{"id":7897,"date":"2025-11-22T16:55:22","date_gmt":"2025-11-22T15:55:22","guid":{"rendered":"https:\/\/barcelonainternationalhospitals.com\/?page_id=7897"},"modified":"2026-03-23T13:28:48","modified_gmt":"2026-03-23T13:28:48","slug":"com-els-hackatons-genomics-transformen-el-diagnostic-de-malalties-rares-en-pacients-internacionals","status":"publish","type":"post","link":"https:\/\/barcelonainternationalhospitals.com\/ca\/how-genomic-hackathons-are-transforming-rare-disease-diagnosis-for-international-patients\/","title":{"rendered":"Com els hackathons gen\u00f2mics estan transformant el diagn\u00f2stic de malalties rares per a pacients internacionals"},"content":{"rendered":"<p><span style=\"font-weight: 400;\">A <\/span><b>hackat\u00f3 gen\u00f2mic<\/b><span style=\"font-weight: 400;\"> \u00e9s un nou format de col\u00b7laboraci\u00f3 m\u00e8dica que accelera significativament el diagn\u00f2stic de malalties rares i ajuda les fam\u00edlies a rebre respostes que poden haver estat buscant durant anys. Aquest model innovador reuneix experts en gen\u00e8tica, bioinform\u00e0tica, medicina cl\u00ednica i intel\u00b7lig\u00e8ncia artificial, creant un entorn on els casos m\u00e9s complexos es poden analitzar de manera r\u00e0pida i precisa.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">En els darrers anys, Barcelona s&#039;ha convertit en un dels centres clau a Europa on aquestes iniciatives es desenvolupen activament. La ciutat \u00e9s coneguda per la seva innovaci\u00f3 m\u00e8dica, el seu fort ecosistema de recerca i els seus hospitals capa\u00e7os de gestionar casos cl\u00ednics altament complexos.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Una fita particularment important va ser la primera hackat\u00f3 gen\u00f2mica a Espanya. <\/span><b>Hackat\u00f3 \u00danic<\/b><span style=\"font-weight: 400;\">, organitzat per <\/span><b>SJD Hospital Infantil de Barcelona<\/b><span style=\"font-weight: 400;\"> amb la participaci\u00f3 d&#039;experts m\u00e8dics destacats. L&#039;esdeveniment va demostrar com un enfocament multidisciplinari pot canviar el proc\u00e9s diagn\u00f2stic d&#039;un pacient i conduir a respostes llargament esperades.<\/span><\/p>\n<h2><b>Per qu\u00e8 Barcelona \u00e9s l\u00edder mundial en diagn\u00f2stic de malalties rares<\/b><\/h2>\n<p><span style=\"font-weight: 400;\">Barcelona no \u00e9s nom\u00e9s una important destinaci\u00f3 m\u00e8dica europea. \u00c9s una de les poques ciutats on els hospitals reconeguts internacionalment es concentren en una \u00e0rea geogr\u00e0fica petita. Aquests centres formen la <\/span><b>Hospitals Internacionals de Barcelona (BIH)<\/b><span style=\"font-weight: 400;\"> xarxa i oferir als pacients internacionals un ampli espectre de diagn\u00f2stics avan\u00e7ats i tractaments d&#039;alta complexitat.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Les institucions clau de la xarxa inclouen:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/barcelonainternationalhospitals.com\/en\/hospital\/sant-joan-de-deu-barcelona-childrens-hospital\/\"><b>SJD Hospital Infantil de Barcelona<\/b><\/a><span style=\"font-weight: 400;\"> \u2014 un dels hospitals pedi\u00e0trics l\u00edders a Europa i un l\u00edder reconegut en gen\u00e8tica i malalties rares; organitzador del primer hackat\u00f3 gen\u00f2mic d&#039;Espanya.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/barcelonainternationalhospitals.com\/en\/hospital\/barnaclinic-grupo-hospital-clinic\/\"><b>barnacl\u00ednic+<\/b><\/a> <span style=\"font-weight: 400;\">\u2014 una refer\u00e8ncia mundial en cirurgia rob\u00f2tica, trasplantament d&#039;\u00f2rgans, neurocirurgia i oncologia.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/barcelonainternationalhospitals.com\/en\/hospital\/medical-center-teknon\/\"><b>Centro M\u00e9dico Teknon<\/b><\/a><span style=\"font-weight: 400;\"> \u2014 una cl\u00ednica acreditada internacionalment amb programes de cardiologia, oncologia i cirurgia excel\u00b7lents.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/barcelonainternationalhospitals.com\/en\/hospital\/institut-guttmann-neurorehabilitation-hospital\/\"><b>Institut Guttmann<\/b><\/a><span style=\"font-weight: 400;\"> \u2014 un dels centres l\u00edders a Europa en neuroci\u00e8ncia i neurorehabilitaci\u00f3.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/barcelonainternationalhospitals.com\/en\/hospital\/fundacio-puigvert\/\"><b>Fundaci\u00f3 Puigvert<\/b><\/a><span style=\"font-weight: 400;\"> \u2014 un prestigi\u00f3s centre europeu en urologia i nefrologia.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/barcelonainternationalhospitals.com\/en\/hospital\/hospital-quironsalud-barcelona\/\"><b>Quir\u00f3nsalud Barcelona<\/b><\/a><span style=\"font-weight: 400;\"> \u2014 un hospital multidisciplinari d&#039;alt nivell que ofereix \u00e0mplies capacitats diagn\u00f2stiques i quir\u00fargiques.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/barcelonainternationalhospitals.com\/en\/hospital\/university-hospital-dexeus\/\"><b>Hospital Universitari Dexeus<\/b><\/a><span style=\"font-weight: 400;\"> \u2014 una instituci\u00f3 l\u00edder en ginecologia, obstetr\u00edcia, traumatologia i medicina esportiva.<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Aquests hospitals s\u00f3n coneguts per la seva excel\u00b7l\u00e8ncia cl\u00ednica, la recerca cient\u00edfica, l&#039;aplicaci\u00f3 de la intel\u00b7lig\u00e8ncia artificial, la cirurgia rob\u00f2tica i el diagn\u00f2stic gen\u00f2mic avan\u00e7at.<\/span><\/p>\n<h2><b>Qu\u00e8 \u00e9s un Hackat\u00f3 Gen\u00f2mic i per qu\u00e8 \u00e9s important<\/b><\/h2>\n<p><span style=\"font-weight: 400;\">Un hackat\u00f3 gen\u00f2mic \u00e9s un esdeveniment intensiu on especialistes de m\u00faltiples disciplines treballen junts per analitzar dades de pacients amb malalties rares o complexes.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Durant un hackat\u00f3, els experts:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">examinar seq\u00fc\u00e8ncies gen\u00f2miques<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">analitzar mutacions i dades cl\u00edniques<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">aplicar algoritmes d&#039;intel\u00b7lig\u00e8ncia artificial<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">compartir hip\u00f2tesis i opinions d&#039;experts<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">construir models de possibles or\u00edgens de malalties<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">L&#039;objectiu principal \u00e9s <\/span><b>escur\u00e7ar el cam\u00ed des dels s\u00edmptomes fins al diagn\u00f2stic<\/b><span style=\"font-weight: 400;\"> utilitzant el treball en equip i les tecnologies m\u00e9s innovadores.<\/span><\/p>\n<h2><b>\u00danicas \u2014 El primer hackat\u00f3 gen\u00f2mic celebrat mai a Espanya<\/b><\/h2>\n<p><span style=\"font-weight: 400;\">El 2025, <\/span><b>SJD Hospital Infantil de Barcelona<\/b><span style=\"font-weight: 400;\"> va organitzar el primer hackat\u00f3 gen\u00f2mic d&#039;Espanya a la ciutat de M\u00farcia, centrat en nens amb malalties rares, complexes o no diagnosticades. La iniciativa va tenir lloc en el marc de <\/span><b>Hackat\u00f3 \u00danic<\/b><span style=\"font-weight: 400;\">, amb el suport de <\/span><b>CU Virgen de la Arrixaca\u2013IMIB Murcia<\/b><span style=\"font-weight: 400;\"> i el <\/span><b>Fundaci\u00f3 Wilhelm<\/b><span style=\"font-weight: 400;\">, amb l&#039;objectiu de millorar el diagn\u00f2stic de malalties rares en nens reunint els millors recursos cl\u00ednics i de recerca del pa\u00eds.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">La hackat\u00f3 va reunir metges, genetistes, bioinform\u00e0tics, especialistes en malalties rares, biotecn\u00f2legs, neur\u00f2legs i investigadors de tot Espanya. Un total de <\/span><b>12 casos cl\u00ednics d&#039;alta complexitat<\/b><span style=\"font-weight: 400;\"> es van analitzar, molts dels quals havien rom\u00e0s sense un diagn\u00f2stic clar durant anys.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Segons els informes oficials publicats per SJD, la hackat\u00f3 es va desenvolupar en un format de treball intensiu: els equips van analitzar hist\u00f2ries cl\u00edniques, resultats de proves gen\u00e8tiques, dades familiars i seq\u00fc\u00e8ncies gen\u00f2miques complexes que anteriorment no havien donat lloc a conclusions concloents. Per primera vegada, experts de diferents disciplines van treballar en el mateix espai, cosa que va permetre una comprensi\u00f3 m\u00e9s \u00e0mplia i integrada de cada cas.<\/span><\/p>\n<h3><b>Els principals resultats del hackat\u00f3 van incloure:<\/b><\/h3>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">confirmaci\u00f3 o refinament de diagn\u00f2stics en casos on els diagn\u00f2stics tradicionals havien fallat<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">identificaci\u00f3 de noves hip\u00f2tesis relacionades amb mutacions gen\u00e8tiques rares<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">definici\u00f3 dels propers passos, incloent-hi la seq\u00fcenciaci\u00f3 avan\u00e7ada o estudis de laboratori addicionals<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">estrat\u00e8gies terap\u00e8utiques personalitzades basades en dades recentment analitzades<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">La hackat\u00f3 tamb\u00e9 va enfortir la col\u00b7laboraci\u00f3 entre hospitals regionals, va millorar la comunicaci\u00f3 entre especialistes i va destacar la import\u00e0ncia de l&#039;experi\u00e8ncia col\u00b7lectiva en casos en qu\u00e8 una malaltia nom\u00e9s pot apar\u00e8ixer una vegada en desenes o centenars de milers de nens.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">La iniciativa \u00daNICAS va demostrar com la col\u00b7laboraci\u00f3 d&#039;experts, les tecnologies gen\u00f2miques, l&#039;an\u00e0lisi basada en IA i les xarxes cl\u00edniques poden transformar els resultats per a pacients que han viscut durant anys sense un diagn\u00f2stic clar.<\/span><\/p>\n<h2><b>Beneficis dels hackatons gen\u00f2mics per al diagn\u00f2stic<\/b><\/h2>\n<h3><b>1. Expertesa multidisciplin\u00e0ria<\/b><\/h3>\n<p><span style=\"font-weight: 400;\">Genetistes, neur\u00f2legs, bioinform\u00e0tics, cl\u00ednics i especialistes en IA avaluen cada cas conjuntament.<\/span><\/p>\n<h3><b>2. Intel\u00b7lig\u00e8ncia artificial per a l&#039;an\u00e0lisi de dades<\/b><\/h3>\n<p><span style=\"font-weight: 400;\">Les eines d&#039;IA detecten patrons ocults, comparen mutacions amb bases de dades globals i ajuden a descobrir variants rares.<\/span><\/p>\n<h3><b>3. Via de diagn\u00f2stic m\u00e9s r\u00e0pida<\/b><\/h3>\n<p><span style=\"font-weight: 400;\">Els processos que normalment triguen mesos es redueixen a nom\u00e9s uns dies.<\/span><\/p>\n<h3><b>4. Comprensi\u00f3 profunda de casos cl\u00ednics \u00fanics<\/b><\/h3>\n<p><span style=\"font-weight: 400;\">Els hackathons creen les condicions ideals per abordar trastorns ultrarares.<\/span><\/p>\n<h3><b>5. Valor \u00fanic per a pacients internacionals<\/b><\/h3>\n<p><span style=\"font-weight: 400;\">Les fam\u00edlies de l&#039;estranger tenen acc\u00e9s a equips d&#039;experts capa\u00e7os d&#039;analitzar els casos m\u00e9s dif\u00edcils.<\/span><\/p>\n<h2><b>Com els hackathons gen\u00f2mics donen suport als pacients internacionals<\/b><\/h2>\n<p><span style=\"font-weight: 400;\">Per a les fam\u00edlies internacionals que busquen un diagn\u00f2stic o tractament a l&#039;estranger, la incertesa diagn\u00f2stica \u00e9s un dels majors reptes. Molts pacients se sotmeten a m\u00faltiples ex\u00e0mens als seus pa\u00efsos d&#039;origen sense rebre respostes clares. En aquestes situacions, <\/span><b>hackatons gen\u00f2mics<\/b><span style=\"font-weight: 400;\"> ofereixen una oportunitat \u00fanica per combinar tecnologia i coneixements especialitzats.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Els hackathons s\u00f3n especialment \u00fatils quan:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">una malaltia es presenta de manera at\u00edpica o primerenca a la vida<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">els s\u00edmptomes no s\u00f3n clars o no s&#039;ajusten a patrons coneguts<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">les proves tradicionals no aconsegueixen identificar la causa<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Se sospiten mutacions gen\u00e8tiques rares<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">diversos especialistes han d&#039;avaluar el cas simult\u00e0niament<\/span>&nbsp;<\/li>\n<\/ul>\n<h3><b>Per qu\u00e8 aix\u00f2 \u00e9s especialment valu\u00f3s per a pacients internacionals<\/b><\/h3>\n<p><span style=\"font-weight: 400;\">Per a les fam\u00edlies que viatgen a Barcelona, participar en un programa d&#039;an\u00e0lisi gen\u00f2mica o sotmetre el seu cas a la revisi\u00f3 d&#039;equips multidisciplinaris ofereix acc\u00e9s a recursos que rarament estan disponibles en altres llocs:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">diagn\u00f2stic accelerat gr\u00e0cies a l&#039;avaluaci\u00f3 conjunta de desenes d&#039;experts<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">risc redu\u00eft d&#039;errors de diagn\u00f2stic<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">visi\u00f3 completa de la condici\u00f3 des de perspectives gen\u00e8tiques, neurol\u00f2giques i bioinform\u00e0tiques<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">possibilitat d&#039;obtenir una segona opini\u00f3 r\u00e0pida i fiable<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">planificaci\u00f3 de tractament personalitzada basada en dades gen\u00f2miques<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">acc\u00e9s a tecnologies gen\u00f2miques d&#039;alta precisi\u00f3 utilitzades en els principals hospitals europeus<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Barcelona tamb\u00e9 \u00e9s un dels pocs centres m\u00e8dics globals on es realitzen regularment revisions multidisciplin\u00e0ries de casos sobre malalties rares, cosa que la converteix en una destinaci\u00f3 ideal per a pacients que busquen innovaci\u00f3 i precisi\u00f3 diagn\u00f2stica.<\/span><\/p>\n<h2><b>Preguntes freq\u00fcents: Preguntes freq\u00fcents dels pacients que consideren un diagn\u00f2stic a Barcelona<\/b><\/h2>\n<h3><b>Qu\u00e8 aporta la participaci\u00f3 en un hackat\u00f3 gen\u00f2mic?<\/b><\/h3>\n<p><span style=\"font-weight: 400;\">Accelera l&#039;an\u00e0lisi de dades gen\u00e8tiques i permet als experts de diferents camps arribar a un diagn\u00f2stic m\u00e9s prec\u00eds i coordinat.<\/span><\/p>\n<h3><b>Puc fer-me proves gen\u00e8tiques a Barcelona sense participar en un hackat\u00f3?<\/b><\/h3>\n<p><span style=\"font-weight: 400;\">S\u00ed. Les cl\u00edniques de BIH ofereixen programes complets de proves gen\u00e8tiques, que inclouen la seq\u00fcenciaci\u00f3 del genoma complet i el diagn\u00f2stic molecular.<\/span><\/p>\n<h3><b>Quins s\u00edmptomes indiquen que pot ser necessari fer-se una prova gen\u00e8tica?<\/b><\/h3>\n<p><span style=\"font-weight: 400;\">Retard en el desenvolupament, s\u00edmptomes neurol\u00f2gics recurrents, sospita de malalties heredit\u00e0ries, diagn\u00f2stics poc clars o antecedents familiars complexos.<\/span><\/p>\n<h3><b>Quant de temps dura el diagn\u00f2stic gen\u00e8tic a Barcelona?<\/b><\/h3>\n<p><span style=\"font-weight: 400;\">Segons la complexitat del cas, des de diverses setmanes fins a 2 o 3 mesos. Hi ha disponibles protocols accelerats.<\/span><\/p>\n<h3><b>Com puc triar l&#039;hospital adequat a Barcelona per al diagn\u00f2stic de malalties rares?<\/b><\/h3>\n<p><span style=\"font-weight: 400;\">Busqueu centres especialitzats en atenci\u00f3 multidisciplin\u00e0ria i gen\u00e8tica, com SJD Barcelona Children&#039;s Hospital, barnacl\u00ednic+, Centro M\u00e9dico Teknon, Quir\u00f3nsalud Barcelona i altres membres de BIH. <\/span><b>Podeu sol\u00b7licitar una consulta a trav\u00e9s de <\/b><a href=\"https:\/\/barcelonainternationalhospitals.com\/en\/contact\/\"><b>formulari de contacte<\/b><\/a><b> al lloc web de BIH<\/b><span style=\"font-weight: 400;\">.<\/span><\/p>\n<p>Als Hospitals Internacionals de Barcelona trobareu els hospitals m\u00e9s prestigiosos de la ciutat de Barcelona.<\/p>\n<p>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":"<p>A genomic hackathon is a new format of medical collaboration that significantly accelerates the diagnosis of rare diseases and helps families receive answers they may have been seeking for years. This innovative model brings together experts in genetics, bioinformatics, clinical medicine and artificial intelligence, creating an environment where the most complex cases can be analyzed [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":11755,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[15],"tags":[],"class_list":["post-7897","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-innovation-and-research"],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v26.8 (Yoast SEO v27.4) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>How Genomic Hackathons Improve Rare Disease Diagnosis - BIH<\/title>\n<meta name=\"description\" content=\"Discover how genomic hackathons in Barcelona help accelerate rare disease diagnosis through multidisciplinary expertise, AI analysis and advanced genomics.\" 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