{"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":"sjd-barcelona-childrens-hospital-referent-en-malalties-minoritaries","status":"publish","type":"post","link":"https:\/\/barcelonainternationalhospitals.com\/ca\/sjd-barcelona-childrens-hospital-benchamark-rare-diseases\/","title":{"rendered":"L'Hospital Sant Joan de D\u00e9u de Barcelona, un referent en el tractament de malalties rares"},"content":{"rendered":"

L'Hospital Sant Joan de D\u00e9u de Barcelona, un referent en el tractament de malalties rares<\/b><\/strong><\/span><\/h1>\n

 <\/p>\n

L'SJD va ser el primer hospital infantil d'Espanya, fa m\u00e9s de 150 anys.<\/b><\/strong><\/span><\/b><\/h3>\n

Des dels nostres inicis, tots i cadascun dels professionals de l'Hospital Sant Joan de D\u00e9u Barcelona (SJD) nom\u00e9s hem tingut dues accions en ment. Curar i cuidar. Dos verbs tan poderosos i significatius que ens han convertit en un dels hospitals m\u00e9s importants d'Europa en les especialitats de medicina pedi\u00e0trica, maternofetal, obst\u00e8trica i ginecol\u00f2gica.<\/p>\n

Tamb\u00e9 som l'hospital d'Espanya on es tracta la majoria de nens i joves i l'hospital de refer\u00e8ncia a la nostra \u00e0rea geogr\u00e0fica immediata. Com a resultat, el nostre hospital rep la visita de dones, nadons i adolescents amb malalties complexes de Catalunya, de la resta del pa\u00eds i d'altres parts del m\u00f3n. Malalties complexes com ara malalties rares.<\/p>\n

L'Hospital Sant Joan de D\u00e9u de Barcelona \u00e9s un dels tres centres membres de la primera Xarxa d'Unitats d'Excel\u00b7l\u00e8ncia Cl\u00ednica (XUEC) per a l'atenci\u00f3 de malalties minorit\u00e0ries creada pel Servei Catal\u00e0 de la Salut. Xarxa que inclou diferents hospitals amb un alt nivell de coneixement diagn\u00f2stic i terap\u00e8utic en l'abordatge de determinats grups de malalties, i que compleixen els criteris d'excel\u00b7l\u00e8ncia establerts pel Servei Catal\u00e0 de la Salut.<\/p>\n

A m\u00e9s, l'Hospital va crear el 2015 Institut Pedi\u00e0tric de Malalties Rares (IPER)<\/a> amb l'objectiu d'avan\u00e7ar en el tractament i la investigaci\u00f3 de malalties rares.<\/p>\n

A m\u00e9s, aquest any 2022 s'ha posat en marxa l'Hospital Sant Joan de D\u00e9u Barcelona La Casa de Sofia<\/a>, el primer centre d'atenci\u00f3 a malalties de minories i cronicitat complexa per a nadons.<\/p>\n

Qu\u00e8 s\u00f3n les malalties rares?<\/b><\/h2>\n

Les malalties rares (MR), tamb\u00e9 conegudes com a malalties minorit\u00e0ries (MMM), s\u00f3n aquelles malalties amb una alta taxa de mortalitat per\u00f2 baixa prevalen\u00e7a, \u00e9s a dir, amb una petita proporci\u00f3 de persones que pateixen aquestes malalties en relaci\u00f3 amb el total de la poblaci\u00f3 estudiada.<\/p>\n

A finals de 1999, es va aprovar a la Comunitat Europea el primer Pla d'Acci\u00f3 Comunit\u00e0ria sobre Malalties Rares, incloent-hi les d'origen gen\u00e8tic. Aquest programa establia que les malalties rares s\u00f3n aquelles que afecten menys de 5 persones per cada 10.000 habitants.<\/p>\n

S'estima que hi ha m\u00e9s de 7.000 malalties rares a Europa, que afecten entre el 6 i el 81% de la poblaci\u00f3.<\/p>\n

El concepte de malalties rares es va encunyar per primera vegada a mitjans dels anys vuitanta als Estats Units (EUA).<\/p>\n

Qu\u00e8 ens fa diferents?<\/b><\/h2>\n

El que realment fa especial l'Hospital Sant Joan de D\u00e9u Barcelona \u00e9s els nostres professionals<\/a>. Tots aquells homes i dones que formen els equips m\u00e8dics i d'infermeria que s'esforcen cada dia per dur a terme i fer realitat aquests dos verbs esmentats al principi. Curar i cuidar.<\/p>\n

Sense ells, no es podria aconseguir res del seg\u00fcent:<\/p>\n

\u00c0mplia experi\u00e8ncia<\/h3>\n

Som un dels centres amb m\u00e9s experi\u00e8ncia a Espanya en la gesti\u00f3 cl\u00ednica de malalties rares. En els darrers anys, hem tractat m\u00e9s de 12.000 pacients amb malalties minorit\u00e0ries. Tenim experi\u00e8ncia en m\u00e9s de 1.200 tipus de malalties rares. Tres quartes parts d'elles afecten menys de 4 nens, sent reconegudes com a ultrarares.<\/p>\n

Innovaci\u00f3 en tecnologia<\/h3>\n

Disposem d'eines de diagn\u00f2stic avan\u00e7ades, incloent-hi una plataforma de diagn\u00f2stic gen\u00f2mic, essencial tenint en compte que 80% d'aquestes malalties tenen una base gen\u00e8tica.<\/p>\n

Recerca<\/h3>\n

Som un centre de refer\u00e8ncia nacional en la recerca de malalties rares gr\u00e0cies a la nostra participaci\u00f3 en el CIBERER de Malalties Rares (CIBERER) i l'Institut de Recerca Pedi\u00e0trica, juntament amb la Universitat de Barcelona (UB) i la Universitat Polit\u00e8cnica de Catalunya (UPC).<\/p>\n

A trav\u00e9s de l'Institut Pedi\u00e0tric de Malalties Rares (IPER), creat el 2015 pel nostre centre hospitalari, hem dissenyat la plataforma 2.0, Comparteix per comparteix<\/a> (anteriorment RareCommons) per tal de connectar investigadors i pacients amb malalties rares d'arreu del m\u00f3n. I, aix\u00ed, treballar junts en el coneixement i la investigaci\u00f3 d'aquestes patologies.<\/p>\n

Aix\u00ed mateix, a IPER<\/a> Duem a terme diferents projectes de recerca cl\u00ednica, centrats en malalties molt espec\u00edfiques i ultrarares, com la s\u00edndrome oculocerebrorenal de Lowe i les distr\u00f2fies retinianes heredit\u00e0ries. A m\u00e9s, som un centre col\u00b7laborador de Orchard Therapeutics<\/a>, una empresa dedicada a la investigaci\u00f3 i desenvolupament de ter\u00e0pies g\u00e8niques per a nens afectats per malalties rares.<\/p>\n

D'altra banda, en l'\u00e0mbit de la recerca b\u00e0sica i translacional, la Institut de Recerca Sant Joan de D\u00e9u (IRSJD)<\/a> t\u00e9 un grup de Neurogen\u00e8tica i Medicina Molecular, orientat a comprendre les bases cel\u00b7lulars, moleculars, fisiopatol\u00f2giques i terap\u00e8utiques dels trastorns neurogen\u00e8tics.<\/p>\n

<\/h3>\n

Divulgaci\u00f3<\/h3>\n

A trav\u00e9s del Comparteix4Rare<\/a> i Guia Metab\u00f2lica<\/a> portals, realitzem una important tasca de difusi\u00f3, informaci\u00f3, formaci\u00f3 i participaci\u00f3 amb els pacients i les seves fam\u00edlies.<\/p>\n

Ensenyament<\/h3>\n

Els nostres professionals participen activament en programes de grau i postgrau ensenyament<\/a> a la Universitat de Barcelona. Entre aquestes activitats cal destacar la doc\u00e8ncia de Pediatria en el Grau de Medicina, en la formaci\u00f3 de MIR de Pediatria i FIR de Bioqu\u00edmica Cl\u00ednica.<\/p>\n

Aix\u00ed mateix, al nostre hospital oferim formaci\u00f3 te\u00f2rica i pr\u00e0ctica per a M\u00e0ster en Gen\u00e8tica Cl\u00ednica i Malalties Minorit\u00e0ries<\/a> de la Universitat de Barcelona.<\/p>\n

La nostra hist\u00f2ria<\/h2>\n

L'Hospital Sant Joan de D\u00e9u va ser fundat el 14 de desembre de 1867 al carrer Muntaner de Barcelona gr\u00e0cies a l'Orde Hospital\u00e0ria de Sant Joan de D\u00e9u, sent aleshores el primer hospital infantil d'Espanya. Tractava principalment nens amb tuberculosi i altres malformacions cong\u00e8nites de l'aparell locomotor.<\/p>\n

El 1881, l'Hospital es va traslladar a uns terrenys situats entre l'actual avinguda Diagonal i el carrer D\u00e9u i Mata. Hi va romandre durant gaireb\u00e9 un segle, fins que el 1973 es va inaugurar l'actual hospital d'Esplugues de Llobregat.<\/p>\n

 <\/p>\n

Si voleu saber m\u00e9s sobre l'Hospital Sant Joan de D\u00e9u de Barcelona i la nostra tasca en el camp de les malalties rares. Contacta amb nosaltres!<\/a><\/strong><\/p>\n

Als Hospitals Internacionals de Barcelona trobareu els hospitals m\u00e9s prestigiosos de la ciutat de Barcelona.<\/p>\n

El comprom\u00eds de Barcelona International Hospitals amb la recerca ens impulsa a compartir articles m\u00e8dics que us ajudaran a entendre la feina dels nostres especialistes m\u00e8dics.<\/p>","protected":false},"excerpt":{"rendered":"

SJD Barcelona Children’s Hospital, a benchmark in the treatment of rare diseases   SJD was the first children’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. […]<\/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":"\nRare 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\" href=\"https:\/\/barcelonainternationalhospitals.com\/ca\/sjd-barcelona-childrens-hospital-referent-en-malalties-minoritaries\/\" \/>\n<meta property=\"og:locale\" content=\"ca_ES\" \/>\n<meta property=\"og:type\" 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