El proper 28 de febrer se celebra el Dia Mundial de les Malalties Rares. Amb l\u2019objectiu de fer m\u00e9s visibles aquest tipus de malalties que afecten m\u00e9s de tres milions de persones a tot Espanya i unes 400.000 a Catalunya, l\u2019Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) i la Universitat de Barcelona han organitzat una taula rodona sobre l\u2019estat actual de la recerca de les malalties rares.<\/p>\n
En l\u2019acte han participat Virginia Nunes, investigadora UB\u2010IDIBELL, que ha explicat la recerca sobre la s\u00edndrome de Wolfram; Aurora Pujol, investigadora ICREA de l\u2019IDIBELL, que ha parlat sobre les adrenoleucodistr\u00f2fies; Teresa Casals, investigadora IDIBELL, que ha tractat la fibrosi qu\u00edstica, i Maria Berdasco, investigadora IDIBELL, que ha parlat sobre la recerca en s\u00edndrome de Sotos. La sessi\u00f3 ha comptat amb la col\u00b7laboraci\u00f3 de l\u2019Associaci\u00f3 Catalana de Comunicaci\u00f3 Cient\u00edfica.<\/p>\n
Aquesta iniciativa pret\u00e9n apropar a la societat la recerca que s\u2019est\u00e0 duent a terme en malalties rares a la UB i a l\u2019IDIBELL per poder buscar noves estrat\u00e8gies de tractament i prevenci\u00f3.<\/p>\n
El 80% de les malalties rares s\u00f3n heredit\u00e0ries. En aquests casos \u00e9s clau con\u00e8ixer la gen\u00e8tica de les malalties. Fa dues d\u00e8cades que Virginia Nues estudia la gen\u00e8tica molecular de la s\u00edndrome de Wolfram, una malaltia recessiva, rara, progressiva i neurodegenerativa. Es caracteritza per l\u2019aparici\u00f3 de diferents malalties durant la vida del pacient: diabetis, atr\u00f2fia \u00f2ptica, diabetis ins\u00edpida i sordesa a m\u00e9s d\u2019altres desordres neurol\u00f2gics i nefrol\u00f2gics. Les mutacions en el gen WFS1 s\u00f3n les responsables d\u2019aquesta malaltia.<\/p>\n
Del laboratori a la cl\u00ednica<\/strong><\/p>\n La investigadora de l\u2019IDIBELL Aurora Pujol lidera el grup de recerca en malalties neurometab\u00f2liques. Els seus darrers estudis se centren en l\u2019adrenoleucodistr\u00f2fia lligada al cromosoma X, una malaltia neurodegenerativa rara que afecta un de cada 17.000 homes. La investigadora ha demostrat que l\u2019estr\u00e8s oxidatiu \u00e9s un factor molt important en aquesta malaltia, i va provar en ratolins que un c\u00f2ctel d\u2019antioxidants remetia els s\u00edmptomes en el sistema locomotor. Actualment aquest c\u00f2ctel s\u2019est\u00e0 provant en un assaig cl\u00ednic amb 13 pacients.<\/p>\n La fibrosi qu\u00edstica apareix en una de cada 2.000 a 5.000 persones entre la poblaci\u00f3 cauc\u00e0sica i afecta principalment els pulmons per\u00f2 tamb\u00e9 el fetge, el p\u00e0ncrees i l\u2019intest\u00ed. Actualment no existeix cap tractament curatiu, per\u00f2 s\u2019apliquen ter\u00e0pies per millorar els s\u00edmptomes i millorar la qualitat de vida dels pacients. La investigaci\u00f3 b\u00e0sica ha estat fonamental per con\u00e8ixer tant la fisiopatologia com les mutacions gen\u00e8tiques que condueixen a la malaltia. La investigadora Teresa Casals investiga nous m\u00e8todes de diagn\u00f2stic per con\u00e8ixer els efectes de les mutacions a la recerca de nous biomarcadors que puguin ser \u00fatils com a dianes terap\u00e8utiques per combatre la malaltia.<\/p>\n Abordatge epigen\u00e8tic<\/strong><\/p>\n La s\u00edndrome de Sotos \u00e9s una malaltia rara caracteritzada per un creixement excessiu del cos durant els primers anys de vida amb macrocef\u00e0lia i dificultats motores i d\u2019aprenentatge i est\u00e0 causada per mutacions que inactiven el gen NSD1. Maria Berdasco estudia els canvis que aquesta mutaci\u00f3 causa en l\u2019epigenoma, \u00e9s a dir, en les marques qu\u00edmiques que duen els nostres gens, i tamb\u00e9 les connexions entre la malaltia i una major disposici\u00f3 tumoral dels pacients.<\/p>\n Durant l\u2019acte, la Fundaci\u00f3 Bosch i Gimpera ha presentat un nou programa que neix amb l\u2019objectiu d\u2019obtenir recursos per a la investigaci\u00f3 de les malalties rares en l\u2019\u00e0mbit de la Universitat de Barcelona i dels centres de recerca vinculats.<\/p>\n","protected":false},"excerpt":{"rendered":" El proper 28 de febrer se celebra el Dia Mundial de les Malalties Rares. Amb l\u2019objectiu de fer m\u00e9s visibles aquest tipus de malalties que afecten m\u00e9s de tres milions de persones a tot Espanya i unes 400.000 a Catalunya, l\u2019Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) i la Universitat de Barcelona han organitzat una taula […]<\/p>\n","protected":false},"author":6,"featured_media":20606,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"no-sidebar","site-content-layout":"page-builder","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"default","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[396,380,334,340,464,457],"tags":[],"class_list":["post-8587","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genetica-molecular-humana","category-malalties-neurometaboliques","category-medicina-translacional","category-neurociencies","category-p-de-gens-malaltia-i-terapia","category-p-de-neurociencies"],"publishpress_future_action":{"enabled":false,"date":"2024-12-26 03:43:25","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8587","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/comments?post=8587"}],"version-history":[{"count":2,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8587\/revisions"}],"predecessor-version":[{"id":20607,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8587\/revisions\/20607"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/20606"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=8587"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=8587"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=8587"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}