{"id":2074,"date":"2019-10-01T15:29:34","date_gmt":"2019-10-01T13:29:34","guid":{"rendered":"https:\/\/idibell.cat\/?page_id=2074"},"modified":"2024-05-15T15:16:09","modified_gmt":"2024-05-15T13:16:09","slug":"malalties-neurometaboliques","status":"publish","type":"page","link":"https:\/\/idibell.cat\/recerca\/area-de-neurociencies\/programa-de-neurociencies\/malalties-neurometaboliques\/","title":{"rendered":"Malalties neurometab\u00f2liques"},"content":{"rendered":"\n
La nostra missi\u00f3 \u00e9s millorar la gesti\u00f3 de malalties de trastorns cerebrals rars a trav\u00e9s de la medicina de precisi\u00f3. Aix\u00f2 abasta tot l’espectre, des del diagn\u00f2stic gen\u00f2mic fins als tractaments modificadors de la malaltia. Una primera l\u00ednia de recerca gira al voltant de l’adrenoleucodistr\u00f2fia (ALD), popularitzada per la pel\u00b7l\u00edcula “L’oli de la vida”. Estem integrant enfocaments multi\u00f2mics per obtenir informaci\u00f3 sobre els patomecanismes i per a la identificaci\u00f3 de dianes farmacol\u00f2giques. Aquests impliquen home\u00f2stasi redox i metab\u00f2lica, din\u00e0miques de mitoc\u00f2ndries, prote\u00f2stasi i respostes d’estr\u00e8s cel\u00b7lular. Les proves precl\u00edniques personalitzades han produ\u00eft quatre patents autoritzades, tres assaigs cl\u00ednics de fase II \/ III i dues designacions de medicaments orfes. Una segona l\u00ednia de recerca aplica la gen\u00f2mica cl\u00ednica i funcional per al diagn\u00f2stic gen\u00f2mic i el descobriment de nous gens per als trastorns de la subst\u00e0ncia blanca del cervell. A trav\u00e9s de la seq\u00fcenciaci\u00f3 massiva (WES i WGS), estem identificant nous gens causants de malalties i modelant malalties utilitzant cultius de organoides cerebrals derivats de iPS i peixos zebra. Els resultats estan desenvolupant el coneixement cient\u00edfic mentre serveixen a la comunitat de pacients no diagnosticats.<\/p>\n
Microbioma com a agent modificador de la malaltia en l’adrenoleucodistr\u00f2fia<\/p>\n
\u00das de la gen\u00f2mica per a la medicina de Covid personalitzada, l’estratificaci\u00f3 de pacients i ter\u00e0pies<\/p>\n\t\t\t\t\tPublicacions seleccionades<\/a>\n\t\t\t\t\t\t\t\t\t\t\tExpand<\/i><\/a>\n\t\t\t\t\t Malalties neurometab\u00f2liques Resum La nostra missi\u00f3 \u00e9s millorar la gesti\u00f3 de malalties de trastorns cerebrals rars a trav\u00e9s de la medicina de precisi\u00f3. Aix\u00f2 abasta tot l’espectre, des del diagn\u00f2stic gen\u00f2mic fins als tractaments modificadors de la malaltia. Una primera l\u00ednia de recerca gira al voltant de l’adrenoleucodistr\u00f2fia (ALD), popularitzada per la pel\u00b7l\u00edcula “L’oli de […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":503,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","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":"disabled","ast-breadcrumbs-content":"","ast-featured-img":"disabled","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":""},"class_list":["post-2074","page","type-page","status-publish","hentry"],"publishpress_future_action":{"enabled":false,"date":"2024-09-14 20:57:58","action":"change-status","newStatus":"draft","terms":[],"taxonomy":""},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/pages\/2074"}],"collection":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/comments?post=2074"}],"version-history":[{"count":10,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/pages\/2074\/revisions"}],"predecessor-version":[{"id":25636,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/pages\/2074\/revisions\/25636"}],"up":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/pages\/503"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=2074"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}\n
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\n21FIS012. Optimizaci\u00f3n del diagn\u00f3stico gen\u00e9tico de paraparesias esp\u00e1sticas hereditarias y ataxias hereditarias mediante an\u00e1lisis del genoma long-read, transcriptoma, y gen\u00f3mica funcional. Instituto de Salud Carlos III (ISCIII)<\/strong>. Budget: 205.700\u20ac. 2021-2023. PI: CASASNOVAS PONS, CARLOS.<\/li>\n<\/ul>\n\t\t\t\t\tTransfer\u00e8ncia de tecnologia<\/a>\n\t\t\t\t\t\t\t\t\t\t\tExpand<\/i><\/a>\n\t\t\t\t\tPAT018-PIOGLITAZONE FOR USE IN THE TREATMENT OF ADRENOLEUKODYSTROPHY
\nIP Aurora Pujol
\nUS 201313799636 A\nPAT066_NRF2 ACTIVATORS FOR THE PREVENTION AND\/OR TREATMENT OF AXONAL DEGENERATION
\nIP Aurora Pujol\nPAT087:
\nInventors: Aurora Pujol, Agatha, Stephane, Montserrat, Laura Planas
\nEP23382248,5
\nBiomarkers discriminating the discordant phenotypes of X-adrenoleukodystrophy\nLicense: Pioglitazone for use in the treatment of ALD
\nPI: Dr. Aurora Pujol\n\t\t\t\t\tM\u00e9s informaci\u00f3<\/a>\n\t\t\t\t\t\t\t\t\t\t\tExpand<\/i><\/a>\n\t\t\t\t\t\n
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\n\t\tPujol Onofre, Aurora\n\t<\/h4>\n
\n\t\t\n\t\tapujol@idibell.cat\n\t\t<\/a>\n\t<\/h4>\n
\n\t\tInvestigadors principals\n\t<\/h2>\n\t\t\t\t
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\n\t\tPujol Onofre, Aurora\n\t<\/h4>\n
\n\t\t\n\t\tapujol@idibell.cat\n\t\t<\/a>\n\t<\/h4>\n\t\t\t\t
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\n\t\tFourcade, Stephane\n\t<\/h4>\n
\n\t\t\n\t\tsfourcade@idibell.cat\n\t\t<\/a>\n\t<\/h4>\n\t\t\t\t
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\n\t\tCasasnovas Pons, Carlos\n\t<\/h4>\n
\n\t\t\n\t\tcarloscasasnovas@idibell.cat\n\t\t<\/a>\n\t<\/h4>\n
\n\t\tENLLA\u00c7OS RELACIONATS\n\t<\/h4>\n
\n\t\t\n\t\tLaboratorio de Enfermedades neurometab\u00f3licas\n\t\t<\/a>\n\t<\/h4>\n
\n\t\t\n\t\t@PujolLab\n\t\t<\/a>\n\t<\/h4>\n
\n\t\tEquip\n\t<\/h2>\n\t\t\t\t\t\t\t\t\t\t\t\tCaps de grup\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\tInvestigadors\/es principals\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\tInvestigadors\/es postdoctorals\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\tInvestigadors\/es predoctorals\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\tSuport cient\u00edfic\t\t\t\t<\/a>\n\t\t\t\t\t\tCaps de grup\n\t\t\t\t\t\t\t\t\t\t\t
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\n\t\tNot\u00edcies relacionades\n\t<\/h2>\n\t\t\n\t\t\t\t<\/a>\n\t\t\tUn nou algorisme cl\u00ednic augmenta la taxa de diagn\u00f2stic de les malalties rares<\/a>\n\t\t\tBy comunicacio<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t08\/09\/2023\t\t\t\t\t\t\t\n\t\t\n\t\t\t\t<\/a>\n\t\t\tUn nou estudi identifica el paper essencial d’un enzim lip\u00eddic per a la integritat de les membranes associades als mitocondris<\/a>\n\t\t\tBy comunicacio<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t05\/04\/2023\t\t\t\t\t\t\t\n\t\t\n\t\t\t\t<\/a>\n\t\t\tDescoberts factors epigen\u00e8tics associats a una s\u00edndrome greu de COVID-19 infantil<\/a>\n\t\t\tBy comunicacio<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t28\/06\/2022\t\t\t\t\t\t\t\n\t\t\n\t\t\t\t<\/a>\n\t\t\tIdentifiquen un gen causant d’una nova s\u00edndrome neurol\u00f2gica i \u00f2ssia<\/a>\n\t\t\tBy comunicacio<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t05\/04\/2022\t\t\t\t\t\t\t\n\t\t\n\t\t\t\t<\/a>\n\t\t\tUna nova estrat\u00e8gia de medicina gen\u00f2mica millora el diagn\u00f2stic de les leucodistr\u00f2fies<\/a>\n\t\t\tBy comunicacio<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t11\/01\/2022\t\t\t\t\t\t\t\n\t\t\n\t\t\t\t<\/a>\n\t\t\tQuines raons gen\u00e8tiques hi ha darrere la resist\u00e8ncia al COVID-19?<\/a>\n\t\t\tBy comunicacio<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t05\/01\/2022\t\t\t\t\t\t\t\n\t\t\n\t\t\t\t<\/a>\n\t\t\tTanquem un 2021 ple de ci\u00e8ncia!<\/a>\n\t\t\tBy comunicacio<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t30\/12\/2021\t\t\t\t\t\t\t\n\t\t\n\t\t\t\t<\/a>\n\t\t\tNou assaig cl\u00ednic per a l’adrenoleucodistr\u00f2fia, una malaltia rara del metabolisme cerebral<\/a>\n\t\t\tBy comunicacio<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t09\/12\/2021\t\t\t\t\t\t\t\n\t\t\n\t\t\t\t<\/a>\n\t\t\tIdentifiquen una nova s\u00edndrome mitocondrial caracteritzada per afectaci\u00f3 mutisist\u00e8mica<\/a>\n\t\t\tBy comunicacio<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t08\/11\/2021\t\t\t\t\t\t\t\n\t\t\n\t\t\t\t<\/a>\n\t\t\tCient\u00edfics de l’IDIBELL identifiquen el gen PI4KA com a causant d’una nova malaltia neurol\u00f2gica<\/a>\n\t\t\tBy comunicacio<\/a>\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t | \n\t\t\t\t\t\t\t\t\t26\/08\/2021\t\t\t\t\t\t\t\n\t\t\n\n","protected":false},"excerpt":{"rendered":"