{"id":8299,"date":"2025-02-28T10:36:43","date_gmt":"2025-02-28T09:36:43","guid":{"rendered":"https:\/\/www.iqac.csic.es\/el-compromis-de-liqac-csic-amb-la-recerca-de-malalties-rares\/"},"modified":"2026-06-16T10:47:28","modified_gmt":"2026-06-16T08:47:28","slug":"el-compromis-de-liqac-csic-amb-la-recerca-de-malalties-rares","status":"publish","type":"post","link":"https:\/\/www.iqac.csic.es\/ca\/el-compromis-de-liqac-csic-amb-la-recerca-de-malalties-rares\/","title":{"rendered":"El comprom\u00eds de l’IQAC-CSIC amb la recerca de malalties rares"},"content":{"rendered":"

\n

Es considera que una malaltia \u00e9s rara quan afecta a 5 persones per cada 10.000,<\/strong> un nombre petit de persones en comparaci\u00f3 amb la poblaci\u00f3 general. Actualment, es descriuen m\u00e9s de 7,000 malalties rares, que afecten a 300 milions de persones arreu del m\u00f3n i a 3 milions de persones a Espanya. Des de l’any 2008, el Dia de les Malalties Rares<\/strong> se celebra el darrer dia de febrer. Aquesta data es va escollir perqu\u00e8 el febrer \u00e9s un \u00abmes rar\u00bb, i el darrer dia del mes es va seleccionar per simbolitzar la raritat tant de les malalties com del mes mateix.<\/p>\n

Donada la rareta d’aquestes malalties, la finan\u00e7aci\u00f3 per a la seva recerca \u00e9s limitada. Tanmateix, l’Institut de Qu\u00edmica Avan\u00e7ada de Catalunya<\/strong> \u00e9s plenament conscient de la import\u00e0ncia d’aquesta recerca, desenvolupant ter\u00e0pies, diagn\u00f2stics i mol\u00e8cules per oferir tractaments per a aquestes patologies.<\/p>\n

Els investigadors del grup de Qu\u00edmica Supramolecular treballen amb pacients diagnosticats amb cistinosi, una malaltia nefrol\u00f2gica relacionada amb l’acumulaci\u00f3 intracel\u00b7lular de cistina. \u201cActualment estem portant a terme una prova pilot amb mostres de sang de pacients reals per al projecte BACDA, en col\u00b7laboraci\u00f3 amb l’Hospital Vall d’Hebron de Barcelona, gr\u00e0cies a la finan\u00e7aci\u00f3 competitiva obtinguda de la Convocat\u00f2ria CaixaResearch Validate\u201d, declara Ignacio Alfonso<\/strong>, investigador del grup de Qu\u00edmica Supramolecular. Aquesta malaltia afecta 1 de cada 100,000 nens.<\/p>\n

Una altra \u00e0rea de recerca que s’est\u00e0 duent a terme \u00e9s la ictiosi, una malaltia cr\u00f2nica i incurable de la pell, que provoca sequedat extrema, picor, enrogiment i, en casos greus, desfiguraci\u00f3. \u201cLa pell amb ictiosi no sintetitza correctament les acilceramides, que s\u00f3n components essencials per a la correcta formaci\u00f3 del teixit cutani\u201d, explica la investigadora Olga L\u00f3pez<\/strong>. El seu grup de recerca est\u00e0 treballant actualment en el programa de finan\u00e7ament ERA4Health en el projecte \u201cLIPARCI2\u201d, orientat a un tractament basat en nanostructures que lliuren acilceramides a la pell amb ictiosi. Aquests components s\u00f3n essencials per a la correcta formaci\u00f3 del teixit cutani i estan defectuosos a la pell amb ictiosi.<\/p>\n

El grup de Nanobiotecnologia per a Diagn\u00f2stics es centra en l’estudi de malalties pulmonars, incloent la fibrosi qu\u00edstica i la defici\u00e8ncia d’alfa-1-antitripsina, amb \u00e8mfasi en el diagn\u00f2stic primerenc i el desenvolupament de noves estrat\u00e8gies terap\u00e8utiques. \u201cUn diagn\u00f2stic r\u00e0pid i altament sensible hauria de permetre la implementaci\u00f3 immediata d’un tractament adequat, evitant aix\u00ed possibles complicacions\u201d, explica la investigadora Llu\u00efsa Vilaplana<\/strong>.<\/p>\n

A part de les malalties esmentades, els grups de recerca de l’IQAC-CSIC estudien una \u00e0mplia gamma de malalties rares, incloent-hi els c\u00e0ncers, amb especial atenci\u00f3 al neuroblastoma i al glioblastoma. Aquestes malalties tumorals s’estan estudiant per desenvolupar nanopart\u00edcules que millorin la focalitzaci\u00f3 i l’administraci\u00f3 de medicaments. A m\u00e9s, la recerca continua avan\u00e7ant en malalties neurodegeneratives com la distr\u00f2fia miot\u00f2nica tipus 1, la malaltia de Kennedy i la distr\u00f2fia muscular cong\u00e8nita relacionada amb el col\u00b7lagen VI, aix\u00ed com altres afeccions com la malaltia de Farber, la malaltia de Fabry i la malaltia de Pompe.<\/p>\n

Recentment, el CSIC ha creat una Xarxa de Malalties Rares (RER-CSIC)<\/strong><\/a>, que aplega 120 grups de recerca i t\u00e9 com a objectiu crear col\u00b7laboracions entre els cient\u00edfics del CSIC que estudien algunes d’aquestes patologies. Els investigadors de l’IQAC participen en aquesta xarxa del CSIC per promoure el coneixement i un enfocament multidisciplinari d’aquestes malalties.<\/p>\n","protected":false},"excerpt":{"rendered":"

Es considera que una malaltia \u00e9s rara quan afecta a 5 persones per cada 10.000, un nombre petit de persones en comparaci\u00f3 amb la poblaci\u00f3 general. Actualment, es descriuen m\u00e9s de 7,000 malalties rares, que afecten a 300 milions de persones arreu del m\u00f3n i a 3 milions de persones a Espanya. Des de l’anyContinue reading \u00abEl comprom\u00eds de l’IQAC-CSIC amb la recerca de malalties rares\u00bb<\/span><\/a><\/p>\n","protected":false},"author":3,"featured_media":4516,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[73],"tags":[],"class_list":["post-8299","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news","entry"],"acf":[],"yoast_head":"\nEl comprom\u00eds de l'IQAC-CSIC amb la recerca de malalties rares | IQAC - Institut de Qu\u00edmica Avan\u00e7ada de Catalunya - CSIC<\/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:\/\/www.iqac.csic.es\/el-compromiso-de-iqac-csic-con-la-investigacion-de-enfermedades-raras\/\" \/>\n<meta property=\"og:locale\" content=\"ca_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"El comprom\u00eds de l'IQAC-CSIC amb la recerca de malalties rares | IQAC - Institut de Qu\u00edmica Avan\u00e7ada de Catalunya - CSIC\" \/>\n<meta property=\"og:description\" content=\"Es considera que una malaltia \u00e9s rara quan afecta a 5 persones per cada 10.000, un nombre petit de persones en comparaci\u00f3 amb la poblaci\u00f3 general. 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