{"id":2074,"date":"2019-10-01T15:29:34","date_gmt":"2019-10-01T13:29:34","guid":{"rendered":"https:\/\/idibell.cat\/?page_id=2074"},"modified":"2024-04-11T10:13:01","modified_gmt":"2024-04-11T08:13:01","slug":"neurometabolic-diseases","status":"publish","type":"page","link":"https:\/\/idibell.cat\/en\/research\/neuroscience-area\/neuroscience-program\/neurometabolic-diseases\/","title":{"rendered":"Neurometabolic diseases"},"content":{"rendered":"\n
Our mission is to improve disease management of rare brain disorders through precision medicine. This spans the whole spectrum from genomic diagnosis to disease-modifying treatments. A first research line revolves around adrenoleukodystrophy (ALD), made popular by the movie “Lorenzo’s Oil”. We are integrating multiomic approaches to gain insights into pathomechanisms and for drug target identification. These involve redox and metabolic homeostasis, mitochondria dynamics, proteostasis and cellular stress responses. Tailored preclinical tests have yielded four licensed patents, three phase II\/III clinical trials, and two Orphan Drug Designations. A second research line applies clinical and functional genomics for genomic diagnostics and novel gene discovery for brain white matter disorders. Through massive sequencing (WES and WGS), we are identifying novel disease-causing genes and modeling disease using iPS-derived brain organoid cultures and zebrafish. Results are advancing scientific knowledge while serving the undiagnosed patient’s community.<\/p>\n
Microbiome as disease modifying agent in adrenoleukodystrophy<\/p>\n
Use of genomics for personalized medicine of Covid, patient stratification and therapeutic.<\/p>\n\t\t\t\t\tSelected Publications<\/a>\n\t\t\t\t\t\t\t\t\t\t\tExpand<\/i><\/a>\n\t\t\t\t\t Davalos,V;Garc\u00eda Prieto,CA;Ferrer,G;Aguilera Albesa,S;Valencia Ramos,J;Rodr\u00edguez Palmero,A;Ruiz,M et al, Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study<\/strong>., EClinicalMedicine, 2022;50101515-101515, doi:10.1016\/j.eclinm.2022.101515,<\/p>\n Parameswaran,J;Goicoechea,L;Planas Serra,L;Pastor,A;Ruiz,M;Calingasan,NY;Guilera,C et al, Activating cannabinoid receptor 2 preserves axonal health through GSK-3\u00df\/NRF2 axis in adrenoleukodystrophy., Acta Neuropathol<\/strong>., 2022;144(2):241-258, doi:10.1007\/s00401-022-02451-2,<\/p>\n Schl\u00fcter,A;Rodr\u00edguez Palmero,A;Verdura,E;V\u00e9lez Santamar\u00eda,V;Ruiz,M;Fourcade,S;Planas Serra,L et al, Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization<\/strong>., Neurology, 2022;98(9):912-923, doi:10.1212\/WNL.0000000000013278<\/p>\n Ranea Robles,P;Galino,J;Espinosa,L;Schluter,A;Ruiz,M;Calingasan,NY;Villarroya,F et al, Modulation of mitochondrial and inflammatory homeostasis through RIP140 is neuroprotective in an adrenoleukodystrophy mouse model<\/strong>, Neuropathol. Appl. Neurobiol., 2022;48(1):doi:10.1111\/nan.12747<\/p>\n Verdura,E;Senger,B;Raspall Chaure,M;Schluter,A;Launay,N;Ruiz,M;Casasnovas,C et al, Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence<\/strong>, J. Med. Genet., 2022;59(12):1227-1233, doi:10.1136\/jmg-2022-108529<\/p>\n\t\t\t\t\tSelected Projects<\/a>\n\t\t\t\t\t\t\t\t\t\t\tExpand<\/i><\/a>\n\t\t\t\t\t FIS21127. Medicina multi-\u00f3mica para la comprensi\u00f3n de la adrenomieloneuropat\u00eda: estudio aleatorizado de fase IIb \/ III controlado con placebo<\/strong>para el estudio cl\u00ednico y molecular de la acci\u00f3n del dimetilfumarato<\/strong>. Instituto de Salud Carlos III (ISCIII). Budget: 898700. 2022-2025. PI: Pujol Onofre, Aurora.<\/p>\n USA21002. Immunologic and Predictive Features of MIS-C. NATIONAL INSTITUTES OF HEALTH NIH<\/strong>. Budget: 205381,76. 2022-2027. PI: Pujol Onofre, Aurora.<\/p>\n CEE21013. UNDINE: The human genetic and immunological determinants of the clinical manifestations of SARS-CoV-2 infection<\/strong>: Towards personalised medicine. COMISSI\u00d3 EUROPEA. Budget: 77353,75. 2022-2026. PI: Pujol Onofre, Aurora.<\/p>\n 21FIS032. Descrifrando la expresi\u00f3n variable de la adrenoleucodistrofia: hacia la medicina a trav\u00e9s de multi-\u00f3micas y organoides cerebrales<\/strong>. Instituto de Salud Carlos III (ISCIII). Budget: 304315. 2021-2023. PI: Pujol Onofre, Aurora.<\/p>\n FIS22017. Metabolitos derivados del intestino como factor modificador de la severidad de la adrenoleucodistofia ligada al X<\/strong>. Instituto de Salud Carlos III (ISCIII). Budget: 122815. 2023-2025. PI: Fourcade, St\u00e9phane.<\/p>\n\t\t\t\t\tTechnology transfer<\/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 Neurometabolic diseases Summary Our mission is to improve disease management of rare brain disorders through precision medicine. This spans the whole spectrum from genomic diagnosis to disease-modifying treatments. A first research line revolves around adrenoleukodystrophy (ALD), made popular by the movie “Lorenzo’s Oil”. We are integrating multiomic approaches to gain insights into pathomechanisms and for […]<\/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-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-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-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-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-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-gradient":""}},"footnotes":""},"publishpress_future_action":{"enabled":false,"date":"2024-05-12 11:23:35","action":"change-status","newStatus":"draft","terms":[],"taxonomy":""},"_links":{"self":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/pages\/2074"}],"collection":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/comments?post=2074"}],"version-history":[{"count":9,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/pages\/2074\/revisions"}],"predecessor-version":[{"id":23908,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/pages\/2074\/revisions\/23908"}],"up":[{"embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/pages\/503"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/media?parent=2074"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
\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\tMore information<\/a>\n\t\t\t\t\t\t\t\t\t\t\tExpand<\/i><\/a>\n\t\t\t\t\t\n
\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\tPrincipal investigators\n\t<\/h2>\n\t\t\t\t\n
\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\n
\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\n
\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\tRELATED LINKS\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\tTeam\n\t<\/h2>\n\t\t\t\t\t\t\t\t\t\t\t\tGroup Leaders\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\tPrincipal Investigators\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\tPostdoctoral researchers\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\tPredoctoral researchers\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\tScientific support\t\t\t\t<\/a>\n\t\t\t\t\t\tGroup Leaders\n\t\t\t\t\t\t\t\t\t\t\t
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\n\t\tRelated news\n\t<\/h2>\n\t\t\n\t\t\t\t<\/a>\n\t\t\tA new clinical algorithm increases the diagnosis rate of rare diseases<\/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\tNew study identifies an essential role of a lipid enzyme for the integrity of mitochondria-associated membranes<\/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\tDiscovered epigenetic alterations associated with the COVID-19 related severe inflammatory syndrome in childhood<\/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\tResearchers identify a gene that causes a new neurological and bone syndrome<\/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\tA new genomic medicine strategy improves the diagnostic of leukodystrophies<\/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\tWhat are the genetic reasons behind resistance to 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\tWe close a 2021 full of science!<\/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\tNew clinical trial for adrenoleukodystrophy, a rare disease of brain metabolism<\/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\tIdentification of a new mitochondrial syndrome characterized by multisystemic involvement<\/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\tIDIBELL scientists identify the PI4KA gene as the cause of a new neurological disease<\/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":"