{"id":12870,"date":"2016-05-18T14:38:12","date_gmt":"2016-05-18T13:38:12","guid":{"rendered":"https:\/\/www.fundacionisabelgemio.com\/what-do-we-do\/bases-moleculares-de-enfermedades-neurometabolicas-y-desarrollo-de-terapias-especificas-de-mutacion"},"modified":"2024-11-29T14:37:35","modified_gmt":"2024-11-29T13:37:35","slug":"bases-moleculares-de-enfermedades-neurometabolicas-y-desarrollo-de-terapias-especificas-de-mutacion","status":"publish","type":"page","link":"https:\/\/www.fundacionisabelgemio.com\/en\/what-do-we-do\/bases-moleculares-de-enfermedades-neurometabolicas-y-desarrollo-de-terapias-especificas-de-mutacion","title":{"rendered":"Bases moleculares de enfermedades neurometab\u00f3licas y desarrollo de terapias espec\u00edficas de mutaci\u00f3n"},"content":{"rendered":"\n<style type=\"text\/css\" data-created_by=\"avia_inline_auto\" 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class='template-page content  av-content-small alpha units'><div class='post-entry post-entry-type-page post-entry-12870'><div class='entry-content-wrapper clearfix'>\n\n<style type=\"text\/css\" data-created_by=\"avia_inline_auto\" id=\"style-css-av-u08dfl-dcb7391a2f516d8dcf000fccb1fcc36c\">\n#top .av-special-heading.av-u08dfl-dcb7391a2f516d8dcf000fccb1fcc36c{\npadding-bottom:0;\ncolor:#ffffff;\n}\nbody .av-special-heading.av-u08dfl-dcb7391a2f516d8dcf000fccb1fcc36c .av-special-heading-tag .heading-char{\nfont-size:25px;\n}\n.av-special-heading.av-u08dfl-dcb7391a2f516d8dcf000fccb1fcc36c .special-heading-inner-border{\nborder-color:#ffffff;\n}\n.av-special-heading.av-u08dfl-dcb7391a2f516d8dcf000fccb1fcc36c .av-subheading{\nfont-size:15px;\n}\n<\/style>\n<div  class='av-special-heading av-u08dfl-dcb7391a2f516d8dcf000fccb1fcc36c 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-t1dve9-da59291221bc5b71ebd19f3f9fb7872b 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-rab7kh-6818db5b102cd9f682354d04982eebb8\">\n.flex_cell.av-rab7kh-6818db5b102cd9f682354d04982eebb8{\nvertical-align:top;\n}\n.responsive #top #wrap_all .flex_cell.av-rab7kh-6818db5b102cd9f682354d04982eebb8{\npadding:30px 30px 30px 30px !important;\n}\n<\/style>\n<div class='flex_cell av-rab7kh-6818db5b102cd9f682354d04982eebb8 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-pxlb4x-d980774ec2f3ce8fb4b758f60320adb5'  itemscope=\"itemscope\" itemtype=\"https:\/\/schema.org\/CreativeWork\" ><div class='avia_textblock'  itemprop=\"text\" ><p style=\"text-align: center;\">Gracias a muchas personas hemos aportado\u00a0<strong>310.000\u20ac<\/strong>\u00a0a esta l\u00ednea de investigaci\u00f3n <strong>(2016-2020)<\/strong><\/p>\n<\/div><\/section><br \/>\n\n<style type=\"text\/css\" data-created_by=\"avia_inline_auto\" id=\"style-css-av-ngv2up-109d4ad46ae22804a0f51875f94e729d\">\n#top .hr.hr-invisible.av-ngv2up-109d4ad46ae22804a0f51875f94e729d{\nheight:20px;\n}\n<\/style>\n<div  class='hr av-ngv2up-109d4ad46ae22804a0f51875f94e729d 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-lql4z5-0f632c4de0402e4396cebe2f14ebb9ee 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\" title=\"DRA. BEL\u00c9N P\u00c9REZ Centro de Biolog\u00eda Molecular Universidad Aut\u00f3noma de Madrid\" 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=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share\" referrerpolicy=\"strict-origin-when-cross-origin\" 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-l96f8x-aa2de2486ccb3b32c15607b1658ffcb5\">\n#top .hr.hr-invisible.av-l96f8x-aa2de2486ccb3b32c15607b1658ffcb5{\nheight:20px;\n}\n<\/style>\n<div  class='hr av-l96f8x-aa2de2486ccb3b32c15607b1658ffcb5 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-io333l-51396e3db984fedc73b2cf6534b0388a'  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-h3ch5d-48096994f3dbd3e99d1caafd5310f255 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-1m06c1-314fc1e57057675c01b7d211321c6808 avia-grid-testimonials avia-grid-1-testimonials avia_animate_when_almost_visible' >\n<section class=\"avia-testimonial-row\"><div class='avia-testimonial av-e4h629-cdbd4eb05454975c8accb6535e9e5087 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\" >http:\/\/www.fundacionisabelgemio.com\/sobre-la-fundacion\/dra-belen-perez\/<\/span><span class=\"avia-testimonial-subtitle-sep\">&ndash;<\/span><a class='aviablank avia-testimonial-link' href='http:\/\/www.fundacionisabelgemio.com\/sobre-la-fundacion\/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-d22pjl-f8c3b5bdc303b41428912011e8e4f8bc\">\n.flex_column.av-d22pjl-f8c3b5bdc303b41428912011e8e4f8bc{\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 av-d22pjl-f8c3b5bdc303b41428912011e8e4f8bc av_one_half  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