{"id":2642,"date":"2019-10-07T13:13:13","date_gmt":"2019-10-07T11:13:13","guid":{"rendered":"https:\/\/idibell.cat\/?page_id=2642"},"modified":"2024-06-06T17:25:03","modified_gmt":"2024-06-06T15:25:03","slug":"genetica-molecular-humana","status":"publish","type":"page","link":"https:\/\/idibell.cat\/recerca\/area-de-medicina-translacional\/programa-de-gens-malaltia-i-terapia\/genetica-molecular-humana\/","title":{"rendered":"Gen\u00e8tica molecular humana"},"content":{"rendered":"\n
El grup de gen\u00e8tica molecular humana t\u00e9 com a objectiu principal comprendre millor les bases gen\u00e8tiques i moleculars de les malalties monog\u00e8niques o complexes heredit\u00e0ries i\/o els processos immunoinflamatoris utilitzant estrat\u00e8gies d’alt rendiment, com ara la gen\u00f2mica, la transcript\u00f2mica i la prote\u00f2mica, aix\u00ed com aproximacions funcionals i estructurals per tal de discernir les caracter\u00edstiques cl\u00edniques i patol\u00f2giques dels trastorns rars. A m\u00e9s, treballen per desenvolupar noves ter\u00e0pies moleculars\/cel\u00b7lulars. La multidisciplinarietat del grup els permet enriquir el focus experimental dels seus projectes de recerca.<\/p>\n
El grup ha:<\/p>\nIdentificat i caracteritzat gens responsables de:
\nCistin\u00faria (SLC3A1 i SLC7A9).
\nLisin\u00faria amb intoler\u00e0ncia a prote\u00efnes (LPI) (SLC7A7).
\nLeucoencefalopatia megalencef\u00e0lica amb cistes subcorticals (MLC1) (GlialCAM).
\nMalalties musculars.
\nGenerat els models de ratol\u00ed knockout per a cistin\u00faria i MLC1.
\nContribu\u00eft a la descripci\u00f3 dels fenotips cl\u00ednics i patol\u00f2gics per a les miopaties miofibrilars i tamb\u00e9 per a les miopaties amb agregats de prote\u00efnes.
\nDescrit noves entitats miol\u00f2giques.
\nEstablert una correlaci\u00f3 de genotip \/ fenotip per a la S\u00edndrome de Wolfram basada en l’efecte esperat de les mutacions sobre l’expressi\u00f3 de prote\u00efnes i la primera taxa de progressi\u00f3 de la malaltia.
\nParticipat com a soci en el projecte EURO-WABB al Registre Europeu per als s\u00edndromes Alstr\u00f6m, Barder-Biedl i Wolfram, aix\u00ed com en les seves guies cl\u00edniques.
\nContribu\u00eft a la caracteritzaci\u00f3 molecular dels trastorns espermatog\u00e8nics (identificant variants de seq\u00fc\u00e8ncia associades a la infertilitat, determinant el perfil d’expressi\u00f3 g\u00e8nica del teixit i estudiant mecanismes de regulaci\u00f3 transcripcional i post-translacional)
\nContribu\u00eft a la caracteritzaci\u00f3 molecular d’inhibidors end\u00f2gens de la via de senyalitzaci\u00f3 de calcineurina-NFATc en c\u00e8l\u00b7lules T humanes: la rellev\u00e0ncia fisiol\u00f2gica de les prote\u00efnes RCAN i el seu potencial terap\u00e8utic. Desenvolupament de mol\u00e8cules no pept\u00eddiques que imiten el paper fisiol\u00f2gic de RCAN.\n
Proyectos financiados por el Instituto de Salud Carlos III (ISCIII) y cofinanciados por el Fondo Europeo de Desarrollo Regional (FEDER):<\/em><\/p>\nIdentificaci\u00f3n de nuevos factores pron\u00f3stico y diagn\u00f3stico de patolog\u00edas urogenitales basados en microRNAs en plasma seminal <\/p>\n\t\t\t\t\n Gen\u00e8tica molecular humana Resum El grup de gen\u00e8tica molecular humana t\u00e9 com a objectiu principal comprendre millor les bases gen\u00e8tiques i moleculars de les malalties monog\u00e8niques o complexes heredit\u00e0ries i\/o els processos immunoinflamatoris utilitzant estrat\u00e8gies d’alt rendiment, com ara la gen\u00f2mica, la transcript\u00f2mica i la prote\u00f2mica, aix\u00ed com aproximacions funcionals i estructurals per tal de […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":552,"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-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":""},"class_list":["post-2642","page","type-page","status-publish","hentry"],"publishpress_future_action":{"enabled":false,"date":"2024-11-30 11:08:48","action":"change-status","newStatus":"draft","terms":[],"taxonomy":""},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/pages\/2642","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/comments?post=2642"}],"version-history":[{"count":8,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/pages\/2642\/revisions"}],"predecessor-version":[{"id":25899,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/pages\/2642\/revisions\/25899"}],"up":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/pages\/552"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=2642"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
\n<\/strong>PI15\/00905. 01\/2016-12\/2018. 81.500 \u20ac. IP: Sara Larriba Bartolom\u00e9.
\nProfundizar en el estudio de los niveles de expresi\u00f3n de miRNAs extracelular en semen y evaluar su utilizaci\u00f3n como biomarcador no invasivo en patolog\u00edas urogenitales. La concentraci\u00f3n de ciertos miRNAs (de manera individual y combinada) son capaces de discernir muestras con tumor y sin tumor con una especifidad y sensibilidad suficiente para el dise\u00f1o de un test con utilidad diagn\u00f3stica.\n\n\t\tInvestigadors principals\n\t<\/h2>\n\t\t\t\t\n
\n\t\tErrasti Murugarren, Ekaitz\n\t<\/h4>\n\t\t\t\t\n
\n\t\tLarriba Bartolome, Sara\n\t<\/h4>\n
\n\t\t\n\t\tslarriba@idibell.cat\n\t\t<\/a>\n\t<\/h4>\n
\n\t\tENLLA\u00c7OS RELACIONATS\n\t<\/h4>\n
\n\t\t\n\t\tCIBERER U730 (CB06\/07\/0069)\n\t\t<\/a>\n\t<\/h4>\n
\n\t\t\n\t\tOrphanet – Wolfram Syndrome\n\t\t<\/a>\n\t<\/h4>\n
\n\t\t\n\t\tWolfram Syndrome – guia cl\u00ednica\n\t\t<\/a>\n\t<\/h4>\n
\n\t\t\n\t\tAlstr\u00f6m Syndrome – guia cl\u00ednica\n\t\t<\/a>\n\t<\/h4>\n
\n\t\t\n\t\tBardet – Biedl Syndrome – guia cl\u00ednica\n\t\t<\/a>\n\t<\/h4>\n
\n\t\t\n\t\tBootstratio application\n\t\t<\/a>\n\t<\/h4>\n
\n\t\tEquip\n\t<\/h2>\n\t\t\t\t\t\t\t\t\t\t\t\tCaps de grup\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\tInvestigadors\/es principals\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\tInvestigadors\/es postdoctorals\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\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
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\n\t\tNot\u00edcies relacionades\n\t<\/h2>\n\n","protected":false},"excerpt":{"rendered":"