{"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":"konferencja-dla-rodzin-2022","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/pl\/konferencja-dla-rodzin-2022\/","title":{"rendered":"Podsumowanie Ameryka\u0144skiej Konferencji Rodzin 2022"},"content":{"rendered":"<p class=\"wp-block-paragraph\">W dniach 23\u201324 wrze\u015bnia 2022 r. w Houston (Teksas, USA) odby\u0142a si\u0119 odbywaj\u0105ca si\u0119 co dwa lata konferencja rodzin. Jej organizatorem by\u0142a prof. Huda Zoghbi z Instytutu Bada\u0144 Neurologicznych (NRI, Houston, Teksas). Program by\u0142 bardzo bogaty i obejmowa\u0142 prezentacje dotycz\u0105ce najnowszych osi\u0105gni\u0119\u0107 naukowych w zakresie tego 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 i prof. Huda Zoghbi<\/figcaption><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">David Covini, wiceprezes francuskiego stowarzyszenia \u201eLes petits Mec P2\u201d, prezes austriackiego stowarzyszenia \u201eLasst uns MDs heilen\u201d oraz cz\u0142onek komisji naukowych obu stowarzysze\u0144, uda\u0142 si\u0119 na miejsce. Spotka\u0142 si\u0119 z obecnymi tam rodzinami, aktywnymi cz\u0142onkami stowarzysze\u0144 ameryka\u0144skich oraz naukowcami.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Nast\u0119pnie David spotka\u0142 si\u0119 z prof. Hud\u0105 Zoghbi i jej zespo\u0142em. Spotkanie to pozwoli\u0142o na bardziej szczeg\u00f3\u0142owe om\u00f3wienie post\u0119p\u00f3w w realizacji projekt\u00f3w oraz okre\u015blenie dzia\u0142a\u0144 wymagaj\u0105cych naszego wsparcia 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\">Od lewej do prawej: dr Pehlivan, prof. Zoghbi, David, Ak Muharrem, dr Suter<\/figcaption><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Prof. Huda Zoghbi, dr Davut Pehlivan i dr Bernhard Suter podsumowali nast\u0119pnie dla nas najwa\u017cniejsze punkty konferencji:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Firma Ionis Pharmaceuticals zamierza w 2023 roku rozpocz\u0105\u0107 badanie obserwacyjne, aby uzyska\u0107 wi\u0119cej informacji na temat naturalnego przebiegu choroby. Badanie dotycz\u0105ce naturalnego przebiegu choroby (NHS) ma zosta\u0107 przeprowadzone w Stanach Zjednoczonych, a liczba uczestnik\u00f3w zostanie ograniczona do oko\u0142o 40 os\u00f3b z duplikacj\u0105 genu MECP2. Przewiduje si\u0119, \u017ce badanie przebiegu naturalnej historii choroby b\u0119dzie obejmowa\u0142o wizyty co kwarta\u0142 w pierwszym roku, a nast\u0119pnie co p\u00f3\u0142 roku w drugim roku badania. Firma Ionis Pharmaceuticals zamierza nawi\u0105za\u0107 wsp\u00f3\u0142prac\u0119 z ameryka\u0144sk\u0105 agencj\u0105 ds. lek\u00f3w (FDA) w 2023 roku. Nale\u017cy jednak podkre\u015bli\u0107, \u017ce jest to proces odr\u0119bny od z\u0142o\u017cenia wniosku o dopuszczenie do bada\u0144 klinicznych (IND \u2013 Investigational New Drug Application) lub zatwierdzenia nowego leku.<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Dr Davut Pehlivan i dr Sameer Bajikar om\u00f3wili badania genomiczne. Badania genomiczne wci\u0105\u017c pokazuj\u0105, \u017ce r\u00f3\u017cne rodzaje duplikacji (tj. pojedyncze, z\u0142o\u017cone i potr\u00f3jne) oraz zmierzone poziomy bia\u0142ka MeCP2 b\u0119d\u0105 decydowa\u0107 o dawce ASO (oligonukleotyd\u00f3w antysensownych), jak\u0105 nale\u017cy poda\u0107. Trwa rekrutacja do bada\u0144 genetycznych, w kt\u00f3rych mog\u0105 wzi\u0105\u0107 udzia\u0142 osoby z ca\u0142ego \u015bwiata.<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Dr Mirjana Maletic-Savatic om\u00f3wi\u0142a badania nad biomarkerami. Trwaj\u0105 badania maj\u0105ce na celu odkrycie nowych biomarker\u00f3w. Zidentyfikowano ju\u017c kilka biomarker\u00f3w pozwalaj\u0105cych na odr\u00f3\u017cnienie zespo\u0142u duplikacji, zespo\u0142u Retta od os\u00f3b zdrowych. Obecnie celem jest zaw\u0119\u017cenie listy biomarker\u00f3w w oparciu o badanie przebiegu choroby (NHS) oraz zidentyfikowanie jednego lub dw\u00f3ch silnych biomarker\u00f3w, kt\u00f3re mog\u0142yby odzwierciedla\u0107 stopie\u0144 zaawansowania choroby oraz odpowied\u017a na leczenie za pomoc\u0105 ASO.<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Dr Sarika Peters i dr Jeff Neul om\u00f3wili post\u0119py w zakresie pomiaru wynik\u00f3w. Podj\u0119te zostan\u0105 dzia\u0142ania maj\u0105ce na celu opracowanie wieloo\u015brodkowej skali oceny klinicznej, kt\u00f3ra zostanie wykorzystana w przysz\u0142ym badaniu klinicznym.<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Dr Zhenya Ivakine zaprezentowa\u0142 nowy model myszy, w kt\u00f3rym ekspresja gen\u00f3w MECP2 i IRAK1 wyst\u0119puje jednocze\u015bnie, co ma na celu stworzenie lepszego modelu zwierz\u0119cego do bada\u0144 nad tym zespo\u0142em. Przedstawi\u0142 r\u00f3wnie\u017c aktualny stan wiedzy na temat edycji genomu z wykorzystaniem CRISPR\/Cas9 w przypadkach duplikacji genu MECP2. Chocia\u017c wyniki s\u0105 obiecuj\u0105ce, przed przej\u015bciem do bada\u0144 na ludziach konieczne s\u0105 dalsze badania laboratoryjne.<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Dr Ashley Anderson przedstawi\u0142a wst\u0119pne wyniki bada\u0144 przesiewowych maj\u0105cych na celu zidentyfikowanie regulator\u00f3w MeCP2. Hamowanie dzia\u0142ania tych regulator\u00f3w mog\u0142oby doprowadzi\u0107 do opracowania nowych metod leczenia, jednak badania te znajduj\u0105 si\u0119 na wczesnym etapie i wymagaj\u0105 dalszej analizy, zanim b\u0119dzie mo\u017cna przej\u015b\u0107 do bada\u0144 na ludziach.<\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Eksperci kliniczni poruszyli r\u00f3wnie\u017c kwesti\u0119 typowych problem\u00f3w zdrowotnych (np. zaburze\u0144 \u017co\u0142\u0105dkowo-jelitowych, padaczki, cz\u0119stych infekcji) wyst\u0119puj\u0105cych u os\u00f3b z duplikacj\u0105. Bior\u0105c pod uwag\u0119, \u017ce padaczka jest g\u0142\u00f3wnym problemem powoduj\u0105cym regresj\u0119 u pacjent\u00f3w, a nie ma jasnych wytycznych dotycz\u0105cych lek\u00f3w przeciwpadaczkowych, planuj\u0105 oni przeprowadzi\u0107 szeroko zakrojone badanie.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><\/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\/pl\/konferencja-dla-rodzin-2022\/\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\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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