{"id":4381,"date":"2016-03-02T09:25:16","date_gmt":"2016-03-02T14:25:16","guid":{"rendered":"https:\/\/www.emilysentourage.org\/?p=4381"},"modified":"2023-12-20T04:46:08","modified_gmt":"2023-12-20T09:46:08","slug":"emily-speaks-at-vertex-pharmaceuticals-for-rare-disease-week","status":"publish","type":"post","link":"https:\/\/www.emilysentourage.org\/tr\/emily-speaks-at-vertex-pharmaceuticals-for-rare-disease-week\/","title":{"rendered":"Emily, Vertex Pharmaceuticals'ta Nadir Hastal\u0131klar Haftas\u0131 i\u00e7in Konu\u015ftu"},"content":{"rendered":"

Nadir Hastal\u0131klar Haftas\u0131 i\u00e7in Emily, Emily's Entourage'\u0131n mesaj\u0131n\u0131 Boston, Massachusetts'teki Vertex Pharmaceuticals'a g\u00f6t\u00fcrecek. Nadir bir hastal\u0131\u011f\u0131n nadir mutasyonuna sahip bir hasta olarak hikayesini, ara\u015ft\u0131rmalar\u0131 te\u015fvik etmek ve nadir mutasyonlara sahip olanlar da dahil olmak \u00fczere KF'li herkes i\u00e7in h\u0131zl\u0131 bir \u015fekilde ila\u00e7 geli\u015ftirmeye y\u00f6nelik g\u00fc\u00e7l\u00fc bir taahh\u00fctte bulunmak i\u00e7in kullanacak.<\/p>\n

\"Emily

Emily Boston'daki Vertex genel merkezine geldi<\/p><\/div>\n

Amerika Birle\u015fik Devletleri'nde bir hastal\u0131k ayn\u0131 anda 200.000'den az ki\u015fiyi etkiliyorsa nadir olarak kabul edilir - Kistik Fibrozis (KF) d\u00fcnya \u00e7ap\u0131nda 70.000, Amerika Birle\u015fik Devletleri'nde ise 30.000 ki\u015fiyi etkilemektedir. KF'nin ayn\u0131 nadir mutasyonunun iki kopyas\u0131na sahip olan Emily, nadir bulunanlar aras\u0131nda yer almaktad\u0131r.<\/p>\n

Emily konu\u015fmas\u0131yla Vertex'in KF toplulu\u011fu i\u00e7in yeni bulu\u015flar bulma \u00e7abas\u0131n\u0131 h\u0131zland\u0131rmay\u0131 ve canland\u0131rmay\u0131 umuyor. Bu, Vertex'in kendisini \u00f6n planda buldu\u011fu bir \u00e7abad\u0131r.<\/p>\n

\"Emily

Emily, San Diego'daki laboratuvarlar\u0131nda tan\u0131\u015ft\u0131\u011f\u0131 Vertex bilim insanlar\u0131ndan baz\u0131lar\u0131yla bir selfie \u00e7ekti.<\/p><\/div>\n

Ge\u00e7ti\u011fimiz birka\u00e7 y\u0131l i\u00e7inde Vertex, \u00f6nceki t\u00fcm tedavilerin yapt\u0131\u011f\u0131 gibi semptomlar\u0131 hafifletmek yerine KF'nin alt\u0131nda yatan nedeni tedavi eden ilk terap\u00f6tikleri geli\u015ftirdi. 2012 y\u0131l\u0131nda, belirli bir genetik mutasyona sahip KF pop\u00fclasyonunun 4%'si i\u00e7in Kalydeco'yu piyasaya s\u00fcrd\u00fcler. Ad\u0131 Forbes'un ilk y\u0131ll\u0131k \u00c7\u0131\u011f\u0131r A\u00e7an \u0130lac\u0131<\/a>Kalydeco, insanlar\u0131 nakil listelerinden \u00e7\u0131karan, maraton ko\u015fmalar\u0131na, aile kurmalar\u0131na ve KF taraf\u0131ndan dikte edilmeyen bir gelece\u011fin hayalini kurmalar\u0131na izin veren bir oyun de\u011fi\u015ftiriciydi. Bunu, ge\u00e7ti\u011fimiz yaz en yayg\u0131n KF mutasyonunu ele alan yeni bir kombinasyon tedavisi olan Orkambi'nin piyasaya s\u00fcr\u00fclmesi izledi.<\/p>\n

Bu ila\u00e7lar birlikte ABD'deki KF n\u00fcfusunun yakla\u015f\u0131k \u00fc\u00e7te birine fayda sa\u011flamaktad\u0131r. Ne yaz\u0131k ki, Emily gibi sa\u00e7ma KF mutasyonlar\u0131na sahip olanlar da dahil olmak \u00fczere bir\u00e7ok nadir KF formuna sahip ki\u015filere fayda sa\u011flamamaktad\u0131rlar.<\/p>\n

Emily, Vertex'teki konu\u015fmas\u0131nda ki\u015fisel yolculu\u011funu ve Emily's Entourage'\u0131n yeni tedaviler i\u00e7in ara\u015ft\u0131rmalar\u0131 h\u0131zland\u0131rmak ve KF'nin nadir g\u00f6r\u00fclen nonsense mutasyonlar\u0131 i\u00e7in bir tedavi geli\u015ftirmek i\u00e7in \u00e7\u0131\u011f\u0131r a\u00e7an \u00e7abalar\u0131n\u0131 vurgulayacak. Konu\u015fmas\u0131 y\u00fczlerce Vertex ekibi \u00fcyesinden olu\u015fan canl\u0131 bir izleyici kitlesine sunulacak ve d\u00fcnya \u00e7ap\u0131nda binlerce ki\u015fiye canl\u0131 yay\u0131nlanacak.<\/p>\n

\"Excited

\u00d6\u011fle yeme\u011fi ve \u00f6\u011frenme konu\u015fmas\u0131 i\u00e7in heyecanl\u0131y\u0131m!<\/p><\/div>","protected":false},"excerpt":{"rendered":"

Emily, Nadir Hastal\u0131klar Haftas\u0131 i\u00e7in Emily's Entourage'\u0131n mesaj\u0131n\u0131 Boston, Massachusetts'teki Vertex Pharmaceuticals'a g\u00f6t\u00fcrecek. Nadir bir hastal\u0131\u011f\u0131n nadir bir mutasyonuna sahip bir hasta olarak hikayesini ara\u015ft\u0131rmalar\u0131 te\u015fvik etmek ve nadir mutasyonlara sahip olanlar da dahil olmak \u00fczere KF'li herkes i\u00e7in h\u0131zl\u0131 bir \u015fekilde ila\u00e7 geli\u015ftirmeye y\u00f6nelik g\u00fc\u00e7l\u00fc bir taahh\u00fctte bulunmak i\u00e7in kullanacak.... <\/p>\n

<\/div>\n

Daha fazla bilgi edinin<\/a><\/p>","protected":false},"author":59,"featured_media":4389,"comment_status":"open","ping_status":"closed","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],"tags":[],"class_list":["post-4381","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized"],"acf":[],"jetpack_featured_media_url":"https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Emily-at-Vertex-with-Sign.jpg","jetpack_sharing_enabled":true,"post_mailing_queue_ids":[],"_links":{"self":[{"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts\/4381","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\/59"}],"replies":[{"embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/comments?post=4381"}],"version-history":[{"count":5,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts\/4381\/revisions"}],"predecessor-version":[{"id":20470,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts\/4381\/revisions\/20470"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/media\/4389"}],"wp:attachment":[{"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/media?parent=4381"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/categories?post=4381"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/tags?post=4381"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}