{"id":6278,"date":"2016-09-29T09:40:11","date_gmt":"2016-09-29T08:40:11","guid":{"rendered":"http:\/\/www.fundacionisabelgemio.com\/fr\/?page_id=6278"},"modified":"2018-02-28T18:06:39","modified_gmt":"2018-02-28T17:06:39","slug":"des-bases-moleculaires-de-maladies-neurometaboliques-et-le-developpement-de-therapies-specifiques-de-changement","status":"publish","type":"page","link":"https:\/\/www.fundacionisabelgemio.com\/fr\/que-faisons-nous\/des-bases-moleculaires-de-maladies-neurometaboliques-et-le-developpement-de-therapies-specifiques-de-changement","title":{"rendered":"Des bases mol\u00e9culaires de maladies neurom\u00e9taboliques et le D\u00e9veloppement de th\u00e9rapies sp\u00e9cifiques de changement"},"content":{"rendered":"\n<style type=\"text\/css\" data-created_by=\"avia_inline_auto\" id=\"style-css-av-av_section-1410f7e6be3791a849a7730ec4d02faf\">\n.avia-section.av-av_section-1410f7e6be3791a849a7730ec4d02faf{\nbackground-repeat:no-repeat;\nbackground-image:url(https:\/\/www.fundacionisabelgemio.com\/wp-content\/uploads\/2015\/02\/IMG_0096_15.jpg);\nbackground-position:0% 0%;\nbackground-attachment:scroll;\n}\n.avia-section.av-av_section-1410f7e6be3791a849a7730ec4d02faf .av-section-color-overlay{\nopacity:0.7;\nbackground-color:#2e2e2e;\n}\n<\/style>\n<div id='av_section_1'  class='avia-section av-av_section-1410f7e6be3791a849a7730ec4d02faf main_color avia-section-default avia-no-shadow  avia-builder-el-0  el_before_av_layout_row  avia-builder-el-first  avia-full-stretch avia-bg-style-scroll av-section-color-overlay-active container_wrap sidebar_right'  data-section-bg-repeat='stretch'><div class=\"av-section-color-overlay-wrap\"><div class=\"av-section-color-overlay\"><\/div><div class='container av-section-cont-open' ><main  role=\"main\" itemprop=\"mainContentOfPage\"  class='template-page content  av-content-small alpha units'><div class='post-entry post-entry-type-page post-entry-6278'><div class='entry-content-wrapper clearfix'>\n\n<style type=\"text\/css\" data-created_by=\"avia_inline_auto\" id=\"style-css-av-av_heading-2e646cbaf6b45b834054c6cec6488d5e\">\n#top .av-special-heading.av-av_heading-2e646cbaf6b45b834054c6cec6488d5e{\npadding-bottom:0;\ncolor:#ffffff;\n}\nbody .av-special-heading.av-av_heading-2e646cbaf6b45b834054c6cec6488d5e .av-special-heading-tag .heading-char{\nfont-size:25px;\n}\n.av-special-heading.av-av_heading-2e646cbaf6b45b834054c6cec6488d5e .special-heading-inner-border{\nborder-color:#ffffff;\n}\n.av-special-heading.av-av_heading-2e646cbaf6b45b834054c6cec6488d5e .av-subheading{\nfont-size:15px;\n}\n<\/style>\n<div  class='av-special-heading av-av_heading-2e646cbaf6b45b834054c6cec6488d5e av-special-heading-h2 custom-color-heading blockquote modern-quote modern-centered  avia-builder-el-1  avia-builder-el-no-sibling '><h2 class='av-special-heading-tag'  itemprop=\"headline\"  >Bases moleculares de enfermedades neurometab\u00f3licas y Desarrollo de terapias espec\u00edficas de mutaci\u00f3n<\/h2><div class=\"special-heading-border\"><div class=\"special-heading-inner-border\"><\/div><\/div><\/div>\n\n<\/div><\/div><\/main><!-- close content main element --><\/div><\/div><\/div><div id='av-layout-grid-1'  class='av-layout-grid-container av-av_layout_row-caf1f26e08707a2ebe9176b630e736c2 entry-content-wrapper main_color av-flex-cells  avia-builder-el-2  el_after_av_section  el_before_av_one_half  grid-row-not-first  container_wrap sidebar_right'  >\n\n<style type=\"text\/css\" data-created_by=\"avia_inline_auto\" id=\"style-css-av-av_cell_three_fourth-5227a743201b625eadc00b27db60eab9\">\n.flex_cell.av-av_cell_three_fourth-5227a743201b625eadc00b27db60eab9{\nvertical-align:top;\n}\n.responsive #top #wrap_all .flex_cell.av-av_cell_three_fourth-5227a743201b625eadc00b27db60eab9{\npadding:30px 30px 30px 30px !important;\n}\n<\/style>\n<div class='flex_cell av-av_cell_three_fourth-5227a743201b625eadc00b27db60eab9 av-gridrow-cell av_three_fourth no_margin  avia-builder-el-3  el_before_av_cell_one_fourth  avia-builder-el-first ' ><div class='flex_cell_inner'><section  class='av_textblock_section av-av_textblock-0366cc7376be6c9e82a3e9cc8987b64f'  itemscope=\"itemscope\" itemtype=\"https:\/\/schema.org\/CreativeWork\" ><div class='avia_textblock'  itemprop=\"text\" ><p style=\"text-align: center;\">Gracias a muchas personas hemos aportado <strong>190.000\u20ac<\/strong>\u00a0a esta l\u00ednea de investigaci\u00f3n<\/p>\n<\/div><\/section><br \/>\n\n<style type=\"text\/css\" data-created_by=\"avia_inline_auto\" id=\"style-css-av-av_hr-a6de236e6c183bbbd700292deacd2b52\">\n#top .hr.hr-invisible.av-av_hr-a6de236e6c183bbbd700292deacd2b52{\nheight:20px;\n}\n<\/style>\n<div  class='hr av-av_hr-a6de236e6c183bbbd700292deacd2b52 hr-invisible  avia-builder-el-5  el_after_av_textblock  el_before_av_video '><span class='hr-inner '><span class=\"hr-inner-style\"><\/span><\/span><\/div><br \/>\n<div  class='avia-video av-av_video-7aa0467db59c16c864c5b5b11d1f29b5 avia-video-16-9 av-no-preview-image avia-video-load-always av-lazyload-immediate av-lazyload-video-embed'  itemprop=\"video\" itemtype=\"https:\/\/schema.org\/VideoObject\"  data-original_url='https:\/\/www.youtube.com\/watch?v=9lHwubROEhU'><script type='text\/html' class='av-video-tmpl'><div class='avia-iframe-wrap'><iframe loading=\"lazy\" width=\"1500\" height=\"844\" src=\"https:\/\/www.youtube.com\/embed\/9lHwubROEhU?wmode=transparent&amp;rel=0&amp;feature=oembed&autoplay=0&loop=0&controls=1&mute=0\" frameborder=\"0\" allow=\"autoplay; encrypted-media\" allowfullscreen><\/iframe><\/div><\/script><div class='av-click-to-play-overlay'><div class=\"avia_playpause_icon\"><\/div><\/div><\/div><br \/>\n\n<style type=\"text\/css\" data-created_by=\"avia_inline_auto\" id=\"style-css-av-av_hr-a6de236e6c183bbbd700292deacd2b52\">\n#top .hr.hr-invisible.av-av_hr-a6de236e6c183bbbd700292deacd2b52{\nheight:20px;\n}\n<\/style>\n<div  class='hr av-av_hr-a6de236e6c183bbbd700292deacd2b52 hr-invisible  avia-builder-el-7  el_after_av_video  el_before_av_textblock '><span class='hr-inner '><span class=\"hr-inner-style\"><\/span><\/span><\/div><br \/>\n<section  class='av_textblock_section av-av_textblock-0366cc7376be6c9e82a3e9cc8987b64f'  itemscope=\"itemscope\" itemtype=\"https:\/\/schema.org\/CreativeWork\" ><div class='avia_textblock'  itemprop=\"text\" ><p>Los proyectos de investigaci\u00f3n del \u201c<strong>Centro de Investigaci\u00f3n y diagn\u00f3stico de enfermedades metab\u00f3licas hereditarias<\/strong>\u201d, del Centro de Biolog\u00eda Molecular y la Universidad Aut\u00f3noma de Madrid van dirigidos a:<\/p>\n<ul>\n<li>Desarrollo de t\u00e9cnicas gen\u00f3micas para mejorar el diagn\u00f3stico de enfermedades metab\u00f3licas hereditarias (EMH) en especial enfocadas a la caracterizaci\u00f3n gen\u00e9tica de pacientes con DEFECTOS CONG\u00c9NITOS DE GLICOSILACI\u00d3N Y ENFERMEDADES MITOCONDRIALES mediante el uso de la secuenciaci\u00f3n masiva de exomas y genomas y RNAseq.<\/li>\n<li>Investigaci\u00f3n y desarrollo de terapias farmacol\u00f3gicas dirigidas a la recuperaci\u00f3n funcional de mutantes identificados en pacientes con EMH en concreto TERAPIA ANTISENTIDO y CHAPERONAS FARMACOL\u00d3GICAS como aproximaciones terap\u00e9uticas transversales y aplicables a numerosas EMH<\/li>\n<li>Evaluaci\u00f3n de la DISFUNCI\u00d3N y DIN\u00c1MICA MITOCONDRIAL y evaluaci\u00f3n de firmas comunes de neuropatogenicidad en defectos cong\u00e9nitos de glicosilaci\u00f3n y enfermedades mitocondriales aproxim\u00e1ndonos as\u00ed a la identificaci\u00f3n de nuevas dianas terap\u00e9uticas accionables<\/li>\n<li>B\u00fasqueda de BIOMARCADORES para mejorar el diagn\u00f3stico y como predictores de severidad de EMH. Estamos trabajando en la identificaci\u00f3n de miRNA y otras biomol\u00e9culas con el prop\u00f3sito de poder evaluar la evoluci\u00f3n de los pacientes y como marcadores del efecto terap\u00e9utico de los f\u00e1rmacos que se desarrollen.<\/li>\n<li>Desarrollo de MODELOS C\u00c9LULAS de enfermedad como herramientas v\u00e1lidas y obligatorias para entender la patog\u00e9nesis de las enfermedades neurometab\u00f3licas y paso crucial y necesario para el desarrollo de terapias. Se est\u00e1 generando una colecci\u00f3n de iPS derivadas de fibroblastos de pacientes con EMH para su posterior diferenciaci\u00f3n a hepatocitos, progenitores neuronales o cardiomiocitos.<\/li>\n<li>REGISTRO de pacientes y de muestras con enfermedades metab\u00f3licas hereditarias.<\/li>\n<\/ul>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"size-full wp-image-5947 aligncenter\" src=\"http:\/\/www.fundacionisabelgemio.com\/wp-content\/uploads\/2016\/05\/Colaboradores.png\" alt=\"Colaboradores\" width=\"534\" height=\"131\" srcset=\"https:\/\/www.fundacionisabelgemio.com\/wp-content\/uploads\/2016\/05\/Colaboradores.png 534w, https:\/\/www.fundacionisabelgemio.com\/wp-content\/uploads\/2016\/05\/Colaboradores-300x74.png 300w, https:\/\/www.fundacionisabelgemio.com\/wp-content\/uploads\/2016\/05\/Colaboradores-450x110.png 450w\" sizes=\"auto, (max-width: 534px) 100vw, 534px\" \/><\/p>\n<\/div><\/section><br \/>\n<div class='flex_column av-av_one_half-2a9015ff38129c418a3f2eafba3e9512 av_one_half  avia-builder-el-9  el_after_av_textblock  el_before_av_one_half  first flex_column_div column-top-margin'     ><div  class='avia-testimonial-wrapper av-av_testimonials-dfdcbe2bbda75220796248d01d289b52 avia-grid-testimonials avia-grid-1-testimonials avia_animate_when_almost_visible' >\n<section class=\"avia-testimonial-row\"><div class='avia-testimonial av-av_testimonial_single-7a7b2c6e17cc385fb0656468d211e89d avia-testimonial-row-1 avia-first-testimonial flex_column no_margin av_one_full'><div class='avia-testimonial_inner'  itemscope=\"itemscope\" itemtype=\"https:\/\/schema.org\/CreativeWork\" ><div class='avia-testimonial-image'  itemprop=\"image\" ><img loading=\"lazy\" decoding=\"async\" width=\"180\" height=\"180\" src=\"https:\/\/www.fundacionisabelgemio.com\/wp-content\/uploads\/2016\/05\/belen-perez-1-180x180.jpg\" class=\"attachment-square size-square\" alt=\"\" srcset=\"https:\/\/www.fundacionisabelgemio.com\/wp-content\/uploads\/2016\/05\/belen-perez-1-180x180.jpg 180w, https:\/\/www.fundacionisabelgemio.com\/wp-content\/uploads\/2016\/05\/belen-perez-1-80x80.jpg 80w, https:\/\/www.fundacionisabelgemio.com\/wp-content\/uploads\/2016\/05\/belen-perez-1-300x300.jpg 300w, https:\/\/www.fundacionisabelgemio.com\/wp-content\/uploads\/2016\/05\/belen-perez-1-36x36.jpg 36w, https:\/\/www.fundacionisabelgemio.com\/wp-content\/uploads\/2016\/05\/belen-perez-1-120x120.jpg 120w, https:\/\/www.fundacionisabelgemio.com\/wp-content\/uploads\/2016\/05\/belen-perez-1-450x450.jpg 450w, https:\/\/www.fundacionisabelgemio.com\/wp-content\/uploads\/2016\/05\/belen-perez-1.jpg 600w\" sizes=\"auto, (max-width: 180px) 100vw, 180px\" \/><\/div><div class='avia-testimonial-content '><div class='avia-testimonial-markup-entry-content'  itemprop=\"text\" ><\/div><\/div><div class=\"avia-testimonial-meta\"><div class=\"avia-testimonial-arrow-wrap\"><div class=\"avia-arrow\"><\/div><\/div><div class='avia-testimonial-meta-mini'  itemprop=\"author\" itemscope=\"itemscope\" itemtype=\"https:\/\/schema.org\/Person\" ><strong  class='avia-testimonial-name'  itemprop=\"name\" >Dra. Bel\u00e9n P\u00e9rez<\/strong><span  class='avia-testimonial-subtitle '  itemprop=\"jobTitle\" >Investigadora Jefe<\/span><span class='hidden avia-testimonial-markup-link'  itemprop=\"url\" >manually,http:\/\/www.fundacionisabelgemio.com\/fr\/propos-la-fondation\/dra-belen-perez<\/span><span class=\"avia-testimonial-subtitle-sep\">&ndash;<\/span><a class='aviablank avia-testimonial-link' href='manually,http:\/\/www.fundacionisabelgemio.com\/fr\/propos-la-fondation\/dra-belen-perez' rel=\u2019noopener noreferrer\u2019>Mas informacion<\/a><\/div><\/div><\/div><\/div><\/section>\n<\/div><\/div>\n<style type=\"text\/css\" data-created_by=\"avia_inline_auto\" id=\"style-css-av-av_one_half-9c1d454dc06f7247226bc4e8f931daae\">\n.flex_column.av-av_one_half-9c1d454dc06f7247226bc4e8f931daae{\n-webkit-border-radius:0px 0px 0px 0px;\n-moz-border-radius:0px 0px 0px 0px;\nborder-radius:0px 0px 0px 0px;\npadding:0px 0px 0px 0px;\n}\n<\/style>\n<div class='flex_column 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