{"id":37480,"date":"2025-02-12T17:26:20","date_gmt":"2025-02-12T16:26:20","guid":{"rendered":"http:\/\/sjd.es\/diagnostico-tratamiento-enfermedades-minoritarias-pediatricas\/"},"modified":"2025-02-17T09:42:31","modified_gmt":"2025-02-17T08:42:31","slug":"diagnostic-tractament-malalties-minoritaries-pediatriques","status":"publish","type":"post","link":"https:\/\/sjd.es\/ca\/diagnostic-tractament-malalties-minoritaries-pediatriques\/","title":{"rendered":"Especialistes en malalties minorit\u00e0ries pedi\u00e0triques es reuneixen a Madrid a la jornada \u00danicas Talks de l&#8217;Hospital Sant Joan de D\u00e9u Barcelona"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\"><strong><mark style=\"background-color:rgba(0, 0, 0, 0)\" class=\"has-inline-color has-primario-color\">La jornada <em>\u00danicas Talks<\/em> ha reunit experts i entitats clau per debatre sobre el diagn\u00f2stic i tractament de les malalties minorit\u00e0ries pedi\u00e0triques, destacant la import\u00e0ncia de la col\u00b7laboraci\u00f3 en xarxa i l\u2019acc\u00e9s equitatiu a noves ter\u00e0pies.<\/mark><\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">L\u2019<a href=\"https:\/\/www.sjdhospitalbarcelona.org\/ca\">Hospital Sant Joan de D\u00e9u Barcelona<\/a> i la <a href=\"https:\/\/fundacionlacaixa.org\/ca\/\">Fundaci\u00f3 \u00abla Caixa\u00bb<\/a> han celebrat la segona edici\u00f3 de la jornada <em>\u00danicas Talks<\/em> a CaixaForum Madrid, un esdeveniment en qu\u00e8 s\u2019han abordat els principals reptes en el diagn\u00f2stic i tractament de les malalties minorit\u00e0ries pedi\u00e0triques. La iniciativa compta amb el suport de la <a href=\"https:\/\/www.enfermedades-raras.org\/\">Federaci\u00f3 Espanyola de Malalties Rares (FEDER)<\/a> i la participaci\u00f3 d\u2019experts en investigaci\u00f3, cl\u00ednica i regulaci\u00f3, aix\u00ed com de representants governamentals i associacions de pacients.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Durant la jornada, s\u2019ha destacat la necessitat d\u2019agilitzar els diagn\u00f2stics, desenvolupar noves ter\u00e0pies i fomentar la col\u00b7laboraci\u00f3 en xarxa per millorar l\u2019atenci\u00f3 als pacients. La directora estrat\u00e8gica del<a href=\"https:\/\/www.sjdhospitalbarcelona.org\/ca\/hospital\/projectes-estrategics\/xarxa-unicas-atencio-malalties-minoritaries\"> projecte \u00danicas SJD,<\/a> Encarna Guill\u00e9n, ha subratllat la import\u00e0ncia de transformar el coneixement i l\u2019assist\u00e8ncia per garantir un acc\u00e9s equitatiu al diagn\u00f2stic i tractament a tot el territori espanyol.<\/p>\n\n\n\n<h5 class=\"wp-block-heading\">Dificultats en el diagn\u00f2stic<\/h5>\n\n\n\n<p class=\"wp-block-paragraph\">En aquesta edici\u00f3 tamb\u00e9 s\u2019han abordat els desafiaments als quals s\u2019enfronten els pacients per obtenir un diagn\u00f2stic, ja que moltes malalties rares s\u00f3n desconegudes fins i tot pels professionals sanitaris. En aquest context, la Xarxa \u00danicas es perfila com una soluci\u00f3 global, facilitant l\u2019intercanvi d\u2019informaci\u00f3 entre hospitals i reduint els temps d\u2019espera.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Un exemple de l\u2019impacte d\u2019aquesta problem\u00e0tica \u00e9s el testimoni de Carmen Sever, mare de la Luc\u00eda, que patia leucodistr\u00f2fia metacrom\u00e0tica. El seu diagn\u00f2stic va trigar un any i mig a arribar, i en aquell moment, fa 20 anys, no existia cap tractament disponible. Avui dia, una ter\u00e0pia g\u00e8nica efica\u00e7 podria salvar vides si la malaltia es detecta a temps mitjan\u00e7ant el cribratge neonatal.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u00danicas Talks ha posat en valor el paper de la tecnologia en la millora del diagn\u00f2stic i tractament d\u2019aquestes patologies, aix\u00ed com la col\u00b7laboraci\u00f3 entre hospitals, centres de recerca i la ind\u00fastria farmac\u00e8utica. Gr\u00e0cies a la Xarxa \u00danicas, impulsada per l\u2019Hospital Sant Joan de D\u00e9u i FEDER, s\u2019est\u00e0 desenvolupant un model assistencial integral que inclou plataformes de dades, investigaci\u00f3 i suport a pacients i cuidadors.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">La pr\u00f2xima edici\u00f3 d&#8217;\u00danicas Talks se celebrar\u00e0 el 2026 a Santiago de Compostel\u00b7la, consolidant aquest f\u00f2rum com un espai de refer\u00e8ncia en la recerca i el tractament de les malalties minorit\u00e0ries pedi\u00e0triques.<\/p>\n\n\n\n<p class=\"has-medium-font-size wp-block-paragraph\"><strong><a href=\"https:\/\/www.sjdhospitalbarcelona.org\/ca\/noticies\/especialistes-malalties-minoritaries-pediatriques-reuneixen-segona-edicio-dunicas-talks\">M\u00e9s informaci\u00f3<\/a><\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n","protected":false},"excerpt":{"rendered":"<p>La jornada \u00danicas Talks ha reunit experts i entitats clau per debatre sobre el diagn\u00f2stic i tractament de les malalties minorit\u00e0ries pedi\u00e0triques, destacant la import\u00e0ncia de la col\u00b7laboraci\u00f3 en xarxa [&hellip;]<\/p>\n","protected":false},"author":10,"featured_media":37475,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"inline_featured_image":false,"_EventAllDay":false,"_EventTimezone":"","_EventStartDate":"","_EventEndDate":"","_EventStartDateUTC":"","_EventEndDateUTC":"","_EventShowMap":false,"_EventShowMapLink":false,"_EventURL":"","_EventCost":"","_EventCostDescription":"","_EventCurrencySymbol":"","_EventCurrencyCode":"","_EventCurrencyPosition":"","_EventDateTimeSeparator":"","_EventTimeRangeSeparator":"","_EventOrganizerID":[],"_EventVenueID":[],"_OrganizerEmail":"","_OrganizerPhone":"","_OrganizerWebsite":"","_VenueAddress":"","_VenueCity":"","_VenueCountry":"","_VenueProvince":"","_VenueState":"","_VenueZip":"","_VenuePhone":"","_VenueURL":"","_VenueStateProvince":"","_VenueLat":"","_VenueLng":"","_VenueShowMap":false,"_VenueShowMapLink":false,"_FSMCFIC_featured_image_caption":"","_FSMCFIC_featured_image_nocaption":"","_FSMCFIC_featured_image_hide":"","footnotes":""},"categories":[512,407,408,398,399],"class_list":["post-37480","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-hospitalari","category-innovacio","category-jornades","category-infancia-ca","category-recerca"],"acf":[],"yoast_head":"<!-- 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