{"id":15080,"date":"2022-10-01T20:29:21","date_gmt":"2022-10-01T20:29:21","guid":{"rendered":"https:\/\/dupmecp2.eu\/resume-de-la-conference-americaine-des-familles-2022\/"},"modified":"2023-02-19T19:51:35","modified_gmt":"2023-02-19T19:51:35","slug":"summary-of-the-american-conference-of-families-2022","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/en\/summary-of-the-american-conference-of-families-2022\/","title":{"rendered":"Resumen de la conferencia familiar de 2022"},"content":{"rendered":"

La conferencia familiar bianual se celebr\u00f3 en Houston (Texas, EE.UU.) del 23 al 24 de septiembre de 2022, esta fue organizada por la Prof. Huda Zoghbi del Instituto de Investigaci\u00f3n Neurol\u00f3gica (NRI, Houston, Texas). El programa fue muy rico e incluy\u00f3 presentaciones de avances cient\u00edficos sobre el s\u00edndrome. <\/p>\n\n\n\n

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David y Professor Huda Zoghbi<\/figcaption><\/figure>\n\n\n\n

David Covini, vice-presidente de la asociaci\u00f3n francesa \" Les petits Mec P2 \", presidente de la asociaci\u00f3n austriaca \" Lasst uns MDS heilen y miembro de las comisiones cient\u00edficas de ambas ONG asisti\u00f3 al acto; conoci\u00f3 a las familias participantes, a los miembros activos de las asociaciones americanas y a los investigadores.<\/p>\n\n\n\n

David was welcomed by Prof. Huda Zoghbi and her team, and this meeting enabled them to discuss in greater detail the evolution of the projects and identify the actions that need our help and contribution.<\/p>\n\n\n\n

\"\"
Foto de izquierda a derecha (MD Pehlivan, Pr. Zoghbi, David, Ak Muharrem, MD Suter<\/figcaption><\/figure>\n\n\n\n

<\/p>\n\n\n\n

Prof. Huda Zoghbi, Dr. Davut Pehlivan y el Dr. Bernhard Suter nos resumieron posteriormente los puntos importantes de la conferencia:<\/p>\n\n\n\n

    \n
  • Ionis Pharmaceuticals intends to launch an observational or natural history study to learn more about the natural progression of the MECP2 duplication syndrome (MDS) in 2023. Se espera que el estudio de historia natural se realice en Estados Unidos y su tama\u00f1o se limitar\u00e1 a aproximadamente 40 individuos con MDS. Se prev\u00e9 que el estudio de historia natural conste de visitas trimestrales durante el primer a\u00f1o, seguidas de visitas semestrales durante el segundo a\u00f1o. Ionis Pharmaceuticals expects to interact with the FDA in 2023, but it is important to note that this is different from the presentation or approval of an IND (Investigational New Drug application).<\/li>\n<\/ul>\n\n\n\n
      \n
    • Doctors Davut Pehlivan and Sameer Bajikar spoke about the genomic studies, which continue to reveal that the various types of duplication (i.e. simple - complete - triplication) and mediciones of the MeCP2 protein level will support the dosificaci\u00f3n of the ASO (Antisentitial Oligonucleotide). The reclassification for genetic studies is underway and can be carried out from anywhere in the world.<\/li>\n<\/ul>\n\n\n\n
        \n
      • Dra. Mirjana Maletic-Savatic spoke about biomarker studies. Biomarker discovery studies are making good progress and we have a number of candidate biomarkers that differ between MDS, Rett and healthy individuals. Nuestro objetivo es reducir la lista de biomarcadores candidatos mediante el estudio NHS e identificar uno o dos biomarcadores potentes que puedan reflejar la gravedad de la enfermedad y la respuesta al ASO.<\/li>\n<\/ul>\n\n\n\n
          \n
        • Los doctores Sarika Peters y Jeff Neul hablaron sobre el desarrollo de medidas de resultados. Habr\u00e1 un esfuerzo multic\u00e9ntrico de escala de impresi\u00f3n cl\u00ednica con el objetivo de utilizar dicha escala en el pr\u00f3ximo ensayo cl\u00ednico.<\/li>\n<\/ul>\n\n\n\n
            \n
          • El Dr. Zhenya Ivakine inform\u00f3 sobre un modelo en ratones desarrollado recientemente que expresa tanto MECP2 como IRAK1, con el objetivo de mejorar el modelo animal que se utilizar\u00e1 en los estudios de MDS. El tambi\u00e9n present\u00f3 actualizaci\u00f3n sobre la CRISPR\/Cas9 edici\u00f3n del genoma basada en MDS. Aunque los resultados son alentadores se necesitan m\u00e1s estudios de laboratorio antes de proceder con los estudios en humanos.<\/li>\n<\/ul>\n\n\n\n
              \n
            • La Dra. Ashley Anderson presented the preliminary results of a study designed to find MECP2 regulators. Inhibition of these regulators could lead to new treatments, but these studies are at an initial stage and require more work.<\/li>\n<\/ul>\n\n\n\n
                \n
              • The clinical experts also told us about common problems (gastrointestinal, epilepsy, frequent infections, etc.) in MDS. Dado que la epilepsia es el principal problema que causa regresi\u00f3n en MDS y no existe una orientaci\u00f3n clara sobre la medicaci\u00f3n anticonvulsiva, planeamos lanzar un amplio estudio para identificar el enfoque m\u00e1s beneficioso para el tratamiento dichas convulsiones.<\/li>\n<\/ul>\n\n\n\n

                <\/p>","protected":false},"excerpt":{"rendered":"

                La conferencia familiar bianual se celebr\u00f3 en Houston (Texas, EE.UU.) del 23 al 24 de septiembre de 2022, esta fue organizada por la Prof. Huda Zoghbi del Instituto de Investigaci\u00f3n […]<\/p>","protected":false},"author":2,"featured_media":13136,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[114],"tags":[],"class_list":["post-15080","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-noticias"],"yoast_head":"\nResumen de la conferencia familiar de 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\/en\/summary-of-the-american-conference-of-families-2022\/?lang=es\" \/>\n<meta property=\"og:locale\" content=\"en_GB\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Resumen de la conferencia familiar de 2022 - 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