{"id":5842,"date":"2022-10-01T20:29:21","date_gmt":"2022-10-01T20:29:21","guid":{"rendered":"http:\/\/carola.wwwnl1-sr12.supercp.com\/?p=5842"},"modified":"2023-04-17T15:35:22","modified_gmt":"2023-04-17T15:35:22","slug":"conferencia-familiar-2022","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/es\/conferencia-familiar-2022\/","title":{"rendered":"Resumen de la Conferencia Americana de la Familia 2022"},"content":{"rendered":"<p>La conferencia familiar bianual se celebr\u00f3 en Houston (Texas, EE.UU.) del 23 al 24 de septiembre de 2022. Fue organizada por la profesora Huda Zoghbi, del Instituto de Investigaci\u00f3n Neurol\u00f3gica (NRI, Houston, Texas). El programa estuvo repleto e incluy\u00f3 presentaciones sobre avances cient\u00edficos en el s\u00edndrome. <\/p>\n\n\n\n<figure class=\"wp-block-image size-large is-resized\"><img fetchpriority=\"high\" decoding=\"async\" src=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022_2-edited.jpg\" alt=\"\" class=\"wp-image-8778\" width=\"413\" height=\"551\" srcset=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022_2-edited.jpg 800w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022_2-edited-225x300.jpg 225w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022_2-edited-768x1024.jpg 768w\" sizes=\"(max-width: 413px) 100vw, 413px\" \/><figcaption class=\"wp-element-caption\">David y la profesora Huda Zoghbi<\/figcaption><\/figure>\n\n\n\n<p>David Covini, vicepresidente de la asociaci\u00f3n francesa \"Les petits Mec P2\", presidente de la asociaci\u00f3n austriaca \"Lasst uns MDs heilen\" y miembro de los comit\u00e9s cient\u00edficos de ambas asociaciones, visit\u00f3 el lugar. Se reuni\u00f3 con las familias presentes, los miembros activos de las asociaciones americanas y los investigadores.<\/p>\n\n\n\n<p>A continuaci\u00f3n, David fue recibido por la profesora Huda Zoghbi y su equipo. La reuni\u00f3n brind\u00f3 la oportunidad de debatir con m\u00e1s detalle los avances de los proyectos y determinar las acciones que requieren nuestra ayuda y contribuci\u00f3n.<\/p>\n\n\n\n<figure class=\"wp-block-image size-large is-resized\"><img decoding=\"async\" data-src=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022-1024x768.jpg\" alt=\"\" class=\"wp-image-8770 lazyload\" width=\"636\" height=\"477\" data-srcset=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022-1024x768.jpg 1024w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022-300x225.jpg 300w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022-768x576.jpg 768w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022-1536x1152.jpg 1536w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022.jpg 1600w\" data-sizes=\"(max-width: 636px) 100vw, 636px\" src=\"data:image\/svg+xml;base64,PHN2ZyB3aWR0aD0iMSIgaGVpZ2h0PSIxIiB4bWxucz0iaHR0cDovL3d3dy53My5vcmcvMjAwMC9zdmciPjwvc3ZnPg==\" style=\"--smush-placeholder-width: 636px; --smush-placeholder-aspect-ratio: 636\/477;\" \/><figcaption class=\"wp-element-caption\">De izquierda a derecha Dr. Pehlivan, Pr. Zoghbi, David, Ak Muharrem, Dr. Suter<\/figcaption><\/figure>\n\n\n\n<p><\/p>\n\n\n\n<p>A continuaci\u00f3n, el Prof. Huda Zoghbi, el Dr. Davut Pehlivan y el Dr. Bernhard Suter nos resumieron los puntos clave de la conferencia:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Ionis Pharmaceuticals tiene previsto lanzar un estudio observacional para conocer mejor la historia natural de la enfermedad en 2023. Se espera que el Estudio de la Historia Natural (NHS) se lleve a cabo en los EE.UU. y tendr\u00e1 un tama\u00f1o limitado a aproximadamente 40 personas con duplicaci\u00f3n del gen MECP2. Se prev\u00e9 que el estudio de historia natural incluya visitas trimestrales en el primer a\u00f1o, seguidas de visitas semestrales en el segundo a\u00f1o del estudio. Ionis Pharmaceuticals tiene la intenci\u00f3n de interactuar con la FDA en 2023. Sin embargo, es importante se\u00f1alar que se trata de un proceso independiente de la presentaci\u00f3n o aprobaci\u00f3n de una solicitud de nuevo f\u00e1rmaco en investigaci\u00f3n (IND).<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>El Dr. Davut Pehlivan y el Dr. Sameer Bajikar hablaron sobre los estudios gen\u00f3micos. Los estudios gen\u00f3micos siguen revelando que los diferentes tipos de duplicaci\u00f3n (es decir, simple - compleja - triple) y los niveles medidos de prote\u00edna MeCP2 guiar\u00e1n la dosis de ASO (oligonucle\u00f3tidos antisentido) que se administrar\u00e1. El reclutamiento para los estudios gen\u00e9ticos est\u00e1 en marcha y pueden participar personas de todo el mundo.<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>La Dra. Mirjana Maletic-Savatic habl\u00f3 sobre los estudios de biomarcadores. Se est\u00e1n llevando a cabo estudios de descubrimiento de biomarcadores. Se han identificado varios biomarcadores que permiten diferenciar entre el s\u00edndrome de duplicaci\u00f3n, el s\u00edndrome de Rett y los individuos sanos. El objetivo ahora es ampliar la lista de biomarcadores mediante el estudio de progresi\u00f3n de la enfermedad del NHS e identificar uno o dos biomarcadores potentes que puedan reflejar la gravedad de la enfermedad y la respuesta al tratamiento con ASO.<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>La Dra. Sarika Peters y el Dr. Jeff Neul hablaron de los avances en las medidas de resultados. Se intentar\u00e1 desarrollar una escala de impresi\u00f3n cl\u00ednica multic\u00e9ntrica con el objetivo de utilizarla en el pr\u00f3ximo ensayo cl\u00ednico.<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>El Dr. Zhenya Ivakine present\u00f3 un nuevo modelo de rat\u00f3n que expresa tanto MECP2 como IRAK1 con el objetivo de crear un mejor modelo animal para los estudios sobre el s\u00edndrome. Tambi\u00e9n ofreci\u00f3 una actualizaci\u00f3n sobre la edici\u00f3n del genoma basada en CRISPR\/Cas9 en la duplicaci\u00f3n del gen MECP2. Aunque los resultados son alentadores, se necesitan m\u00e1s estudios de laboratorio antes de pasar a estudios en humanos.<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>El Dr. Ashley Anderson present\u00f3 los resultados preliminares de un estudio sobre los reguladores de MeCP2. La inhibici\u00f3n de estos reguladores podr\u00eda dar lugar a nuevos tratamientos, pero estos estudios se encuentran en una fase temprana y necesitan desarrollarse m\u00e1s antes de pasar a estudios en humanos.<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Los expertos cl\u00ednicos tambi\u00e9n hablaron de problemas comunes (por ejemplo, gastrointestinales, epilepsia, infecciones frecuentes) en los portadores de la duplicaci\u00f3n. Dado que la epilepsia es el principal problema que provoca la regresi\u00f3n de los pacientes y que no existen directrices claras sobre la medicaci\u00f3n anticonvulsiva, tienen previsto poner en marcha una amplia investigaci\u00f3n.<\/li>\n<\/ul>\n\n\n\n<p><\/p>","protected":false},"excerpt":{"rendered":"<p>La conf\u00e9rence biannuelle des familles s&rsquo;est tenue \u00e0 Houston (Texas, USA) du 23 au 24 Septembre 2022. Elle \u00e9tait organis\u00e9e par Pr. Huda Zoghbi de l\u2019institut de recherche neurologique (NRI, [&hellip;]<\/p>","protected":false},"author":2,"featured_media":5845,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[7],"tags":[],"class_list":["post-5842","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-actualite"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>R\u00e9sum\u00e9 de la conf\u00e9rence am\u00e9ricaine des familles 2022 - DupMECP2<\/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:\/\/dupmecp2.eu\/es\/conferencia-familiar-2022\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"R\u00e9sum\u00e9 de la conf\u00e9rence am\u00e9ricaine des familles 2022 - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"La conf\u00e9rence biannuelle des familles s&rsquo;est tenue \u00e0 Houston (Texas, USA) du 23 au 24 Septembre 2022. 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