{"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":"podsumowanie-amerykanskiej-konferencji-rodzin-2022","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/pl\/podsumowanie-amerykanskiej-konferencji-rodzin-2022\/","title":{"rendered":"Podsumowanie konferencji familiarnej w 2022 r."},"content":{"rendered":"<p>Konferencja odbywaj\u0105ca si\u0119 co dwa lata w Houston (Teksas, USA) w dniach 23-24 wrze\u015bnia 2022 r. zosta\u0142a zorganizowana przez prof. Huda Zoghbi z Instituto de Investigaci\u00f3n Neurol\u00f3gica (NRI, Houston, Teksas). Program by\u0142 bardzo bogaty i obejmowa\u0142 prezentacje osi\u0105gni\u0119\u0107 naukowych dotycz\u0105cych zespo\u0142u. <\/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 Profesor Huda Zoghbi<\/figcaption><\/figure>\n\n\n\n<p>David Covini, wiceprezes francuskiego stowarzyszenia \"Les petits Mec P2\", prezes austriackiego stowarzyszenia \"Lasst uns MDS heilen\" i cz\u0142onek komisji naukowych obu organizacji pozarz\u0105dowych, uczestniczy\u0142 w tym wydarzeniu, rozmawiaj\u0105c z rodzinami uczestnik\u00f3w, cz\u0142onkami ameryka\u0144skich stowarzysze\u0144 i badaczami.<\/p>\n\n\n\n<p>David zosta\u0142 powitany przez prof. Hud\u0119 Zoghbi i jej zesp\u00f3\u0142, a spotkanie to umo\u017cliwi\u0142o im bardziej szczeg\u00f3\u0142owe om\u00f3wienie ewolucji projekt\u00f3w i okre\u015blenie dzia\u0142a\u0144, kt\u00f3re wymagaj\u0105 naszej pomocy i wk\u0142adu.<\/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\">Foto de izquierda a derecha (MD Pehlivan, Pr. Zoghbi, David, Ak Muharrem, MD Suter<\/figcaption><\/figure>\n\n\n\n<p><\/p>\n\n\n\n<p>Prof. Huda Zoghbi, dr Davut Pehlivan i dr Bernhard Suter podsumowali najwa\u017cniejsze punkty konferencji:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Ionis Pharmaceuticals zamierza rozpocz\u0105\u0107 badanie obserwacyjne lub badanie historii naturalnej, aby dowiedzie\u0107 si\u0119 wi\u0119cej o naturalnym przebiegu zespo\u0142u duplikacji MECP2 (MDS) w 2023 roku. Oczekuje si\u0119, \u017ce badanie historii naturalnej zostanie przeprowadzone w Stanach Zjednoczonych, a jego zakres zostanie ograniczony do oko\u0142o 40 os\u00f3b z MDS. Przewiduje si\u0119, \u017ce badanie historii naturalnej b\u0119dzie obejmowa\u0107 wizyty okresowe w ci\u0105gu pierwszego roku, a nast\u0119pnie wizyty okresowe w ci\u0105gu drugiego roku. Ionis Pharmaceuticals spodziewa si\u0119 interakcji z FDA w 2023 r., ale nale\u017cy zauwa\u017cy\u0107, \u017ce r\u00f3\u017cni si\u0119 to od prezentacji lub zatwierdzenia wniosku IND (Investigational New Drug Application).<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Lekarze Davut Pehlivan i Sameer Bajikar m\u00f3wili o badaniach genomicznych, kt\u00f3re nadal ujawniaj\u0105, \u017ce r\u00f3\u017cne rodzaje duplikacji (tj. prosta - ca\u0142kowita - triplikacja) i leki na poziomie bia\u0142ka MeCP2 b\u0119d\u0105 wspiera\u0107 dawkowanie ASO (Antisentitial Oligonucleotide). Reklasyfikacja do bada\u0144 genetycznych jest w toku i mo\u017ce by\u0107 przeprowadzona z dowolnego miejsca na \u015bwiecie.<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Dra. Mirjana Maletic-Savatic m\u00f3wi\u0142a o badaniach biomarker\u00f3w. Badania nad odkrywaniem biomarker\u00f3w robi\u0105 du\u017ce post\u0119py i mamy szereg kandydat\u00f3w na biomarkery, kt\u00f3re r\u00f3\u017cni\u0105 si\u0119 mi\u0119dzy MDS, Rett i zdrowymi osobami. 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<ul class=\"wp-block-list\">\n<li>Lekarze Sarika Peters i Jeff Neul rozmawiali o rozwoju metod pomiaru wynik\u00f3w. Przeprowadzono wieloo\u015brodkowe badanie skali impresji klinicznej, kt\u00f3rego celem by\u0142o wykorzystanie tej skali w kolejnym badaniu klinicznym.<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Dr Zhenya Ivakine poinformowa\u0142a o opracowanym niedawno modelu szczur\u00f3w, w kt\u00f3rym wyst\u0119puje zar\u00f3wno MECP2, jak i IRAK1, w celu ulepszenia modelu zwierz\u0119cego wykorzystywanego w badaniach nad MDS. El tambi\u00e9n present\u00f3 actualizaci\u00f3n sobre la CRISPR\/Cas9 edici\u00f3n del genoma basada en MDS. Chocia\u017c wyniki s\u0105 pozytywne, konieczne s\u0105 dalsze badania laboratoryjne przed przyst\u0105pieniem do bada\u0144 na ludziach.<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>La Dra. Ashley Anderson przedstawi\u0142a wst\u0119pne wyniki badania maj\u0105cego na celu znalezienie regulator\u00f3w MECP2. Zahamowanie tych regulator\u00f3w mo\u017ce prowadzi\u0107 do nowych metod leczenia, ale badania te s\u0105 na pocz\u0105tkowym etapie i wymagaj\u0105 dalszych prac.<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Eksperci kliniczni powiedzieli nam r\u00f3wnie\u017c o powszechnych problemach (\u017co\u0142\u0105dkowo-jelitowych, padaczce, cz\u0119stych infekcjach itp.) w MDS. Bior\u0105c pod uwag\u0119, \u017ce padaczka jest g\u0142\u00f3wnym problemem powoduj\u0105cym nawroty w MDS i nie istnieje jasna orientacja dotycz\u0105ca lek\u00f3w przeciwdrgawkowych, planujemy przeprowadzenie szeroko zakrojonego badania w celu okre\u015blenia najbardziej korzystnego podej\u015bcia do leczenia tych drgawek.<\/li>\n<\/ul>\n\n\n\n<p><\/p>","protected":false},"excerpt":{"rendered":"<p>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 [&hellip;]<\/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":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - 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