{"id":61730,"date":"2026-03-17T12:16:57","date_gmt":"2026-03-17T11:16:57","guid":{"rendered":"https:\/\/sjd.es\/hospital-sant-joan-de-deu-barcelona-lleva-al-senado-los-retos-de-las-enfermedades-raras\/"},"modified":"2026-07-15T17:11:25","modified_gmt":"2026-07-15T15:11:25","slug":"hospital-sant-joan-de-deu-barcelona-porta-al-senat-els-reptes-de-les-malalties-rares","status":"publish","type":"post","link":"https:\/\/sjd.es\/ca\/hospital-sant-joan-de-deu-barcelona-porta-al-senat-els-reptes-de-les-malalties-rares\/","title":{"rendered":"L&#8217;Hospital Sant Joan de D\u00e9u Barcelona porta al Senat els reptes de les malalties rares"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">L&#8217;<a href=\"https:\/\/www.sjdhospitalbarcelona.org\/ca\/noticies\/sant-joan-deu-porta-senat-problematica-malalties-rares\" target=\"_blank\" rel=\"noreferrer noopener\">Hospital Sant Joan de D\u00e9u Barcelona<\/a>, la <a href=\"https:\/\/www.enfermedades-raras.org\/\" target=\"_blank\" rel=\"noreferrer noopener\">Federaci\u00f3n Espa\u00f1ola de Enfermedades Raras (FEDER)<\/a> i la <a href=\"https:\/\/xn--espaasalud-w9a.org\/\" target=\"_blank\" rel=\"noreferrer noopener\">Fundaci\u00f3n Espa\u00f1a Salud<\/a> han reunit al Senat professionals sanitaris <strong>especialitzats en el diagn\u00f2stic i tractament de les malalties rares<\/strong>, investigadors, experts en pol\u00edtiques p\u00fabliques de salut, entitats de pacients i representants institucionals amb l&#8217;objectiu d&#8217;<strong>analitzar els principals reptes<\/strong> que plantegen aquestes malalties, promoure propostes legislatives i refor\u00e7ar la visibilitat d\u2019aquestes patologies.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Les malalties rares s\u00f3n patologies que tenen una incid\u00e8ncia de&nbsp;<strong>menys de cinc casos per cada 10.000 habitants<\/strong>, per\u00f2 en conjunt afecten m\u00e9s de tres milions de persones a Espanya. El 80% de les malalties minorit\u00e0ries s\u00f3n d\u2019origen gen\u00e8tic i els primers s\u00edmptomes es manifesten a la inf\u00e0ncia.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">La trobada, organitzada per Sant Joan de D\u00e9u, FEDER i la Fundaci\u00f3n Espa\u00f1a Salud, ha abordat les necessitats no cobertes d\u2019aquestes malalties, l\u2019acc\u00e9s preco\u00e7 i equitatiu a diagn\u00f2stics precisos i als tractaments existents, que actualment \u00e9s desigual territorialment, i l\u2019aven\u00e7 en la recerca i el desenvolupament de ter\u00e0pies innovadores.<\/p>\n\n\n\n<div style=\"height:50px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h5 class=\"wp-block-heading has-primario-color has-text-color has-link-color wp-elements-1\">Accions per al diagn\u00f2stic i el tractament<\/h5>\n\n\n\n<p class=\"wp-block-paragraph\">En el transcurs de la jornada s\u2019han presentat les diferents iniciatives que s\u2019han dut a terme des de 2023 en aquest \u00e0mbit, com\u00a0<a href=\"https:\/\/genomica-impact.es\/\" target=\"_blank\" rel=\"noreferrer noopener\">IMPaCT GEN\u00f3MICA<\/a>\u00a0o\u00a0<a href=\"https:\/\/sjd.es\/ca\/primera-pedra-edifici-unicas-sjd-barcelona\/\" target=\"_blank\" rel=\"noreferrer noopener\">\u00danicas<\/a>. Aquesta \u00faltima \u00e9s una estrat\u00e8gia impulsada per l\u2019Hospital Sant Joan de D\u00e9u i FEDER amb la finalitat d\u2019afrontar els desafiaments que plantegen les malalties rares per als pacients, les fam\u00edlies i el sistema de salut.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">De fet, \u00danicas dona nom a diferents projectes que tenen com a objectiu millorar l\u2019atenci\u00f3 dels pacients i avan\u00e7ar en el camp del diagn\u00f2stic i el tractament d\u2019aquestes malalties. Entre aquests destaca el projecte d\u2019implementaci\u00f3 d\u2019una plataforma que connectar\u00e0 diferents hospitals espanyols dins la\u00a0<strong>xarxa \u00danicas<\/strong>. El projecte est\u00e0 liderat des del Ministeri de Sanitat amb finan\u00e7ament dels fons Next Generation en el marc del PERTE de salut d\u2019avantguarda.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">La <strong>xarxa \u00danicas<\/strong> t\u00e9 com a prop\u00f2sit crear un ecosistema d\u2019aliances per oferir una resposta coordinada als pacients amb malalties rares al llarg de tot el seu proc\u00e9s d\u2019atenci\u00f3. Tot plegat amb l\u2019objectiu que siguin les dades i no els pacients les que viatgin, de manera que l\u2019infant amb una malaltia rara pugui ser at\u00e8s al seu hospital sense haver de despla\u00e7ar-se fora de la seva comunitat. La posada en marxa ser\u00e0 al juny d\u2019aquest any i est\u00e0 previst que s\u2019hi vagin incorporant de manera progressiva hospitals, professionals i pacients.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>L&#8217;Hospital Sant Joan de D\u00e9u Barcelona, la Federaci\u00f3n Espa\u00f1ola de Enfermedades Raras (FEDER) i la Fundaci\u00f3n Espa\u00f1a Salud han reunit al Senat professionals sanitaris especialitzats en el diagn\u00f2stic i tractament [&hellip;]<\/p>\n","protected":false},"author":21,"featured_media":60989,"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":"Intervenci\u00f3 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