{"id":2074,"date":"2019-10-01T15:29:34","date_gmt":"2019-10-01T13:29:34","guid":{"rendered":"https:\/\/idibell.cat\/?page_id=2074"},"modified":"2024-09-26T08:21:10","modified_gmt":"2024-09-26T06:21:10","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

\n\t\tMalalties neurometab\u00f2liques\n\t<\/h1>\n

\n\t\tResum\n\t<\/h3>\n\t

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

300<\/h2>\n

Publicacions<\/h2>\n\t\t\t\t\"pnns_at_primary_somatosensory_cortex_in_mouse_brain_03\"\n\t\t\t\t\tL\u00ednies estrat\u00e8giques<\/a>\n\t\t\t\t\t\t\t\t\t\t\tExpand<\/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.
\nIntegraci\u00f3 multi\u00f3mica per a dianes terap\u00e8utiques i identificaci\u00f3 de biomarcadors. Assaigs precl\u00ednics i cl\u00ednics per a l’adrenoleucodistr\u00f2fia.\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

Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.<\/a><\/p>\n

Mohren L, Erdlenbruch F, Leit\u00e3o E, Kilpert F, H\u00f6nes GS, Kaya S, Schr\u00f6der C, Thieme A, Sturm M, Park J, Schl\u00fcter A, Ruiz M, Morales de la Prida M, Casasnovas C, Becker K, Roggenbuck U, Pechlivanis S, Kaiser FJ, Synofzik M, Wirth T, Anheim M, Haack TB, Lockhart PJ, J\u00f6ckel KH, Pujol A, Klebe S, Timmann D, Depienne C.Nat Commun. 2024 Sep 3;15(1):7665. doi: 10.1038\/s41467-024-52148-1.PMID:\u00a039227614<\/p>\n

Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy.<\/a><\/p>\n

Launay N, Lopez-Erauskin J, Bianchi P, Guha S, Parameswaran J, Coppa A, Torreni L, Schl\u00fcter A, Fourcade S, Paredes-Fuentes AJ, Artuch R, Casasnovas C, Ruiz M, Pujol A.Brain. 2024 Jun 3;147(6):2069-2084. doi: 10.1093\/brain\/awae038.PMID:\u00a038763511<\/p>\n

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.<\/a><\/p>\n

Schl\u00fcter A, V\u00e9lez-Santamar\u00eda V, Verdura E, Rodr\u00edguez-Palmero A, Ruiz M, Fourcade S, Planas-Serra L, Launay N, Guilera C, Mart\u00ednez JJ, Homedes-Pedret C, Albert\u00ed-Aguil\u00f3 MA, Zulaika M, Mart\u00ed I, Troncoso M, Tom\u00e1s-Vila M, Bullich G, Garc\u00eda-P\u00e9rez MA, Sobrido-G\u00f3mez MJ, L\u00f3pez-Laso E, Fons C, Del Toro M, Macaya A; HSP\/ataxia workgroup; Beltran S, Guti\u00e9rrez-Solana LG, P\u00e9rez-Jurado LA, Aguilera-Albesa S, de Munain AL, Casasnovas C, Pujol A.Genome Med. 2023 Sep 7;15(1):68. doi: 10.1186\/s13073-023-01214-2.PMID:\u00a037679823<\/p>\n

Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy.<\/a><\/p>\n

Weinhofer I, Rommer P, Gleiss A, Ponleitner M, Zierfuss B, Waidhofer-S\u00f6llner P, Fourcade S, Grabmeier-Pfistershammer K, Reinert MC, G\u00f6pfert J, Heine A, Yska HAF, Casasnovas C, Cantar\u00edn V, Bergner CG, Mallack E, Forss-Petter S, Aubourg P, Bley A, Engelen M, Eichler F, Lund TC, Pujol A, K\u00f6hler W, K\u00fchl JS, Berger J.EBioMedicine. 2023 Oct;96:104781. doi: 10.1016\/j.ebiom.2023.104781. Epub 2023 Sep 7.PMID:\u00a037683329<\/p>\n

RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.<\/a><\/p>\n

Launay N, Ruiz M, Planas-Serra L, Verdura E, Rodr\u00edguez-Palmero A, Schl\u00fcter A, Goicoechea L, Guilera C, Casas J, Campelo F, Jouanguy E, Casanova JL, Boespflug-Tanguy O, Vazquez Cancela M, Guti\u00e9rrez-Solana LG, Casasnovas C, Area-Gomez E, Pujol A.J Clin Invest. 2023 Jul 17;133(14):e162836. doi: 10.1172\/JCI162836.PMID:\u00a037463447<\/p>\n

Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.<\/a><\/p>\n

Planas-Serra L, Launay N, Goicoechea L, Heron B, Jou C, Juli\u00e1-Palacios N, Ruiz M, Fourcade S, Casasnovas C, De La Torre C, Gelot A, Marsal M, Loza-Alvarez P, Garc\u00eda-Cazorla \u00c0, Fatemi A, Ferrer I, Portero-Otin M, Area-G\u00f3mez E, Pujol A.J Clin Invest. 2023 May 15;133(10):e162957. doi: 10.1172\/JCI162957.PMID: 36951944<\/p>\n

Loss of seryl-tRNA synthetase (SARS1<\/em>) causes complex spastic paraplegia and cellular senescence.<\/a><\/p>\n

Verdura E, Senger B, Raspall-Chaure M, Schl\u00fcter A, Launay N, Ruiz M, Casasnovas C, Rodriguez-Palmero A, Macaya A, Becker HD, Pujol A.J Med Genet. 2022 Dec;59(12):1227-1233. doi: 10.1136\/jmg-2022-108529. Epub 2022 Aug 30.PMID:\u00a036041817<\/p>\n

Activating cannabinoid receptor 2 preserves axonal health through GSK-3\u03b2\/NRF2 axis in adrenoleukodystrophy.<\/a><\/p>\n

Parameswaran J, Goicoechea L, Planas-Serra L, Pastor A, Ruiz M, Calingasan NY, Guilera C, Aso E, Boada J, Pamplona R, Portero-Ot\u00edn M, de la Torre R, Ferrer I, Casasnovas C, Pujol A, Fourcade S.Acta Neuropathol. 2022 Aug;144(2):241-258. doi: 10.1007\/s00401-022-02451-2. Epub 2022 Jul 1.PMID:\u00a035778568<\/p>\n

Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study.<\/a><\/p>\n

Davalos V, Garc\u00eda-Prieto CA, Ferrer G, Aguilera-Albesa S, Valencia-Ramos J, Rodr\u00edguez-Palmero A, Ruiz M, Planas-Serra L, Jordan I, Alegr\u00eda I, Flores-P\u00e9rez P, Cantar\u00edn V, Fumad\u00f3 V, Viadero MT, Rodrigo C, M\u00e9ndez-Hern\u00e1ndez M, L\u00f3pez-Granados E, Colobran R, Rivi\u00e8re JG, Soler-Palac\u00edn P, Pujol A, Esteller M.EClinicalMedicine. 2022 Jun 25;50:101515. doi: 10.1016\/j.eclinm.2022.101515. eCollection 2022 Aug.PMID:\u00a035770252<\/p>\n

Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.<\/a><\/p>\n

Guasto A, Dubail J, Aguilera-Albesa S, Paganini C, Vanhulle C, Haouari W, Gorr\u00eda-Redondo N, Aznal-Sainz E, Boddaert N, Planas-Serra L, Schl\u00fcter A, V\u00e9lez-Santamar\u00eda V, Verdura E, Bruneel A, Rossi A, Huber C, Pujol A, Cormier-Daire V.Brain. 2022 Oct 21;145(10):3711-3722. doi: 10.1093\/brain\/awac110.PMID:\u00a035325049<\/p>\n

 <\/p>\n\t\t\t\t\tProjectes seleccionats<\/a>\n\t\t\t\t\t\t\t\t\t\t\tExpand<\/i><\/a>\n\t\t\t\t\t