{"id":5218,"date":"2022-02-28T12:33:46","date_gmt":"2022-02-28T12:33:46","guid":{"rendered":"https:\/\/blog.caixaresearch.org\/?p=5218"},"modified":"2022-03-02T15:15:38","modified_gmt":"2022-03-02T15:15:38","slug":"malalties-minoritaries-per-que-el-95-no-tenen-tractament","status":"publish","type":"post","link":"https:\/\/blog.caixaresearch.org\/ca\/malalties-minoritaries-per-que-el-95-no-tenen-tractament\/","title":{"rendered":"Malalties minorit\u00e0ries: per qu\u00e8 el 95 % no tenen tractament?"},"content":{"rendered":"<p><iframe loading=\"lazy\" title=\"YouTube video player\" src=\"https:\/\/www.youtube.com\/embed\/V8AGsM3T5cw\" width=\"400\" height=\"225\" frameborder=\"0\" allowfullscreen=\"allowfullscreen\"><span data-mce-type=\"bookmark\" style=\"display: inline-block; width: 0px; overflow: hidden; line-height: 0;\" class=\"mce_SELRES_start\">\ufeff<\/span><\/iframe><\/p>\n<p><span style=\"font-weight: 300;\">La s\u00edndrome X-fr\u00e0gil, l\u2019esclerosi lateral amiotr\u00f2fica (ELA) o la prog\u00e8ria de Hutchinson-Gilford s\u00f3n nom\u00e9s un exemple de les m\u00e9s de 6.000 malalties minorit\u00e0ries conegudes. La majoria es diagnostiquen tard, uns 5 anys de mitjana, i el 95\u00a0% no disposen d\u2019un tractament efectiu.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 300;\">Avui, amb motiu del Dia Mundial de les Malalties Minorit\u00e0ries, et convidem a recuperar el m\u00e9s destacat del debat CaixaResearch amb els investigadors Pablo Lapunzina i V\u00edctor Mart\u00ednez Gonz\u00e1lez, del CIBERER i de l\u2019IdiPAZ, l\u00edders de 2 dels 25 projectes als quals dona suport CaixaResearch per afrontar aquestes malalties poc freq\u00fcents.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 300;\">\u00abS\u2019han aconseguit grans aven\u00e7os en els \u00faltims 15 anys gr\u00e0cies a la investigaci\u00f3 i a la innovaci\u00f3, per\u00f2, sobretot, a les associacions de pacients amb les quals treballem colze a colze\u00bb, comentaven. Tanmateix, el cam\u00ed per rec\u00f3rrer encara \u00e9s llarg i per assolir els objectius marcats per l\u2019<\/span><a href=\"https:\/\/irdirc.org\/\" target=\"_blank\" rel=\"noopener\"><span style=\"font-weight: 300;\">IRDiRC<\/span><\/a><span style=\"font-weight: 300;\"> caldr\u00e0 afrontar uns quants reptes:\u00a0<\/span><\/p>\n<ul>\n<li style=\"font-weight: 300;\" aria-level=\"1\"><span style=\"font-weight: 300;\">\u00abNecessitem una capacitaci\u00f3 m\u00e9s gran i m\u00e9s completa del personal sanitari per diagnosticar abans i millor. Aix\u00f2 es podria aconseguir amb la creaci\u00f3 de l\u2019especialitat de Gen\u00e8tica Cl\u00ednica. Espanya \u00e9s l\u2019\u00fanic pa\u00eds de la Uni\u00f3 Europea que no t\u00e9 aquesta especialitat.\u00bb<\/span><\/li>\n<li style=\"font-weight: 300;\" aria-level=\"1\"><span style=\"font-weight: 300;\">\u00abCal estimular encara m\u00e9s les farmac\u00e8utiques perqu\u00e8 hi continu\u00efn aportant la seva capacitat i les seves infraestructures. El desenvolupament de les vacunes per a la COVID-19 ha perm\u00e8s que les farmac\u00e8utiques posin a punt tecnologies, innovaci\u00f3 i mecanismes per fabricar vacunes per a altres virus. Investigar en f\u00e0rmacs i mecanismes contra les malalties rares \u00e9s una inversi\u00f3 de futur per tractar malalties m\u00e9s comunes.\u00bb<\/span><\/li>\n<li style=\"font-weight: 300;\" aria-level=\"1\"><span style=\"font-weight: 300;\">\u00abCal millorar l\u2019organitzaci\u00f3, la gesti\u00f3 i l\u2019enginyeria dels processos tant a escala nacional com internacional.\u00bb<\/span><\/li>\n<li style=\"font-weight: 300;\" aria-level=\"1\"><span style=\"font-weight: 300;\">\u00abI, sens dubte, hi hem d\u2019incorporar, encara m\u00e9s, les associacions de pacients per ajudar-nos m\u00fatuament.\u00bb<\/span><\/li>\n<\/ul>\n<p>Recupera el debat complet\u00a0<a href=\"https:\/\/www.youtube.com\/watch?v=mywipdCUBzY\">aqu\u00ed<\/a>.<\/p>\n<div>\n<p><em>Llegeix la cr\u00f2nica d\u2019altres debats:<\/em><\/p>\n<ul>\n<li><a href=\"https:\/\/blog.caixaresearch.org\/ca\/lexit-dels-tractaments-ja-disponibles-per-a-pacients-amb-covid-19\/\" rel=\"noopener\">L\u2019\u00e8xit dels tractaments ja disponibles per a pacients amb COVID-19<\/a>, amb el Dr. Bonaventura Clotet (IrsiCaixa) i el Dr. Valent\u00ed Fuster (CNIO).\u00a0<em>22\/09\/2020<\/em><\/li>\n<li><a href=\"https:\/\/blog.caixaresearch.org\/ca\/cancer-cap-a-on-sorienten-les-noves-terapies\/\" rel=\"noopener\">C\u00e0ncer. Cap a on s\u2019orienten les noves ter\u00e0pies?<\/a>\u00a0Amb la Dra. Mar\u00eda Blasco (CNIO) i el Dr. Josep Tabernero (VHIO).\u00a0<em>20\/10\/2020<\/em><\/li>\n<li><a href=\"https:\/\/blog.caixaresearch.org\/ca\/els-cervells-que-combaten-la-malaltia-dalzheimer\/\" rel=\"noopener\">Objectiu: prevenir l\u2019alzheimer. Un repte cient\u00edfic i social<\/a>, amb la Dra. Merc\u00e8 Boada (Fundaci\u00f3 ACE) i el Dr. Arcadi Navarro (Fundaci\u00f3 Pasqual Maragall).\u00a0<i>17\/11\/2020<\/i><\/li>\n<li><a href=\"https:\/\/blog.caixaresearch.org\/ca\/vacunes-la-gran-resposta-contra-la-covid-19\/\">Vacunes, la gran resposta contra la COVID-19<\/a>, amb el Dr. Mariano Esteban (CNB-CSIC) i la Dra. Denise Naniche (ISGlobal).\u00a0<em>26\/01\/2021<\/em><\/li>\n<li><a href=\"https:\/\/blog.caixaresearch.org\/ca\/dones-en-ciencia-superant-estereotips-i-desigualtats\/\" target=\"_blank\" rel=\"noopener\">Dones en ci\u00e8ncia, superant estereotips i desigualtats<\/a>, amb la Dra. Blanca Fonts (IdiPAZ), la Dra. Carmen Gil (CIB-CSIC), la Dra. Almudena Ramiro (CNIC), la Dra. Mar\u00eda Soledad Soengas (CNIO) i la Dra. Gemma Triola (ICAQ-CSIC).\u00a0<em>11\/02\/2021<\/em><\/li>\n<li><a href=\"https:\/\/blog.caixaresearch.org\/ca\/leucemia-present-i-futur-dels-nous-tractaments\/\">Leuc\u00e8mia, present i futur dels nous tractaments<\/a>, amb el Dr. Elias Campo (IDIBAPS) i a Dra. Biola Javierre (Institut de Recerca contra la Leuc\u00e8mia Josep Carreras).\u00a0<em>25\/03\/2021<\/em><\/li>\n<li><a href=\"https:\/\/blog.caixaresearch.org\/ca\/nous-reptes-en-vacunacio-i-erradicacio-de-malalties\/\">Nous reptes en vacunaci\u00f3 i erradicaci\u00f3 de malalties<\/a>, amb el Dr. Pedro Alonso (OMS) i la Dra. Regina Rabinovich (ISGlobal).\u00a0<em>22\/04\/2021<\/em><\/li>\n<li><a href=\"https:\/\/blog.caixaresearch.org\/ca\/podrem-curar-lobesitat-una-pandemia-del-segle-xxi\/\">Podrem curar l\u2019obesitat? Una pand\u00e8mia del segle XXI<\/a>, amb el Dr. Miguel L\u00f3pez (CiMUS) i la Dra. Sonia Fern\u00e1ndez Veledo (IISPV).\u00a0<em>27\/05\/2021<\/em><\/li>\n<li><a href=\"https:\/\/blog.caixaresearch.org\/ca\/ela-nous-horitzons-desperanca-gracies-a-la-investigacio\/\">ELA, una malaltia mortal\u2026 per molt de temps?<\/a>, amb la Dra. Carmen M. Fern\u00e1ndez-Martos (HNP) i el Dr. Rub\u00e8n L\u00f3pez Vales (UBNeuro).\u00a0<em>15\/06\/2021<\/em><\/li>\n<li><a href=\"https:\/\/blog.caixaresearch.org\/ca\/cronica-debate-caixaresearch-cor\/\">Com abordem les malalties del cor? Primera causa de mortalitat mundial<\/a>, amb el Dr. Valent\u00ed Fuster (CNIC), la Dra. Judit Cubedo (GlyCardial Diagnostics) i la Dra. Gloria Santos (Fundaci\u00f3 SHE).\u00a0<em>29\/09\/2021<\/em><\/li>\n<li><a href=\"https:\/\/blog.caixaresearch.org\/ca\/nadons-prematurs-extrems-augmentant-la-seva-supervivencia-2\/\">Nadons prematurs extrems: augmentant la seva superviv\u00e8ncia<\/a>, amb el Dr. Eduard Gratac\u00f3s (BCNatal) i la Dra. Adelina Pellicer (H.U. La Paz).\u00a0<em>17\/11\/2021<\/em><\/li>\n<li><a href=\"https:\/\/blog.caixaresearch.org\/ca\/40-anos-de-sida-para-cuando-una-cura-o-una-vacuna-2\/\">40 anys de sida. Quan tindrem una cura o una vacuna?<\/a>, amb el Dr. Juli\u00e0 Blanco (IrsiCaixa) i la Dra. Beatriz Mothe (IrsiCaixa).\u00a0<em>29\/11\/2021<\/em><\/li>\n<li><a href=\"https:\/\/blog.caixaresearch.org\/ca\/cancer-infantil-moltes-malalties-sense-tractaments-especifics-2\/\">C\u00e0ncer infantil: moltes malalties sense tractaments espec\u00edfics<\/a>, amb el Dr. Jaume Mora (PCCB) i la Dra. Ana Pati\u00f1o (Cl\u00ednica Universidad de Navarra). <em>24\/01\/2022<\/em><\/li>\n<\/ul>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p><iframe loading=\"lazy\" title=\"YouTube video player\" src=\"https:\/\/www.youtube.com\/embed\/V8AGsM3T5cw\" width=\"400\" height=\"225\" frameborder=\"0\" allowfullscreen=\"allowfullscreen\">\ufeff<\/iframe><\/p>\n<p>La s\u00edndrome X-fr\u00e0gil, l\u2019esclerosi lateral amiotr\u00f2fica (ELA) o la prog\u00e8ria de Hutchinson-Gilford s\u00f3n nom\u00e9s un exemple de les m\u00e9s de 6.000 malalties minorit\u00e0ries conegudes. La majoria es diagnostiquen tard, uns 5 anys de mitjana, i el 95\u00a0% no disposen d\u2019un tractament efectiu.\u00a0<\/p>\n<p>Avui, amb motiu del Dia Mundial de les Malalties Minorit\u00e0ries, et convidem a recuperar el m\u00e9s destacat del debat CaixaResearch amb els investigadors Pablo Lapunzina i V\u00edctor Mart\u00ednez Gonz\u00e1lez, del CIBERER i de l\u2019IdiPAZ, l\u00edders de 2 dels 25 projectes als quals dona suport CaixaResearch per afrontar aquestes malalties poc freq\u00fcents.\u00a0<\/p>\n<p>\u00abS\u2019han aconseguit grans aven\u00e7os en els \u00faltims 15 anys gr\u00e0cies a la investigaci\u00f3 i a la innovaci\u00f3,<\/p>\n","protected":false},"author":5,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[520],"tags":[],"class_list":["post-5218","post","type-post","status-publish","format-standard","hentry","category-divulgacio-cientifica"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v24.7 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Malalties minorit\u00e0ries: per qu\u00e8 el 95 % no tenen tractament? - Blog CaixaCi\u00e8ncia<\/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:\/\/blog.caixaresearch.org\/ca\/malalties-minoritaries-per-que-el-95-no-tenen-tractament\/\" \/>\n<meta property=\"og:locale\" content=\"ca_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Malalties minorit\u00e0ries: per qu\u00e8 el 95 % no tenen tractament? - Blog CaixaCi\u00e8ncia\" \/>\n<meta property=\"og:description\" content=\"\ufeff La s\u00edndrome X-fr\u00e0gil, l\u2019esclerosi lateral amiotr\u00f2fica (ELA) o la prog\u00e8ria de Hutchinson-Gilford s\u00f3n nom\u00e9s un exemple de les m\u00e9s de 6.000 malalties minorit\u00e0ries conegudes. 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