La segona confer\u00e8ncia anual europea GRIN2B sobre GRINpaties (defectes gen\u00e8tics dels receptors NMDA), organitzada per l’Associaci\u00f3 Europea GRIN2B, el grup del Dr. Xavier Altafaj i col\u00b7laboradors de la Universitat Pompeu Fabra i de l’Hospital Sant Joan de D\u00e9u, va tenir lloc aquest passat cap de setmana. Aquesta reuni\u00f3 t\u00e9 com a objectiu fomentar les interaccions entre fam\u00edlies, metges i investigadors per treballar junts cap a possibles tractaments per als trastorns GRIN2B i altres malalties associades a aquest gen. Aproximadament 40 fam\u00edlies d’arreu del m\u00f3n (15 nacionalitats diferents) van assistir a l’Auditori de l’Hospital Sant Joan de D\u00e9u a Barcelona.<\/p>\n
El gen GRIN2B \u00e9s responsable de sintetitzar una prote\u00efna que forma part d’un tipus de receptors de glutamat (un neurotransmissor), els anomenats receptors ionotr\u00f2pics del tipus NMDA. Aquests receptors s\u00f3n components principals de les sinapsis, elements neuronals que permeten la comunicaci\u00f3 entre les neurones en el cervell. Els receptors NMDA tenen funcions fonamentals en el desenvolupament sin\u00e0ptic, plasticitat cerebral, superviv\u00e8ncia neuronal, cognici\u00f3, habilitats motores i comunicaci\u00f3 i interacci\u00f3 social. Encara que estudis recents descriuen l’associaci\u00f3 entre noves mutacions gen\u00e8tiques de subunitats NMDA i trastorns psiqui\u00e0trics greus, el coneixement dels seus mecanismes patog\u00e8nics i possibles intervencions terap\u00e8utiques \u00e9s molt limitat.<\/p>\n
Aquest esdeveniment va incloure, per una banda, confer\u00e8ncies d’investigadors i metges, que van proporcionar alguns conceptes cient\u00edfics perqu\u00e8 les fam\u00edlies obtinguessin una millor comprensi\u00f3 del gen GRIN2B i les seves funcions, i tamb\u00e9 els van oferir una visi\u00f3 general dels projectes d’investigaci\u00f3 que s’estan duent a terme actualment. D’altra banda, la reuni\u00f3 tamb\u00e9 va incloure un temps per al di\u00e0leg informal entre els professionals i les fam\u00edlies participants, perqu\u00e8 es coneguessin, compartissin experi\u00e8ncies i problemes i mantinguin actiu un grup de suport, a nivell europeu, capa\u00e7 d’incentivar la investigaci\u00f3 de les GRINpaties.<\/p>\n
Per avan\u00e7ar en la seva recerca sobre mutacions en el gen GRIN2B, el grup del Dr. Altafaj, a m\u00e9s d’haver renovat el seu finan\u00e7ament nacional, ha rebut una beca de doctorat industrial amb l’empresa ZeClinics, que permetr\u00e0 posar en marxa un projecte col\u00b7laboratiu d\u2019estudi de les GRINpaties.<\/p>\n","protected":false},"excerpt":{"rendered":"
La segona confer\u00e8ncia anual europea GRIN2B sobre GRINpaties (defectes gen\u00e8tics dels receptors NMDA), organitzada per l’Associaci\u00f3 Europea GRIN2B, el grup del Dr. Xavier Altafaj i col\u00b7laboradors de la Universitat Pompeu Fabra i de l’Hospital Sant Joan de D\u00e9u, va tenir lloc aquest passat cap de setmana. Aquesta reuni\u00f3 t\u00e9 com a objectiu fomentar les interaccions […]<\/p>\n","protected":false},"author":6,"featured_media":10442,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","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":"","ast-breadcrumbs-content":"","ast-featured-img":"","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":""},"categories":[340,344],"tags":[],"class_list":["post-7420","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neurociencies","category-neurofarmacologia-i-dolor"],"publishpress_future_action":{"enabled":false,"date":"2025-03-01 20:51:06","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/7420","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/comments?post=7420"}],"version-history":[{"count":0,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/7420\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/10442"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=7420"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=7420"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=7420"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}