{"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<h1>\n\t\tMalalties neurometab\u00f2liques\n\t<\/h1>\n<h3>\n\t\tResum\n\t<\/h3>\n\t<p>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&#8217;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&#8217;adrenoleucodistr\u00f2fia (ALD), popularitzada per la pel\u00b7l\u00edcula &#8220;L&#8217;oli de la vida&#8221;. 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&#8217;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<h2>300<\/h2>\n<h2>Publicacions<\/h2>\n\t\t\t\t<img loading=\"lazy\" decoding=\"async\" src=\"https:\/\/idibell.cat\/wp-content\/uploads\/2020\/03\/pnns_at_primary_somatosensory_cortex_in_mouse_brain_03.jpg\" alt=\"pnns_at_primary_somatosensory_cortex_in_mouse_brain_03\" itemprop=\"image\" height=\"300\" width=\"600\" title=\"pnns_at_primary_somatosensory_cortex_in_mouse_brain_03\" onerror=\"this.style.display='none'\"  \/>\n\t\t\t\t\t<a href=\"#\" id=\"fl-accordion--label-0\" tabindex=\"0\" aria-controls=\"fl-accordion--panel-0\">L\u00ednies estrat\u00e8giques<\/a>\n\t\t\t\t\t\t\t\t\t\t\t<a href=\"#\" id=\"fl-accordion--icon-0\" tabindex=\"0\" aria-controls=\"fl-accordion--panel-0\"><i>Expand<\/i><\/a>\n\t\t\t\t\tMedicina gen\u00f2mica per a malalties cerebrals de la subst\u00e0ncia blanca. Des del diagn\u00f2stic gen\u00f2mic fins al descobriment de nous gens i s\u00edndromes.<br \/>\nIntegraci\u00f3 multi\u00f3mica per a dianes terap\u00e8utiques i identificaci\u00f3 de biomarcadors. Assaigs precl\u00ednics i cl\u00ednics per a l&#8217;adrenoleucodistr\u00f2fia.\n<p>Microbioma com a agent modificador de la malaltia en l&#8217;adrenoleucodistr\u00f2fia<\/p>\n<p>\u00das de la gen\u00f2mica per a la medicina de Covid personalitzada, l&#8217;estratificaci\u00f3 de pacients i ter\u00e0pies<\/p>\n\t\t\t\t\t<a href=\"#\" id=\"fl-accordion--label-1\" tabindex=\"0\" aria-controls=\"fl-accordion--panel-1\">Publicacions seleccionades<\/a>\n\t\t\t\t\t\t\t\t\t\t\t<a href=\"#\" id=\"fl-accordion--icon-1\" tabindex=\"0\" aria-controls=\"fl-accordion--panel-1\"><i>Expand<\/i><\/a>\n\t\t\t\t\t<ul>\n<li>Al Hakem,H;Doets,AY;Stino,AM;Zivkovic,SA;Andersen,H;Willison,HJ;Cornblath,DR et al, <strong>CSF Findings in Relation to Clinical Characteristics, Subtype, and Disease Course in Patients With Guillain-Barre Syndrome<\/strong>, Neurology, 2023;100(23):2386-2397, doi:10.1212\/WNL.0000000000207282<\/li>\n<li>Schl\u00fcter,A;V\u00e9lez Santamar\u00eda,V;Verdura,E;Rodr\u00edguez Palmero,A;Ruiz,M;Fourcade,S;Planas Serra,L et al, ClinPrior: <strong>an algorithm for diagnosis and novel gene discovery by network-based prioritization<\/strong>, Genome Med., 2023;15(1):doi:10.1186\/s13073-023-01214-2<\/li>\n<li>Weinhofer,I;Rommer,P;Gleiss,A;Ponleitner,M;Zierfuss,B;Waidhofer Soellner,P;Fourcade,S et al, <strong>Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy<\/strong>, EBioMedicine, 2023;96104781-104781, doi:10.1016\/j.ebiom.2023.104781<\/li>\n<li>Schl\u00fcter,A;V\u00e9lez Santamar\u00eda,V;Verdura,E;Rodr\u00edguez Palmero,A;Ruiz,M;Fourcade,S;Planas Serra,L et al, <strong>ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization<\/strong>, Genome Med., 2023;15(1):doi:10.1186\/s13073-023-01214-2,<\/li>\n<li>Ortega Suero,G;Abenza Abild\u00faa,MJ;Serrano Munuera,C;Rouco Axpe,I;Arpa Guti\u00e9rrez,FJ;Adarmes G\u00f3mez,AD;Rodr\u00edguez de Rivera,FJ et al,<strong> Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study<\/strong>., Neurologia, 2023;38(6):379-386, doi:10.1016\/j.nrleng.2023.04.003<\/li>\n<\/ul>\n\t\t\t\t\t<a href=\"#\" id=\"fl-accordion--label-2\" tabindex=\"0\" aria-controls=\"fl-accordion--panel-2\">Projectes seleccionats<\/a>\n\t\t\t\t\t\t\t\t\t\t\t<a href=\"#\" id=\"fl-accordion--icon-2\" tabindex=\"0\" aria-controls=\"fl-accordion--panel-2\"><i>Expand<\/i><\/a>\n\t\t\t\t\t<ul>\n<li>FIS21127. <strong>Medicina multi-\u00f3mica para la comprensi\u00f3n de la adrenomieloneuropat\u00eda: estudio aleatorizado de fase IIb \/ III controlado con placebo para el estudio cl\u00ednico y molecular de la acci\u00f3n del dimetilfumarato<\/strong>. Instituto de Salud Carlos III (ISCIII). Budget: 898.700\u20ac. 2022-2025. PI: PUJOL ONOFRE, AURORA.<\/li>\n<li>USA21002. <strong>Immunologic and Predictive Features of MIS-C. NATIONAL INSTITUTES OF HEALTH NIH<\/strong>. Budget: 167.601,58\u20ac. 2022-2024. PI: PUJOL ONOFRE, AURORA.<\/li>\n<li>CEE21013. <strong>UNDINE: The human genetic and immunological determinants of the clinical manifestations of SARS-CoV-2 infection: Towards personalised medicine<\/strong>. COMISSI\u00d3 EUROPEA. Budget: 77.353,75\u20ac. 2022-2026. PI: PUJOL ONOFRE, AURORA.<\/li>\n<li>FIS23013. <strong>Identificaci\u00f3n de los desencadenantes y mecanismos moleculares de la inflamaci\u00f3n cerebral en adrenoleucodistrofia<\/strong>. Instituto de Salud Carlos III (ISCIII). Budget: 315.000\u20ac. 2024-2026. PI: PUJOL ONOFRE, AURORA.<br \/>\n21FIS012. <strong>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\t<a href=\"#\" id=\"fl-accordion--label-3\" tabindex=\"0\" aria-controls=\"fl-accordion--panel-3\">Transfer\u00e8ncia de tecnologia<\/a>\n\t\t\t\t\t\t\t\t\t\t\t<a href=\"#\" id=\"fl-accordion--icon-3\" tabindex=\"0\" aria-controls=\"fl-accordion--panel-3\"><i>Expand<\/i><\/a>\n\t\t\t\t\tPAT018-PIOGLITAZONE FOR USE IN THE TREATMENT OF ADRENOLEUKODYSTROPHY<br \/>\nIP Aurora Pujol<br \/>\nUS 201313799636 A\nPAT066_NRF2 ACTIVATORS FOR THE PREVENTION AND\/OR TREATMENT OF AXONAL DEGENERATION<br \/>\nIP Aurora Pujol\nPAT087:<br \/>\nInventors: Aurora Pujol, Agatha, Stephane, Montserrat, Laura Planas<br \/>\nEP23382248,5<br \/>\nBiomarkers discriminating the discordant phenotypes of X-adrenoleukodystrophy\nLicense: Pioglitazone for use in the treatment of ALD<br \/>\nPI: Dr. Aurora Pujol\n\t\t\t\t\t<a href=\"#\" id=\"fl-accordion--label-4\" tabindex=\"0\" aria-controls=\"fl-accordion--panel-4\">M\u00e9s informaci\u00f3<\/a>\n\t\t\t\t\t\t\t\t\t\t\t<a href=\"#\" id=\"fl-accordion--icon-4\" tabindex=\"0\" aria-controls=\"fl-accordion--panel-4\"><i>Expand<\/i><\/a>\n\t\t\t\t\t<ul>\n<li>Premi Albus de Grifols Scientific Awards atorgat a Aurora Pujol (octubre de 2019)<\/li>\n<li>Premi de la Societat Cient\u00edfica d&#8217;Errors cong\u00e8nits de l&#8217;metabolisme a Best Talk (SSIEM 3-6 de setembre de 2019)<\/li>\n<\/ul>\n\t\t\t\t<img loading=\"lazy\" decoding=\"async\" src=\"https:\/\/idibell.cat\/wp-content\/uploads\/2019\/10\/pujol-onofre-aurora-150x150.jpg\" alt=\"Pujol Onofre, Aurora\" itemprop=\"image\" height=\"150\" width=\"150\" title=\"pujol-onofre-aurora\" onerror=\"this.style.display='none'\"  \/>\n<h4>\n\t\tPujol Onofre, Aurora\n\t<\/h4>\n<h4>\n\t\t<a href=\"mailto:apujol@idibell.cat\" title=\"apujol@idibell.cat\" target=\"_blank\" rel=\"noopener\">\n\t\tapujol@idibell.cat\n\t\t<\/a>\n\t<\/h4>\n<h2>\n\t\tInvestigadors principals\n\t<\/h2>\n\t\t\t\t<img loading=\"lazy\" decoding=\"async\" src=\"https:\/\/idibell.cat\/wp-content\/uploads\/2019\/10\/pujol-onofre-aurora-150x150.jpg\" alt=\"Pujol Onofre, Aurora\" itemprop=\"image\" height=\"150\" width=\"150\" title=\"pujol-onofre-aurora\" onerror=\"this.style.display='none'\"  \/>\n<h4>\n\t\tPujol Onofre, Aurora\n\t<\/h4>\n<h4>\n\t\t<a href=\"mailto:apujol@idibell.cat\" title=\"apujol@idibell.cat\" target=\"_blank\" rel=\"noopener\">\n\t\tapujol@idibell.cat\n\t\t<\/a>\n\t<\/h4>\n\t\t\t\t<img loading=\"lazy\" decoding=\"async\" src=\"https:\/\/idibell.cat\/wp-content\/uploads\/2022\/11\/Stephane-Fourcade22-150x150.jpg\" alt=\"Stephane-Fourcade22\" itemprop=\"image\" height=\"150\" width=\"150\" title=\"Stephane-Fourcade22\" onerror=\"this.style.display='none'\"  \/>\n<h4>\n\t\tFourcade, Stephane\n\t<\/h4>\n<h4>\n\t\t<a href=\"mailto:sfourcade@idibell.cat\" title=\"sfourcade@idibell.cat\" target=\"_blank\" rel=\"noopener\">\n\t\tsfourcade@idibell.cat\n\t\t<\/a>\n\t<\/h4>\n\t\t\t\t<img loading=\"lazy\" decoding=\"async\" src=\"https:\/\/idibell.cat\/wp-content\/uploads\/2020\/11\/Carlos-Casasnovas-Pons-150x150.jpg\" alt=\"Carlos-Casasnovas-Pons\" itemprop=\"image\" height=\"150\" width=\"150\" title=\"Carlos-Casasnovas-Pons\" onerror=\"this.style.display='none'\"  \/>\n<h4>\n\t\tCasasnovas Pons, Carlos\n\t<\/h4>\n<h4>\n\t\t<a href=\"mailto:carloscasasnovas@idibell.cat\" title=\"carloscasasnovas@idibell.cat\" target=\"_blank\" rel=\"noopener\">\n\t\tcarloscasasnovas@idibell.cat\n\t\t<\/a>\n\t<\/h4>\n<h4>\n\t\tENLLA\u00c7OS RELACIONATS\n\t<\/h4>\n<h4>\n\t\t<a href=\"http:\/\/www.neurometabolic-lab.org\/\" title=\"Laboratorio de Enfermedades neurometab\u00f3licas\" target=\"_blank\" rel=\"noopener\">\n\t\tLaboratorio de Enfermedades neurometab\u00f3licas\n\t\t<\/a>\n\t<\/h4>\n<h4>\n\t\t<a href=\"https:\/\/twitter.com\/PujolLab\" title=\"@PujolLab\" target=\"_blank\" rel=\"noopener\">\n\t\t@PujolLab\n\t\t<\/a>\n\t<\/h4>\n<h2>\n\t\tEquip\n\t<\/h2>\n\t\t\t\t\t\t\t\t<a href=\"#\" id=\"fl-tabs--label-0\" data-index=\"0\" aria-selected=\"true\" aria-controls=\"fl-tabs--panel-0\" aria-expanded=\"true\" role=\"tab\" tabindex=\"0\">\t\t\t\tCaps de grup\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t<a href=\"#\" id=\"fl-tabs--label-1\" data-index=\"1\" aria-selected=\"false\" aria-controls=\"fl-tabs--panel-1\" aria-expanded=\"false\" role=\"tab\" tabindex=\"0\">\t\t\t\tInvestigadors\/es principals\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t<a href=\"#\" id=\"fl-tabs--label-2\" data-index=\"2\" aria-selected=\"false\" aria-controls=\"fl-tabs--panel-2\" aria-expanded=\"false\" role=\"tab\" tabindex=\"0\">\t\t\t\tInvestigadors\/es postdoctorals\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t<a href=\"#\" id=\"fl-tabs--label-3\" data-index=\"3\" aria-selected=\"false\" aria-controls=\"fl-tabs--panel-3\" aria-expanded=\"false\" role=\"tab\" tabindex=\"0\">\t\t\t\tInvestigadors\/es predoctorals\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t<a href=\"#\" id=\"fl-tabs--label-4\" data-index=\"4\" aria-selected=\"false\" aria-controls=\"fl-tabs--panel-4\" aria-expanded=\"false\" role=\"tab\" tabindex=\"0\">\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<ul>\n<li>Pujol Onofre, Aurora<\/li>\n<\/ul>\n\t\t\t\t\t\tInvestigadors\/es principals\n\t\t\t\t\t\t\t\t\t\t\t<ul>\n<li>Fourcade, Stephane<\/li>\n<li>Casasnovas Pons, Carlos<\/li>\n<\/ul>\n\t\t\t\t\t\tInvestigadors\/es postdoctorals\n\t\t\t\t\t\t\t\t\t\t\t<ul>\n<li>Ruiz Sales, Montserrat<\/li>\n<li>Sch\u00fcter Martin, Agatha<\/li>\n<li>Rodriguez Ruiz, Maria del Mar<\/li>\n<li>Planas Serra, Laura<\/li>\n<\/ul>\n\t\t\t\t\t\tInvestigadors\/es predoctorals\n\t\t\t\t\t\t\t\t\t\t\t<ul>\n<li>Torreni, Lorenzo<\/li>\n<li>Artuch, Ayelen<\/li>\n<li>Morales De La Prida, Moises<\/li>\n<\/ul>\n\t\t\t\t\t\tSuport cient\u00edfic\n\t\t\t\t\t\t\t\t\t\t\t<ul>\n<li>Martinez Garcia, Juan Jos\u00e9<\/li>\n<li>Guilera Zapater, Cristina<\/li>\n<li>Mu\u00f1oz Cabello De Alba, Ivan<\/li>\n<li>Noya Mosquera, 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-->\n\n","protected":false},"excerpt":{"rendered":"<p>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. 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