\/\\\/sindromecharge.es\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Bel\u00e9n P\u00e9rez, experta en enfermedades metab\u00f3licas: \u00abCerca de 50 patolog\u00edas se detectan por la prueba del tal\u00f3n\u00bb\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/sindromecharge.es\\\/#website\",\"url\":\"https:\\\/\\\/sindromecharge.es\\\/\",\"name\":\"Asociaci\u00f3n Espa\u00f1ola S\u00edndrome de Charge\",\"description\":\"\",\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/sindromecharge.es\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"es\"},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/sindromecharge.es\\\/#\\\/schema\\\/person\\\/39a60ebe0a2b4d5a11179701e336b039\",\"name\":\"Charge\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"es\",\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/c3b46e32a0fc3b093a0873fb767bf3293de856293065e84ef06b7ec7a8acfb98?s=96&d=identicon&r=x\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/c3b46e32a0fc3b093a0873fb767bf3293de856293065e84ef06b7ec7a8acfb98?s=96&d=identicon&r=x\",\"contentUrl\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/c3b46e32a0fc3b093a0873fb767bf3293de856293065e84ef06b7ec7a8acfb98?s=96&d=identicon&r=x\",\"caption\":\"Charge\"},\"url\":\"https:\\\/\\\/sindromecharge.es\\\/index.php\\\/author\\\/admin\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Bel\u00e9n P\u00e9rez, experta en enfermedades metab\u00f3licas: \"Cerca de 50 patolog\u00edas se detectan por la prueba del tal\u00f3n\" - Asociaci\u00f3n Espa\u00f1ola S\u00edndrome de Charge","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/sindromecharge.es\/index.php\/2025\/02\/28\/belen-perez-experta-enfermedades-metabolicas\/","og_locale":"es_ES","og_type":"article","og_title":"Bel\u00e9n P\u00e9rez, experta en enfermedades metab\u00f3licas: \"Cerca de 50 patolog\u00edas se detectan por la prueba del tal\u00f3n\" - Asociaci\u00f3n Espa\u00f1ola S\u00edndrome de Charge","og_description":"En la actualidad hay identificadas alrededor de 2.000 enfermedades metab\u00f3licas. Solo 300 tienen tratamiento.","og_url":"https:\/\/sindromecharge.es\/index.php\/2025\/02\/28\/belen-perez-experta-enfermedades-metabolicas\/","og_site_name":"Asociaci\u00f3n Espa\u00f1ola S\u00edndrome de Charge","article_publisher":"https:\/\/www.facebook.com\/asociacionsindromecharge","article_published_time":"2025-02-28T04:55:00+00:00","og_image":[{"width":300,"height":98,"url":"https:\/\/sindromecharge.es\/wp-content\/uploads\/2013\/09\/logodecharge300x98.png","type":"image\/png"}],"author":"Charge","twitter_card":"summary_large_image","twitter_creator":"@sindromecharge","twitter_site":"@sindromecharge","twitter_misc":{"Escrito por":"Charge","Tiempo de lectura":"1 minuto"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/sindromecharge.es\/index.php\/2025\/02\/28\/belen-perez-experta-enfermedades-metabolicas\/#article","isPartOf":{"@id":"https:\/\/sindromecharge.es\/index.php\/2025\/02\/28\/belen-perez-experta-enfermedades-metabolicas\/"},"author":{"name":"Charge","@id":"https:\/\/sindromecharge.es\/#\/schema\/person\/39a60ebe0a2b4d5a11179701e336b039"},"headline":"Bel\u00e9n P\u00e9rez, experta en enfermedades metab\u00f3licas: \u00abCerca de 50 patolog\u00edas se detectan por la prueba del tal\u00f3n\u00bb","datePublished":"2025-02-28T04:55:00+00:00","mainEntityOfPage":{"@id":"https:\/\/sindromecharge.es\/index.php\/2025\/02\/28\/belen-perez-experta-enfermedades-metabolicas\/"},"wordCount":261,"articleSection":["noticias"],"inLanguage":"es"},{"@type":"WebPage","@id":"https:\/\/sindromecharge.es\/index.php\/2025\/02\/28\/belen-perez-experta-enfermedades-metabolicas\/","url":"https:\/\/sindromecharge.es\/index.php\/2025\/02\/28\/belen-perez-experta-enfermedades-metabolicas\/","name":"Bel\u00e9n P\u00e9rez, experta en enfermedades metab\u00f3licas: \"Cerca de 50 patolog\u00edas se detectan por la prueba del tal\u00f3n\" - Asociaci\u00f3n Espa\u00f1ola S\u00edndrome de Charge","isPartOf":{"@id":"https:\/\/sindromecharge.es\/#website"},"datePublished":"2025-02-28T04:55:00+00:00","author":{"@id":"https:\/\/sindromecharge.es\/#\/schema\/person\/39a60ebe0a2b4d5a11179701e336b039"},"breadcrumb":{"@id":"https:\/\/sindromecharge.es\/index.php\/2025\/02\/28\/belen-perez-experta-enfermedades-metabolicas\/#breadcrumb"},"inLanguage":"es","potentialAction":[{"@type":"ReadAction","target":["https:\/\/sindromecharge.es\/index.php\/2025\/02\/28\/belen-perez-experta-enfermedades-metabolicas\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/sindromecharge.es\/index.php\/2025\/02\/28\/belen-perez-experta-enfermedades-metabolicas\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Portada","item":"https:\/\/sindromecharge.es\/"},{"@type":"ListItem","position":2,"name":"Bel\u00e9n P\u00e9rez, experta en enfermedades metab\u00f3licas: \u00abCerca de 50 patolog\u00edas se detectan por la prueba del tal\u00f3n\u00bb"}]},{"@type":"WebSite","@id":"https:\/\/sindromecharge.es\/#website","url":"https:\/\/sindromecharge.es\/","name":"Asociaci\u00f3n Espa\u00f1ola S\u00edndrome de Charge","description":"","potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/sindromecharge.es\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"es"},{"@type":"Person","@id":"https:\/\/sindromecharge.es\/#\/schema\/person\/39a60ebe0a2b4d5a11179701e336b039","name":"Charge","image":{"@type":"ImageObject","inLanguage":"es","@id":"https:\/\/secure.gravatar.com\/avatar\/c3b46e32a0fc3b093a0873fb767bf3293de856293065e84ef06b7ec7a8acfb98?s=96&d=identicon&r=x","url":"https:\/\/secure.gravatar.com\/avatar\/c3b46e32a0fc3b093a0873fb767bf3293de856293065e84ef06b7ec7a8acfb98?s=96&d=identicon&r=x","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/c3b46e32a0fc3b093a0873fb767bf3293de856293065e84ef06b7ec7a8acfb98?s=96&d=identicon&r=x","caption":"Charge"},"url":"https:\/\/sindromecharge.es\/index.php\/author\/admin\/"}]}},"_links":{"self":[{"href":"https:\/\/sindromecharge.es\/index.php\/wp-json\/wp\/v2\/posts\/10892","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sindromecharge.es\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sindromecharge.es\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sindromecharge.es\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/sindromecharge.es\/index.php\/wp-json\/wp\/v2\/comments?post=10892"}],"version-history":[{"count":0,"href":"https:\/\/sindromecharge.es\/index.php\/wp-json\/wp\/v2\/posts\/10892\/revisions"}],"wp:attachment":[{"href":"https:\/\/sindromecharge.es\/index.php\/wp-json\/wp\/v2\/media?parent=10892"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sindromecharge.es\/index.php\/wp-json\/wp\/v2\/categories?post=10892"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sindromecharge.es\/index.php\/wp-json\/wp\/v2\/tags?post=10892"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}