La UVic-UCC participar\u00e0 en el projecte europeu Repurposing glutamatergic synapse therapies across rare neurodevelopmental disorders (HypoGluTx), una iniciativa de recerca que t\u00e9 com a objectiu desenvolupar tractaments per a diferents trastorns minoritaris del neurodesenvolupament abordant mecanismes biol\u00f2gics compartits.<\/p>\n
La iniciativa ha estat seleccionada en la primera convocat\u00f2ria transnacional conjunta 2025 de l\u2019European Rare Diseases Research Alliance (ERDERA), en un proc\u00e9s altament competitiu amb 161 propostes presentades, de les quals nom\u00e9s se\u2019n van finan\u00e7ar 18. En total ha rebut m\u00e9s d\u2019un mili\u00f3 d\u2019euros.<\/p>\n
Coordinat per l\u2019Institut de Neuroci\u00e8ncies de la Universitat de Barcelona, el consorci reuneix equips acad\u00e8mics i organitzacions de pacients d\u2019arreu d\u2019Europa. A banda de la Universitat de Barcelona, hi participen la UVic-UCC, a trav\u00e9s de l\u2019Institut de Recerca i Innovaci\u00f3 en Ci\u00e8ncies de la Vida i de la Salut a la Catalunya Central (IRIS-CC), la University of Coimbra, la VU University Amsterdam i el National Research Institute for Agriculture, Food and Environment (INRAE). De les associacions europees participants destaquen GRIN Europe, STXBP1 i Phelan-McDermid.<\/p>\n
Integrar dades gen\u00e8tiques per orientar en la selecci\u00f3 de les ter\u00e0pies<\/p>\n
L\u2019equip de l\u2019IRIS-CC, dirigit per Mireia Olivella, investigadora del grup de recerca BI-SQUARED de la UVic-UCC, liderar\u00e0 la contribuci\u00f3 computacional del projecte. La seva tasca consistir\u00e0 a integrar dades gen\u00e8tiques, cl\u00edniques i estructurals per avan\u00e7ar en la comprensi\u00f3 de la relaci\u00f3 entre genotip i fenotip cl\u00ednic d\u2019aquestes malalties rares. Aquest treball ha de permetre estratificar millor els pacients i orientar la selecci\u00f3 de les estrat\u00e8gies terap\u00e8utiques m\u00e9s adequades.<\/p>\n
HypoGluTx se centra en trastorns monog\u00e8nics relacionats amb mutacions en els gens GRIN2B, SHANK3, STXBP1 i CACNG2, que alteren el funcionament de la sinapsi glutamat\u00e8rgica i poden provocar epil\u00e8psia, trastorns de l\u2019espectre autista i discapacitat intel\u00b7lectual.<\/p>\n
Un dels objectius principals del projecte \u00e9s estudiar si f\u00e0rmacs i nutric\u00e8utics ja existents poden reutilitzar-se per restaurar la funci\u00f3 sin\u00e0ptica. Per fer-ho, el consorci combinar\u00e0 diferents plataformes experimentals, com cultius neuronals derivats de pacients, models de ratolins modificats gen\u00e8ticament, biomarcadors moleculars i cribratge farmacol\u00f2gic d\u2019alt rendiment.<\/p>\n","protected":false},"excerpt":{"rendered":"
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