{"id":4363,"date":"2022-07-20T17:46:01","date_gmt":"2022-07-20T15:46:01","guid":{"rendered":"http:\/\/barcelonainternationalhospitals.com\/?page_id=4363"},"modified":"2026-01-29T08:57:34","modified_gmt":"2026-01-29T08:57:34","slug":"hospital-san-joan-de-deu-barcelona-referente-en-enfermedades-raras","status":"publish","type":"post","link":"https:\/\/barcelonainternationalhospitals.com\/es\/sjd-barcelona-childrens-hospital-benchamark-rare-diseases\/","title":{"rendered":"Hospital Sant Joan de D\u00e9u Barcelona, referente en el tratamiento de enfermedades minoritarias"},"content":{"rendered":"<h1><span style=\"color: #167584;\"><strong><b>Hospital Sant Joan de D\u00e9u Barcelona, referente en el tratamiento de enfermedades minoritarias<\/b><\/strong><\/span><\/h1>\n<p>&nbsp;<\/p>\n<h3><span style=\"color: #167584;\"><strong><b>El SJD fue el primer hospital infantil de Espa\u00f1a, hace m\u00e1s de 150 a\u00f1os.<\/b><\/strong><\/span><b><\/b><\/h3>\n<p>Desde nuestros inicios, todos y cada uno de los profesionales del Hospital Sant Joan de D\u00e9u Barcelona (SJD) hemos tenido dos objetivos en mente: curar y cuidar. Dos verbos tan poderosos y significativos que nos han convertido en uno de los hospitales m\u00e1s importantes de Europa en las especialidades de medicina pedi\u00e1trica, materno-fetal, obst\u00e9trica y ginecol\u00f3gica.<\/p>\n<p>Tambi\u00e9n somos el hospital de Espa\u00f1a donde se atiende a la mayor\u00eda de ni\u00f1os y j\u00f3venes, y el hospital de referencia en nuestra zona geogr\u00e1fica inmediata. Como resultado, nuestro hospital recibe visitas de mujeres, beb\u00e9s y adolescentes con enfermedades complejas de Catalu\u00f1a, el resto del pa\u00eds y otras partes del mundo. Enfermedades complejas como las enfermedades raras.<\/p>\n<p>El Hospital Sant Joan de D\u00e9u de Barcelona es uno de los tres centros miembros de la primera Red de Unidades de Excelencia Cl\u00ednica (XUEC) para la atenci\u00f3n de enfermedades minoritarias, creada por el Servicio Catal\u00e1n de la Salud. Esta red incluye diferentes hospitales con un alto nivel de conocimiento diagn\u00f3stico y terap\u00e9utico en el abordaje de ciertos grupos de enfermedades y que cumplen los criterios de excelencia establecidos por el Servei Catal\u00e0 de la Salut.<\/p>\n<p>Adem\u00e1s, en 2015, el Hospital cre\u00f3 el <a href=\"https:\/\/www.sjdhospitalbarcelona.org\/en\/children\/rare-diseases\">Instituto Pedi\u00e1trico de Enfermedades Raras (IPER)<\/a> con el objetivo de avanzar en el tratamiento y la investigaci\u00f3n de enfermedades raras.<\/p>\n<p>Adem\u00e1s, este a\u00f1o 2022, el Hospital Sant Joan de D\u00e9u Barcelona ha puesto en marcha <a href=\"https:\/\/www.sjdhospitalbarcelona.org\/en\/casa-sofia-first-care-centre-rare-diseases-and-complex-chronicity-children\">La Casa de Sof\u00eda<\/a>, el primer centro de atenci\u00f3n a enfermedades minoritarias y cronicidad compleja de la infancia.<\/p>\n<h2><b>\u00bfQu\u00e9 son las enfermedades raras?<\/b><\/h2>\n<p>Las enfermedades raras (ER), tambi\u00e9n conocidas como enfermedades minoritarias (EMM), son aquellas enfermedades con una alta tasa de mortalidad pero una baja prevalencia, es decir, con una peque\u00f1a proporci\u00f3n de personas que las padecen en relaci\u00f3n con el total de la poblaci\u00f3n en estudio.<\/p>\n<p>A finales de 1999, se aprob\u00f3 en la Comunidad Europea el primer Plan de Acci\u00f3n Comunitario sobre Enfermedades Raras, incluidas las de origen gen\u00e9tico. Este programa estableci\u00f3 que las ER son aquellas que afectan a menos de 5 personas por cada 10.000 habitantes.<\/p>\n<p>Se estima que en Europa existen m\u00e1s de 7.000 enfermedades raras que afectan entre el 6 y el 81% de la poblaci\u00f3n.<\/p>\n<p>El concepto de Enfermedades Raras se acu\u00f1\u00f3 por primera vez a mediados de la d\u00e9cada de 1980 en Estados Unidos (EE.UU.).<\/p>\n<h2><b>\u00bfQu\u00e9 nos hace diferentes?<\/b><\/h2>\n<p>Lo que realmente hace especial al Hospital Sant Joan de D\u00e9u Barcelona son <a href=\"https:\/\/www.sjdhospitalbarcelona.org\/en\/rare-diseases-our-professionals\">nuestros profesionales<\/a>. Todos los hombres y mujeres que conforman los equipos m\u00e9dicos y de enfermer\u00eda se esfuerzan cada d\u00eda por hacer realidad estos dos verbos mencionados al principio: sanar y cuidar.<\/p>\n<p>Sin ellos no se podr\u00eda lograr nada de lo siguiente:<\/p>\n<h3>Amplia experiencia<\/h3>\n<p>Somos uno de los centros con mayor experiencia en Espa\u00f1a en el manejo cl\u00ednico de enfermedades raras. En los \u00faltimos a\u00f1os, hemos tratado a m\u00e1s de 12.000 pacientes con enfermedades minoritarias. Tenemos experiencia en m\u00e1s de 1.200 tipos de enfermedades raras. Tres cuartas partes de ellas afectan a menos de 4 ni\u00f1os, siendo reconocidas como ultrarraras.<\/p>\n<h3>Innovaci\u00f3n en tecnolog\u00eda<\/h3>\n<p>Disponemos de herramientas diagn\u00f3sticas avanzadas, entre ellas una plataforma de diagn\u00f3stico gen\u00f3mico, imprescindible teniendo en cuenta que el 80% de estas enfermedades tienen base gen\u00e9tica.<\/p>\n<h3>Investigaci\u00f3n<\/h3>\n<p>Somos centro de referencia nacional en investigaci\u00f3n de enfermedades raras gracias a nuestra participaci\u00f3n en el CIBERER de Enfermedades Raras (CIBERER) y el Instituto de Investigaci\u00f3n Pedi\u00e1trica, junto con la Universidad de Barcelona (UB) y la Universidad Polit\u00e9cnica de Catalu\u00f1a (UPC).<\/p>\n<p>A trav\u00e9s del Instituto Pedi\u00e1trico de Enfermedades Raras (IPER), creado en 2015 por nuestro centro hospitalario, hemos dise\u00f1ado la plataforma 2.0, <a href=\"https:\/\/www.share4rare.org\/\">Compartir para compartir<\/a> (anteriormente RareCommons) para conectar a investigadores y pacientes con enfermedades raras de todo el mundo. Y, as\u00ed, colaborar en el conocimiento y la investigaci\u00f3n de estas patolog\u00edas.<\/p>\n<p>De igual manera, en <a href=\"https:\/\/www.sjdhospitalbarcelona.org\/en\/rare-diseases-research\">IPER<\/a> Llevamos a cabo diversos proyectos de investigaci\u00f3n cl\u00ednica centrados en enfermedades muy espec\u00edficas y ultrarraras, como el s\u00edndrome oculocerebrorrenal de Lowe y las distrofias retinianas hereditarias. Adem\u00e1s, somos centro colaborador de <a href=\"https:\/\/www.orchard-tx.com\/\">Terap\u00e9utica Orchard<\/a>, empresa dedicada a la investigaci\u00f3n y desarrollo de terapias gen\u00e9ticas para ni\u00f1os afectados por enfermedades raras.<\/p>\n<p>Por otra parte, en el campo de la investigaci\u00f3n b\u00e1sica y traslacional, la <a href=\"https:\/\/www.irsjd.org\/en\">Instituto de Recerca Sant Joan de D\u00e9u (IRSJD)<\/a> cuenta con un grupo de Neurogen\u00e9tica y Medicina Molecular, orientado a comprender las bases celulares, moleculares, fisiopatol\u00f3gicas y terap\u00e9uticas de los trastornos neurogen\u00e9ticos.<\/p>\n<h3><\/h3>\n<h3>Divulgaci\u00f3n<\/h3>\n<p>A trav\u00e9s de la <a href=\"https:\/\/www.share4rare.org\/\">Compartir4Raro<\/a> y <a href=\"https:\/\/metabolicas.sjdhospitalbarcelona.org\/\">Gu\u00eda Metab\u00f3lica<\/a> portales, realizamos una importante labor de difusi\u00f3n, informaci\u00f3n, formaci\u00f3n y participaci\u00f3n con los pacientes y sus familias.<\/p>\n<h3>Ense\u00f1anza<\/h3>\n<p>Nuestros profesionales participan activamente en cursos de pregrado y posgrado. <a href=\"https:\/\/www.sjdhospitalbarcelona.org\/en\/rare-diseases-teaching\">ense\u00f1anza<\/a> En la Universidad de Barcelona. Entre estas actividades cabe destacar la docencia de Pediatr\u00eda en el Grado de Medicina, as\u00ed como la formaci\u00f3n del MIR de Pediatr\u00eda y el FIR de Bioqu\u00edmica Cl\u00ednica.<\/p>\n<p>Asimismo, en nuestro hospital ofrecemos formaci\u00f3n te\u00f3rica y pr\u00e1ctica para la <a href=\"https:\/\/www.ub.edu\/web\/ub\/es\/estudis\/oferta_formativa\/masters_propis\/fitxa\/G\/201911375\/index.html?\">M\u00e1ster en Gen\u00e9tica Cl\u00ednica y Enfermedades Minoritarias<\/a> de la Universidad de Barcelona.<\/p>\n<h2>Nuestra historia<\/h2>\n<p>El Hospital Sant Joan de D\u00e9u se fund\u00f3 el 14 de diciembre de 1867 en la calle Muntaner de Barcelona gracias a la Orden Hospitalaria de San Juan de Dios, siendo entonces el primer hospital infantil de Espa\u00f1a. Trataba principalmente a ni\u00f1os con tuberculosis y otras malformaciones cong\u00e9nitas del aparato locomotor.<\/p>\n<p>En 1881, el Hospital se traslad\u00f3 a unos terrenos situados entre la actual Avenida Diagonal y la calle D\u00e9u i Mata. Permaneci\u00f3 all\u00ed durante casi un siglo, hasta la inauguraci\u00f3n del actual hospital de Esplugues de Llobregat en 1973.<\/p>\n<p>&nbsp;<\/p>\n<p><strong>Si quieres saber m\u00e1s sobre el Hospital Sant Joan de D\u00e9u Barcelona y nuestra labor en el \u00e1mbito de las enfermedades minoritarias. <a href=\"https:\/\/barcelonainternationalhospitals.com\/en\/hospital\/sant-joan-de-deu-barcelona-childrens-hospital\/\">\u00a1Cont\u00e1ctanos!<\/a><\/strong><\/p>\n<p>En Barcelona International Hospitals encontrar\u00e1 los hospitales m\u00e1s prestigiosos de la ciudad de Barcelona.<\/p>\n<p>El compromiso de Hospitales Internacionales de Barcelona con la investigaci\u00f3n nos impulsa a compartir art\u00edculos m\u00e9dicos que le ayudar\u00e1n a entender el trabajo de nuestros especialistas m\u00e9dicos.<\/p>","protected":false},"excerpt":{"rendered":"<p>SJD Barcelona Children&#8217;s Hospital, a benchmark in the treatment of rare diseases &nbsp; SJD was the first children&#8217;s hospital in Spain, more than 150 years ago. Since our beginnings, each and every one of the professionals at the Hospital Sant Joan de D\u00e9u Barcelona (SJD) has had only two actions in mind. Healing and caring. [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":11718,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-4363","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-hospitals-and-clinics"],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v26.8 (Yoast SEO v27.3) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>Rare Diseases at SJD Barcelona Children\u2019s Hospital<\/title>\n<meta name=\"description\" content=\"SJD Barcelona Children\u2019s Hospital is a reference center for rare pediatric diseases, combining clinical expertise, research and advanced genetic diagnosis.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" 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