{"id":863,"date":"2025-01-08T23:25:22","date_gmt":"2025-01-08T23:25:22","guid":{"rendered":"https:\/\/impact-t2d.es\/?page_id=863"},"modified":"2025-02-03T15:59:40","modified_gmt":"2025-02-03T15:59:40","slug":"recerca","status":"publish","type":"page","link":"https:\/\/impact-t2d.es\/ca\/recerca\/","title":{"rendered":"Recerca"},"content":{"rendered":"\n

Diabetis tipus 2<\/strong><\/h2>\n\n\n\n

La diabetis tipus 2 (DT2), que afecta el 90% dels pacients amb diabetis, i la diabetis tipus 1 (DT1), que representa un 5%, s\u00f3n malalties multifactorials amb susceptibilitat polig\u00e8nica. En casos rars (~1%), s’identifiquen mutacions monog\u00e8niques dominants o recessives, principalment en pacients joves. Els estudis d’associaci\u00f3 del genoma complet (GWAS) han vinculat la DT2 amb variants comunes, sovint localitzades en regions reguladores de les c\u00e8l\u00b7lules beta pancre\u00e0tiques, i han identificat variants rares en gens com RFX6, que s’associen a fenotips espec\u00edfics. L’an\u00e0lisi de variants gen\u00e8tiques rares i ultrarares en la DT2 \u00e9s un desafiament clau. Tot i que cohorts internacionals han analitzat genomes complets, persisteixen limitacions significatives en la identificaci\u00f3 de variants no codificants i en l’estratificaci\u00f3 per fenotips. En la DT2, els factors gen\u00e8tics i ambientals, com ara l’obesitat, interactuen de manera complexa. Els \u00edndexs de risc polig\u00e8nic (PRS) han demostrat capacitat per predir el risc, per\u00f2 la seva utilitat cl\u00ednica encara \u00e9s limitada, ja que requereix optimitzaci\u00f3 per a diferents poblacions i contextos.<\/p>\n\n\n\n

La implementaci\u00f3 de la medicina gen\u00f2mica en la DT2 t\u00e9 un potencial significatiu per millorar l’estratificaci\u00f3 de pacients, personalitzar tractaments i optimitzar decisions cl\u00edniques. Exemples en diabetis monog\u00e8nica, com les mutacions en els gens GCK<\/strong>, HNF1A<\/strong> i HNF4A<\/strong>, han demostrat que \u00e9s possible dissenyar tractaments espec\u00edfics segons l’etiologia gen\u00e8tica. No obstant aix\u00f2, en la DT2, l’arquitectura polig\u00e8nica i la considerable influ\u00e8ncia ambiental dificulten l’aplicaci\u00f3 directa de la informaci\u00f3 gen\u00e8tica a la pr\u00e0ctica cl\u00ednica. Investigacions recents han utilitzat els PRS per identificar pacients amb un risc m\u00e9s alt de DT2, per\u00f2 amb limitacions en la seva capacitat per predir respostes terap\u00e8utiques. Estrat\u00e8gies com la partici\u00f3 funcional dels PRS han avan\u00e7at en la identificaci\u00f3 de pacients segons variants en regions reguladores espec\u00edfiques dels illots pancre\u00e0tics.<\/p>\n\n\n\n

El descobriment de variants gen\u00e8tiques rares i ultrarares \u00e9s essencial per avan\u00e7ar en la comprensi\u00f3 de la DT2, fet que requereix analitzar genomes complets i aplicar models avan\u00e7ats per prioritzar variants delet\u00e8ries. Fenotips extrems, com la DT2 d’inici preco\u00e7 i sense obesitat, presenten una c\u00e0rrega gen\u00e8tica m\u00e9s gran, fet que els converteix en un grup ideal per maximitzar el descobriment de mutacions rares. La creaci\u00f3 d’una cohort centrada en aquests fenotips proporcionaria una oportunitat \u00fanica per explorar l’heterogene\u00eftat gen\u00e8tica i funcional de la DT2.<\/p>\n\n\n\n

\"\"<\/figure>\n\n\n\n

La farmacogen\u00f2mica tamb\u00e9 t\u00e9 un gran potencial per predir reaccions adverses als medicaments utilitzats en la DT2. Per exemple, la intoler\u00e0ncia a la metformina, que afecta el 10% dels pacients, s’associa a variants gen\u00e8tiques espec\u00edfiques, com les del gen SLC22A1<\/strong>, a m\u00e9s de tenir una base polig\u00e8nica. Tot i que hi ha evid\u00e8ncies d’aquestes associacions, encara no s’han desenvolupat guies cl\u00edniques clares per a la seva implementaci\u00f3, representant un \u00e0mbit de gran inter\u00e8s per a la medicina personalitzada.<\/p>\n\n\n\n

Es planteja com a hip\u00f2tesi que els aven\u00e7os recents en gen\u00f2mica i gen\u00e8tica permeten abordar de manera efectiva l’heterogene\u00eftat etiol\u00f2gica de la DT2. Combinant dades gen\u00f2miques i no gen\u00f2miques, \u00e9s possible definir subgrups de pacients que donin suport a decisions cl\u00edniques personalitzades. L’objectiu general del projecte \u00e9s desenvolupar eines gen\u00f2miques per caracteritzar l’heterogene\u00eftat etiol\u00f2gica de la DT2 i personalitzar-ne la gesti\u00f3 cl\u00ednica, en l\u00ednia amb els principis de la medicina personalitzada de precisi\u00f3.<\/p>\n\n\n\n

Objectius<\/strong><\/h2>\n\n\n\n

Els objectius espec\u00edfics inclouen: la creaci\u00f3 d’una cohort de descobriment (ImpactT2D) amb 1.000 pacients seleccionats per fenotips extrems, obtenint genomes complets; el desenvolupament de models que integrin variants gen\u00f2miques rares i PRS estratificats; la implementaci\u00f3 d’estrat\u00e8gies d’intel\u00b7lig\u00e8ncia artificial per definir subgrups de pacients combinant dades gen\u00f2miques i cl\u00edniques; la validaci\u00f3 de models en una segona cohort mitjan\u00e7ant genotipat dirigit; el disseny d’un assaig terap\u00e8utic per avaluar difer\u00e8ncies basades en PRS extrems; l’exploraci\u00f3 de marcadors gen\u00f2mics per predir la toxicitat dels medicaments; la implementaci\u00f3 d’un algoritme assistencial recolzat en una app que integri dades gen\u00f2miques i cl\u00edniques; i el disseny de processos per informar els pacients sobre la seva informaci\u00f3 gen\u00f2mica.<\/p>\n","protected":false},"excerpt":{"rendered":"

Diabetis tipus 2 La diabetis tipus 2 (DT2), que afecta el 90% dels pacients amb diabetis, i la diabetis tipus 1 (DT1), que representa un 5%, s\u00f3n malalties multifactorials amb susceptibilitat polig\u00e8nica. En casos rars (~1%), s’identifiquen mutacions monog\u00e8niques dominants o recessives, principalment en pacients joves. Els estudis d’associaci\u00f3 del genoma complet (GWAS) han vinculat […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"class_list":["post-863","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"\nRecerca - Impact T2D<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/impact-t2d.es\/es\/research\/\" \/>\n<meta property=\"og:locale\" content=\"ca_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Recerca - Impact T2D\" \/>\n<meta property=\"og:description\" content=\"Diabetis tipus 2 La diabetis tipus 2 (DT2), que afecta el 90% dels pacients amb diabetis, i la diabetis tipus 1 (DT1), que representa un 5%, s\u00f3n malalties multifactorials amb susceptibilitat polig\u00e8nica. 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