{"id":2412,"date":"2015-01-28T15:52:14","date_gmt":"2015-01-28T22:52:14","guid":{"rendered":"http:\/\/lw.screammedia.net\/?p=2412"},"modified":"2023-12-20T02:46:51","modified_gmt":"2023-12-20T07:46:51","slug":"emilys-entourage-symposium-on-nonsense-cystic-fibrosis-mutations","status":"publish","type":"post","link":"https:\/\/www.emilysentourage.org\/tr\/emilys-entourage-symposium-on-nonsense-cystic-fibrosis-mutations\/","title":{"rendered":"Emily's Entourage Nonsense Kistik Fibrozis Mutasyonlar\u0131 Sempozyumu"},"content":{"rendered":"

Emily's Entourage, 21 Ocak'ta Kistik Fibrozis'in nonsense mutasyonlar\u0131na y\u00f6nelik ara\u015ft\u0131rmalar\u0131 h\u0131zland\u0131rmak amac\u0131yla, Emily's Entourage ile ortakla\u015fa bir bilimsel sempozyuma ev sahipli\u011fi yapt\u0131. Penn Medicine'\u0131n Yetim Hastal\u0131k Merkezi<\/a>. Etkinlik, \u00f6nceki ak\u015fam d\u00fczenlenen \u015fenlikli bir ak\u015fam yeme\u011fi ve kokteyl partisiyle ba\u015flad\u0131.<\/p>\n

\"SHS_7463\"Sempozyumda, biyoteknoloji, akademi, ila\u00e7 ve KF Vakf\u0131'ndan d\u00fcnyan\u0131n en iyi KF beyinleri, \u00e7al\u0131\u015fmalar\u0131n\u0131 payla\u015fmak ve Emily gibi nonsense KF mutasyonlar\u0131na sahip olanlar i\u00e7in yeni tedavilerin ke\u015ffini te\u015fvik etmek i\u00e7in yeni i\u015fbirlikleri ve bir eylem plan\u0131 olu\u015fturmak \u00fczere ilk kez bir araya geldi. Emily'nin mutasyonunun gizeminin \u00e7\u00f6z\u00fclmesi sadece di\u011fer sa\u00e7ma KF mutasyonlar\u0131na de\u011fil, ayn\u0131 zamanda sa\u00e7ma mutasyonlar\u0131n neden oldu\u011fu t\u00fcm genetik hastal\u0131klar\u0131n \u00fc\u00e7te birine de \u0131\u015f\u0131k tutabilir.<\/p>\n

Sempozyum, Ba\u015fkan Obama'n\u0131n \"hassas t\u0131p\" duyurusu ve \u00f6nceki gece Birli\u011fin Durumu konu\u015fmas\u0131nda First Lady Michelle Obama'ya kat\u0131lan KF'li ki\u015fi \u0131\u015f\u0131\u011f\u0131nda \u00f6zellikle zamanl\u0131yd\u0131. Sonu\u00e7ta sempozyum, hassas t\u0131bb\u0131n i\u015f ba\u015f\u0131ndaki \u00f6z\u00fcyd\u00fc.<\/p>\n

G\u00fcn boyunca sunum yapanlar, Emily'nin W1282X (A\u015fkenaz Yahudisi) mutasyonuna odaklanarak sa\u00e7ma mutasyonlar\u0131 her a\u00e7\u0131dan tart\u0131\u015ft\u0131lar. Ger\u00e7ek bir i\u015fbirli\u011fi ruhu ve Emily's Entourage'\u0131n misyonunu ilerletme kararl\u0131l\u0131\u011f\u0131 i\u00e7inde en g\u00fcncel ve genellikle hen\u00fcz yay\u0131nlanmam\u0131\u015f ara\u015ft\u0131rma bulgular\u0131n\u0131 payla\u015ft\u0131lar.<\/p>\n

\"SHS_7404\"A\u00e7\u0131l\u0131\u015f konu\u015fmalar\u0131, sempozyumun ortak ev sahipleri Yetim Hastal\u0131klar Merkezi Direkt\u00f6r\u00fc Dr. Jim Wilson, kendi Emily'miz ve Penn Perelman T\u0131p Fak\u00fcltesi Fizyoloji Ba\u015fkan\u0131 Dr. Kevin Foskett taraf\u0131ndan yap\u0131ld\u0131 ve ard\u0131ndan etkileyici bir sunumcu kadrosu geldi:<\/p>\n

1. David Bedwell, PhD (Birmingham'daki Alabama \u00dcniversitesi)
\n2. Lynne Maquat, PhD (Rochester \u00dcniversitesi RNA Biyolojisi Merkezi Direkt\u00f6r\u00fc)
\n3. Batsheva Kerem, PhD (Kud\u00fcs \u0130brani \u00dcniversitesi)
\n4. Steven Rowe, MD, MSPH (KF Vakf\u0131 Terap\u00f6tik Geli\u015ftirme A\u011f\u0131 Merkez Direkt\u00f6r\u00fc, KF Ge\u00e7i\u015f Klini\u011fi Direkt\u00f6r\u00fc, Alabama \u00dcniversitesi)
\n5. Gergely Lukacs, MD, PhD (McGill \u00dcniversitesi KF Translasyonel Ara\u015ft\u0131rma Merkezi)
\n6. Walter Finkbeiner, MD, PhD (University of California San Francisco)
\n7. Alan Verkman, MD, PhD (University of California San Francisco)
\n8. H. Lee Sweeney, PhD (Pennsylvania \u00dcniversitesi Perelman T\u0131p Fak\u00fcltesi)
\n9. Ellen Welch, PhD (Biyoloji\/Genetik Bozukluklar Ba\u015fkan Yard\u0131mc\u0131s\u0131, PTC Therapeutics)
\n10. Paul Negulescu, PhD (Ara\u015ft\u0131rma Ba\u015fkan Yard\u0131mc\u0131s\u0131, Vertex Pharmaceuticals)
\n11. William Skach, MD (Ara\u015ft\u0131rma \u0130\u015fleri Ba\u015fkan Yard\u0131mc\u0131s\u0131, CF Foundation Therapeutics)<\/p>\n

Vertex ve PTC'nin yan\u0131 s\u0131ra Pfizer, Sanofi, GlaxoSmithKline, N30 Pharmaceuticals ve Deloitte Global Ya\u015fam Bilimleri Sekt\u00f6r\u00fc'nden sekt\u00f6r temsilcileri de kat\u0131ld\u0131.<\/p>\n

Konu\u015fmac\u0131lar ve kat\u0131l\u0131mc\u0131lar, isimlerini uzun zamand\u0131r bilimsel dergilerde g\u00f6rd\u00fckleri sayg\u0131n meslekta\u015flar\u0131yla tan\u0131\u015fmaktan duyduklar\u0131 memnuniyeti payla\u015ft\u0131lar. Hepsinden \u00f6nemlisi, sempozyumun benzersiz, y\u00fcksek hedefli oda\u011f\u0131 hakk\u0131ndaki heyecanlar\u0131n\u0131 payla\u015ft\u0131lar ve Emily ile ki\u015fisel olarak tan\u0131\u015fman\u0131n ve g\u00fcnl\u00fck \u00e7al\u0131\u015fmalar\u0131na bir y\u00fcz ve hikaye koyman\u0131n ne kadar motive edici oldu\u011funu yorumlad\u0131lar.<\/p>\n

Emily'nin annesi ve EE kurucu orta\u011f\u0131 Liza Kramer, \"Odadaki dostluktan \u00e7ok etkilendim,\" dedi. \"\u00c7ok fazla heyecan, \u00e7ok fazla umut vard\u0131. Her sunucu konu\u015furken t\u00fcm farkl\u0131 bilim insanlar\u0131n\u0131n kafalar\u0131n\u0131n d\u00f6nd\u00fc\u011f\u00fcn\u00fc g\u00f6rebiliyordunuz. G\u00f6zlerimizin \u00f6n\u00fcnde yeni fikirler ve yeni i\u015fbirlikleri olu\u015fuyordu ve bunu g\u00f6rmek \u00e7ok heyecan verici ve umut vericiydi.\"<\/p>\n

Sempozyumun sonunda Dr. Foskett, g\u00fcn\u00fcn sunum ve tart\u0131\u015fmalar\u0131na dayanarak koordineli bir eylem plan\u0131 olu\u015fturma s\u00f6z\u00fc verdi ve kat\u0131l\u0131mc\u0131lardan h\u0131zl\u0131 ve i\u015fbirlik\u00e7i bir uygulama taahh\u00fcd\u00fc istedi.<\/p>\n

\"SHS_7138\"Emily her \u015feyi \u00e7ok g\u00fczel \u00f6zetledi: \"Bu sempozyumdan kesinlikle \u00e7ok g\u00fc\u00e7lenmi\u015f hissediyorum. Bunlar \u015fimdiye kadar tan\u0131\u015ft\u0131\u011f\u0131m en zeki insanlar ve hastal\u0131\u011f\u0131m\u0131z \u00fczerinde \u00e7al\u0131\u015f\u0131yor olmalar\u0131 b\u00fcy\u00fck bir ayr\u0131cal\u0131k ve bana \u00e7ok fazla umut veriyor. Sa\u00e7ma sapan KF mutasyon paradigmas\u0131n\u0131 \u00e7\u00f6zebilecek biri varsa, onun onlar oldu\u011funa ve Emily's Entourage'\u0131n bu noktaya (s\u00fcper) insani olarak m\u00fcmk\u00fcn olan en k\u0131sa s\u00fcrede ula\u015fmalar\u0131na yard\u0131mc\u0131 olmak i\u00e7in ne gerekiyorsa yapaca\u011f\u0131na kesinlikle inan\u0131yorum. Bunu birlikte ba\u015farabiliriz!\"<\/p>\n

Amin. Ve birlikte yapaca\u011f\u0131z!<\/p>\n

Emily's Entourage'daki herkes ad\u0131na Penn Yetim Hastal\u0131klar\u0131 Merkezi'ne, harika konu\u015fmac\u0131lara, kat\u0131l\u0131mc\u0131lara ve en \u00f6nemlisi korkusuz sempozyum liderimiz Dr. Kevin Foskett'e en i\u00e7ten te\u015fekk\u00fcrlerimizi sunmak istiyoruz.<\/p>\n

Etkinlikten foto\u011fraflar\u0131 g\u00f6r\u00fcnt\u00fcleyin<\/a><\/p>\n

Daha fazla bilgi edinmek veya dahil olmak istiyorsan\u0131z, l\u00fctfen a\u015fa\u011f\u0131daki formu doldurarak bizimle ileti\u015fime ge\u00e7in \u0130leti\u015fim Formu<\/a>.<\/em><\/p>","protected":false},"excerpt":{"rendered":"

Emily's Entourage, 21 Ocak'ta Penn Medicine Yetim Hastal\u0131klar Merkezi ile ortakla\u015fa olarak Kistik Fibrozis'in sa\u00e7ma mutasyonlar\u0131na y\u00f6nelik ara\u015ft\u0131rmalar\u0131 h\u0131zland\u0131rmak amac\u0131yla bilimsel bir sempozyuma ev sahipli\u011fi yapt\u0131. Etkinlik, \u00f6nceki ak\u015fam d\u00fczenlenen \u015fenlikli bir ak\u015fam yeme\u011fi ve kokteyl partisiyle ba\u015flad\u0131. Sempozyumda, biyoteknoloji, akademi, ila\u00e7 ve KF end\u00fcstrisinden d\u00fcnyan\u0131n en iyi KF beyinleri... <\/p>\n

<\/div>\n

Daha fazla bilgi edinin<\/a><\/p>","protected":false},"author":58,"featured_media":2460,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_seopress_titles_title":"","_seopress_titles_desc":"","_seopress_robots_index":"","_seopress_robots_follow":"","_seopress_robots_imageindex":"","_seopress_robots_snippet":"","_seopress_robots_primary_cat":"","_seopress_robots_breadcrumbs":"","_seopress_robots_freeze_modified_date":"","_seopress_robots_custom_modified_date":"","_seopress_robots_canonical":"","_seopress_social_fb_title":"","_seopress_social_fb_desc":"","_seopress_social_fb_img":"","_seopress_social_fb_img_attachment_id":0,"_seopress_social_fb_img_width":0,"_seopress_social_fb_img_height":0,"_seopress_social_twitter_title":"","_seopress_social_twitter_desc":"","_seopress_social_twitter_img":"","_seopress_social_twitter_img_attachment_id":0,"_seopress_social_twitter_img_width":0,"_seopress_social_twitter_img_height":0,"_seopress_redirections_value":"","_seopress_redirections_enabled":"","_seopress_redirections_enabled_regex":"","_seopress_redirections_logged_status":"","_seopress_redirections_param":"","_seopress_redirections_type":0,"_seopress_analysis_target_kw":"","_seopress_news_disabled":"","_seopress_video_disabled":"","_seopress_video":[],"_seopress_pro_schemas_manual":[],"_seopress_pro_rich_snippets_disable_all":"","_seopress_pro_rich_snippets_disable":[],"_seopress_pro_schemas":[],"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_feature_clip_id":0,"_jetpack_memberships_contains_paid_content":false,"footnotes":"","jetpack_post_was_ever_published":false},"categories":[1,6],"tags":[],"class_list":["post-2412","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized","category-emilys-entourage-blog"],"acf":[],"jetpack_featured_media_url":"https:\/\/www.emilysentourage.org\/wp-content\/uploads\/SHS_7463.jpg","jetpack_sharing_enabled":true,"post_mailing_queue_ids":[],"_links":{"self":[{"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts\/2412","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/users\/58"}],"replies":[{"embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/comments?post=2412"}],"version-history":[{"count":5,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts\/2412\/revisions"}],"predecessor-version":[{"id":20343,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts\/2412\/revisions\/20343"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/media\/2460"}],"wp:attachment":[{"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/media?parent=2412"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/categories?post=2412"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/tags?post=2412"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}