{"id":726,"date":"2024-06-05T11:00:00","date_gmt":"2024-06-05T14:00:00","guid":{"rendered":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/?p=726"},"modified":"2024-06-10T09:07:25","modified_gmt":"2024-06-10T12:07:25","slug":"presentacion-de-trabajo-en-la-conferencia-europea-de-genetica-humana-2024","status":"publish","type":"post","link":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/?p=726","title":{"rendered":"Presentaci\u00f3n de trabajo en la Conferencia Europea de Gen\u00e9tica Humana 2024"},"content":{"rendered":"\n<h2 class=\"wp-block-heading has-text-align-center\">Presentaci\u00f3n de trabajo en la Conferencia Europea de Gen\u00e9tica Humana 2024<\/h2>\n\n\n\n<hr class=\"wp-block-separator has-text-color has-ast-global-color-3-color has-alpha-channel-opacity has-ast-global-color-3-background-color has-background is-style-wide\" style=\"margin-bottom:var(--wp--preset--spacing--70)\"\/>\n\n\n<div style=\"font-size:14px; margin-bottom:var(--wp--preset--spacing--60);\" class=\"wp-block-post-date\"><time datetime=\"2024-06-05T11:00:00-03:00\">5 de junio de 2024<\/time><\/div>\n\n\n<figure class=\"wp-block-image alignright size-large is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"768\" height=\"1024\" src=\"https:\/\/ucthp.hospitalelcalafate.gob.ar\/wp-content\/uploads\/2024\/06\/05052024-Presentacion-de-trabajo-en-el-Simposio-Europeo-de-Genetica-Humana-768x1024.webp\" alt=\"\" class=\"wp-image-727\" style=\"width:332px;height:auto\" srcset=\"https:\/\/ucthp.hospitalelcalafate.gob.ar\/wp-content\/uploads\/2024\/06\/05052024-Presentacion-de-trabajo-en-el-Simposio-Europeo-de-Genetica-Humana-768x1024.webp 768w, https:\/\/ucthp.hospitalelcalafate.gob.ar\/wp-content\/uploads\/2024\/06\/05052024-Presentacion-de-trabajo-en-el-Simposio-Europeo-de-Genetica-Humana-225x300.webp 225w, https:\/\/ucthp.hospitalelcalafate.gob.ar\/wp-content\/uploads\/2024\/06\/05052024-Presentacion-de-trabajo-en-el-Simposio-Europeo-de-Genetica-Humana-1152x1536.webp 1152w, https:\/\/ucthp.hospitalelcalafate.gob.ar\/wp-content\/uploads\/2024\/06\/05052024-Presentacion-de-trabajo-en-el-Simposio-Europeo-de-Genetica-Humana.webp 1200w\" sizes=\"auto, (max-width: 768px) 100vw, 768px\" \/><\/figure>\n\n\n\n<p class=\"has-medium-font-size\">Entre el 1 y 4 de junio, en Berl\u00edn, Alemania, tuvo lugar la Conferencia Europea de Gen\u00e9tica Humana 2024. En la misma, la Lic. Ana Gomes, becaria de la UCTHP, present\u00f3 el trabajo \u201c<em>Stability and interaction of missense variants in MYBPC3<\/em>\u201d. Este trabajo plantea la evaluaci\u00f3n de variantes gen\u00e9ticas patol\u00f3gicas en la estructura de la prote\u00edna C fijadora de miosina cardiaca, ampliando el conocimiento sobre el efecto de las variantes gen\u00e9ticas encontradas en pacientes (o la bibliograf\u00eda) en el funcionamiento patol\u00f3gico de la contracci\u00f3n card\u00edaca y sobre el sarc\u00f3mero del m\u00fasculo card\u00edaco. <\/p>\n\n\n\n<p class=\"has-medium-font-size\">Por otro lado, el an\u00e1lisis de estas variantes en su conjunto nos permitir\u00e1 generar bases de datos de variantes, desarrollando algoritmos que acelerar\u00e1n los tiempos diagn\u00f3sticos dentro del \u00e1rea de la gen\u00e9tica humana. Dado que en los \u00faltimos a\u00f1os se han desarrollado nuevas drogas que act\u00faan contrarrestando variantes espec\u00edficas en este gen, el estudio de estas variantes nos permite determinar qu\u00e9 pacientes pueden ser beneficiados con estas nuevas terapias.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Presentaci\u00f3n de trabajo en la Conferencia Europea de Gen\u00e9tica Humana 2024 Entre el 1 y 4 de junio, en Berl\u00edn, Alemania, tuvo lugar la Conferencia Europea de Gen\u00e9tica Humana 2024. En la misma, la Lic. Ana Gomes, becaria de la UCTHP, present\u00f3 el trabajo \u201cStability and interaction of missense variants in MYBPC3\u201d. Este trabajo plantea [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":727,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_eb_attr":"","_uag_custom_page_level_css":"","advgb_blocks_editor_width":"","advgb_blocks_columns_visual_guide":"","site-sidebar-layout":"default","site-content-layout":"","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":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","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":[8,1],"tags":[],"class_list":["post-726","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-divulgacion","category-todas"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.3 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Presentaci\u00f3n de trabajo en la Conferencia Europea de Gen\u00e9tica Humana 2024 - UCT HP<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/ucthp.hospitalelcalafate.gob.ar\/?p=726\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Presentaci\u00f3n de trabajo en la Conferencia Europea de Gen\u00e9tica Humana 2024 - UCT HP\" \/>\n<meta property=\"og:description\" content=\"Presentaci\u00f3n de trabajo en la Conferencia Europea de Gen\u00e9tica Humana 2024 Entre el 1 y 4 de junio, en Berl\u00edn, Alemania, tuvo lugar la Conferencia Europea de Gen\u00e9tica Humana 2024. 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de trabajo en la Conferencia Europea de Gen\u00e9tica Humana 2024 Entre el 1 y 4 de junio, en Berl\u00edn, Alemania, tuvo lugar la Conferencia Europea de Gen\u00e9tica Humana 2024. En la misma, la Lic. Ana Gomes, becaria de la UCTHP, present\u00f3 el trabajo \u201cStability and interaction of missense variants in MYBPC3\u201d. Este trabajo plantea&hellip;","coauthors":[],"tax_additional":{"categories":{"linked":["<a href=\"https:\/\/ucthp.hospitalelcalafate.gob.ar\/?cat=8\" class=\"advgb-post-tax-term\">divulgaci\u00f3n<\/a>","<a href=\"https:\/\/ucthp.hospitalelcalafate.gob.ar\/?cat=1\" class=\"advgb-post-tax-term\">Todas<\/a>"],"unlinked":["<span class=\"advgb-post-tax-term\">divulgaci\u00f3n<\/span>","<span class=\"advgb-post-tax-term\">Todas<\/span>"]}},"comment_count":"0","relative_dates":{"created":"Publicado 2 a\u00f1os hace","modified":"Actualizado 2 a\u00f1os hace"},"absolute_dates":{"created":"Publicado el 5 de junio de 2024","modified":"Actualizado el 10 de junio de 2024"},"absolute_dates_time":{"created":"Publicado el 5 de junio de 2024 11:00 am","modified":"Actualizado el 10 de junio de 2024 9:07 am"},"featured_img_caption":"","series_order":"","_links":{"self":[{"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=\/wp\/v2\/posts\/726","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=726"}],"version-history":[{"count":4,"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=\/wp\/v2\/posts\/726\/revisions"}],"predecessor-version":[{"id":731,"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=\/wp\/v2\/posts\/726\/revisions\/731"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=\/wp\/v2\/media\/727"}],"wp:attachment":[{"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=726"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=726"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=726"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}