{"id":15960,"date":"2022-10-01T20:29:21","date_gmt":"2022-10-01T20:29:21","guid":{"rendered":"https:\/\/dupmecp2.eu\/riassunto-della-conferenza-delle-famiglie-a-houston-2022\/"},"modified":"2023-04-17T15:31:25","modified_gmt":"2023-04-17T15:31:25","slug":"podsumowanie-konferencji-rodzin-w-houston-2022","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/pl\/podsumowanie-konferencji-rodzin-w-houston-2022\/","title":{"rendered":"Protok\u00f3\u0142 z konferencji rodzinnej w Houston, 2022 r."},"content":{"rendered":"<p>Konferencja biennale rodzin odbywa si\u0119 w Houston (Teksas, USA) w dniach 23-24 wrze\u015bnia 2022 roku. Zoghbi z Istituto di Ricerca Neurologico w Houston w Teksasie. Program by\u0142 bardzo intensywny i koncentrowa\u0142 si\u0119 na post\u0119pie naukowym zespo\u0142u. <\/p>\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 e Prof. Huda Zoghbi<\/figcaption><\/figure>\n\n<p>W wydarzeniu wzi\u0105\u0142 udzia\u0142 David Covini, wiceprezes stowarzyszenia \"Les petits Mec P2\", prezes austriackiego stowarzyszenia \"Lasst uns MDS heilen\" oraz cz\u0142onek komitetu naukowego tych dw\u00f3ch stowarzysze\u0144. Ha incontrato le altre famiglie, i membri delle associazioni americane e i ricercatori.<\/p>\n\n<p>David spotka\u0142 si\u0119 r\u00f3wnie\u017c z profesor Zoghbi i jej zespo\u0142em. Na tym spotkaniu om\u00f3wili\u015bmy post\u0119py bie\u017c\u0105cych projekt\u00f3w w celu zidentyfikowania aspekt\u00f3w, kt\u00f3re wymagaj\u0105 wsparcia i wk\u0142adu stowarzyszenia.<\/p>\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\">Da sinistra a destra MD Pehlivan, Prof.ssa Zoghbi, David, Ak Muharrem, MD Suter<\/figcaption><\/figure>\n\n<p><\/p>\n\n<p>Prof. ssa Huda Zoghbi, dr Davut Pehlivan i dr Bernhard Suter podsumowali dla nas kluczowe punkty, kt\u00f3re pojawi\u0142y si\u0119 podczas konferencji:<\/p>\n\n<ul class=\"wp-block-list\">\n<li>Ionis Pharmaceuticals planuje rozpocz\u0105\u0107 badanie monitoruj\u0105ce naturaln\u0105 ewolucj\u0119 choroby MDS w 2023 roku. Badanie to b\u0119dzie prowadzone w Stanach Zjednoczonych i obejmie oko\u0142o 40 os\u00f3b cierpi\u0105cych na MDS. To studio b\u0119dzie przeprowadza\u0107 wizyty tymczasowe w pierwszym roku, a nast\u0119pnie wizyty semestralne w drugim roku. Ionis zamierza rozpocz\u0105\u0107 wsp\u00f3\u0142prac\u0119 z FDA w 2023 roku. Nie dotyczy to jednak prawdziwego i w\u0142asnego wniosku o zatwierdzenie IND (Investitional New Drug application). Przysz\u0142e zmiany zostan\u0105 wprowadzone przez Ionis Pharmaceuticals.<\/li>\n<\/ul>\n\n<ul class=\"wp-block-list\">\n<li>Dr Davut Pehlivan i Sameer Bajikar podsumowali badania genomiczne. Badania te wykaza\u0142y istnienie r\u00f3\u017cnych typ\u00f3w duplikacji (np. semplice, complessa i triplicazione). Pomiar poziomu bia\u0142ka MeCP2 okre\u015bla dawki ASO (Antisense Oligonucleotide). Dost\u0119p do tego badania jest mo\u017cliwy z dowolnego miejsca na \u015bwiecie.<\/li>\n<\/ul>\n\n<ul class=\"wp-block-list\">\n<li>Dr Mirjana Maletic-Savatic m\u00f3wi\u0142a o badaniach biomarker\u00f3w. Trwaj\u0105 badania maj\u0105ce na celu identyfikacj\u0119 biomarker\u00f3w. Niekt\u00f3re z nich wydaj\u0105 si\u0119 by\u0107 w stanie odr\u00f3\u017cni\u0107 MDS, Retta od os\u00f3b zdrowych. Naszym celem jest ograniczenie listy kandydat\u00f3w na biomarkery, aby zidentyfikowa\u0107 jeden lub dwa bardzo wiarygodne biomarkery, kt\u00f3re mog\u0105 dostarczy\u0107 informacji na temat ci\u0119\u017cko\u015bci choroby i odpowiedzi na ASO.<\/li>\n<\/ul>\n\n<ul class=\"wp-block-list\">\n<li>Dr.ssa. Sarika Peters i Jeff Neul m\u00f3wili o post\u0119pach w mierzeniu wynik\u00f3w bada\u0144 klinicznych. W ten spos\u00f3b opracowano wieloo\u015brodkow\u0105 skal\u0119 kliniczn\u0105, kt\u00f3r\u0105 mo\u017cna nast\u0119pnie wykorzysta\u0107 w kolejnym studiu klinicznym.<\/li>\n<\/ul>\n\n<ul class=\"wp-block-list\">\n<li>Dr Zhenya Ivakine zaprezentowa\u0142 nowy model topo, kt\u00f3ry zawiera zar\u00f3wno MECP2, jak i IRAK1, a jego celem jest stworzenie lepszego zwierz\u0119cego modelu do badania MDS. Ha anche fornito un aggiornamento sull'editing del genoma basato su CRISPR\/Cas9 nella Sindrome da Duplicazione di MECP2. Chocia\u017c wyniki s\u0105 obiecuj\u0105ce, przed przej\u015bciem do bada\u0144 na ludziach konieczne b\u0119d\u0105 dalsze badania laboratoryjne.<\/li>\n<\/ul>\n\n<ul class=\"wp-block-list\">\n<li>Dr Ashley Anderson przedstawi\u0142 wyniki bada\u0144 przesiewowych maj\u0105cych na celu znalezienie nowych regulator\u00f3w MeCP2. Wprowadzenie tych regulator\u00f3w mo\u017ce prowadzi\u0107 do nowych metod leczenia tej choroby. Tuttavia questi studi sono nel loro stadio iniziale e necessiteranno di ulteriore lavoro.<\/li>\n<\/ul>\n\n<ul class=\"wp-block-list\">\n<li>Eksperci kliniczni m\u00f3wili r\u00f3wnie\u017c o powszechnych problemach (np. problemach \u017co\u0142\u0105dkowo-jelitowych, padaczce, cz\u0119stych infekcjach) u pacjent\u00f3w z duplikacj\u0105. Bior\u0105c pod uwag\u0119, \u017ce padaczka jest g\u0142\u00f3wnym problemem powoduj\u0105cym regresj\u0119 pacjent\u00f3w i \u017ce nie ma jasnych wytycznych dotycz\u0105cych leczenia kryzys\u00f3w, zamierzaj\u0105 oni rozpocz\u0105\u0107 szeroko zakrojone badanie.<\/li>\n<\/ul>\n\n<p><\/p>","protected":false},"excerpt":{"rendered":"<p>La conferenza biennale delle famiglie si e\u2019 tenuta a Houston (Texas, USA) dal 23 al 24 settembbre 2022. E\u2019 stata organizzata dal Prof. Zoghbi dell\u2019Istitituto di Ricerca Neurologico di Houston, [&hellip;]<\/p>","protected":false},"author":2,"featured_media":13135,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[137],"tags":[],"class_list":["post-15960","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-notizie"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Riassunto della conferenza delle famiglie a Houston, 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\/podsumowanie-konferencji-rodzin-w-houston-2022\/?lang=it\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Riassunto della conferenza delle famiglie a Houston, 2022 - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"La conferenza biennale delle famiglie si e\u2019 tenuta a Houston (Texas, USA) dal 23 al 24 settembbre 2022. 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