{"id":12348,"date":"2019-02-28T08:39:32","date_gmt":"2019-02-28T13:39:32","guid":{"rendered":"https:\/\/www.emilysentourage.org\/?p=12348"},"modified":"2019-02-28T08:39:32","modified_gmt":"2019-02-28T13:39:32","slug":"ee-dares-to-be-rare-rare-disease-day-2019","status":"publish","type":"post","link":"https:\/\/www.emilysentourage.org\/tr\/ee-dares-to-be-rare-rare-disease-day-2019\/","title":{"rendered":"EE Nadir Olmaya Cesaret Ediyor: Nadir Hastal\u0131klar G\u00fcn\u00fc 2019"},"content":{"rendered":"

Bu y\u0131l 28 \u015eubat'ta, nadir hastal\u0131klar konusunda \u00f6nemli bir fark\u0131ndal\u0131k yaratmay\u0131 ama\u00e7layan d\u00fcnya \u00e7ap\u0131nda bir kampanya olan 12. Y\u0131ll\u0131k Nadir Hastal\u0131klar G\u00fcn\u00fc kutlan\u0131yor. Bu kampanya, \u00f6ncelikli olarak genel kamuoyunu hedeflemekle birlikte, politika yap\u0131c\u0131lar, end\u00fcstri temsilcileri, ara\u015ft\u0131rmac\u0131lar ve sa\u011fl\u0131k profesyonelleri ile nadir hastal\u0131klarla ilgili tart\u0131\u015fmalar\u0131 geli\u015ftirmeyi de ama\u00e7lamaktad\u0131r.<\/span><\/p>\n

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Emily's Entourage (EE) olarak nihai hedefimiz, Kistik Fibrozis'in (KF) sa\u00e7ma mutasyonlar\u0131na sahip olanlar i\u00e7in ara\u015ft\u0131rma ve ila\u00e7 geli\u015ftirmeyi h\u0131zland\u0131rmakt\u0131r. Sa\u00e7ma mutasyonlara sahip olanlar, nadir bir hastal\u0131\u011f\u0131n nadir bir mutasyon grubunu ve KF toplulu\u011funun \"nadir\" 10%'sinin onaylanm\u0131\u015f veya ge\u00e7 a\u015fama klinik deneme tedavileri olmayan talihsiz bir b\u00f6l\u00fcm\u00fcn\u00fc temsil eden \"nadir\" ki\u015filerdir.<\/span><\/p>\n

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Bir hastal\u0131k d\u00fcnya \u00e7ap\u0131nda 200.000'den az ki\u015fiyi etkiliyorsa nadir olarak kabul edilir ve KF \u015fu anda d\u00fcnya \u00e7ap\u0131nda yakla\u015f\u0131k 70.000 ki\u015fiyi etkilemektedir, bu da onu daha \"yayg\u0131n\" bir nadir hastal\u0131k haline getirmektedir. EE, nadir hastal\u0131k rozetini kalbine yak\u0131n tutmakta, nadir hastal\u0131k toplulu\u011fuyla bir araya gelmekte ve bug\u00fcn gibi g\u00fcnleri, etkilenenlerin onuruna t\u00fcm nadir hastal\u0131klar i\u00e7in ara\u015ft\u0131rmay\u0131 h\u0131zland\u0131rmak i\u00e7in aciliyet ve enerji yaymada ayr\u0131lmaz bulmaktad\u0131r. Tek tek hastal\u0131klar kendi ba\u015flar\u0131na \"nadir\" olarak nitelendirilebilse de, d\u00fcnya \u00e7ap\u0131nda 350.000.000 ki\u015fiyi veya kabaca her 10 Amerikal\u0131dan 1'ini etkileyen 7.000'den fazla nadir hastal\u0131k bulunmaktad\u0131r. Nadir hastal\u0131klar\u0131n bu kadar yayg\u0131n olmas\u0131na ra\u011fmen, D\u00fcnya Sa\u011fl\u0131k \u00d6rg\u00fct\u00fc'ne g\u00f6re nadir hastal\u0131klar\u0131n 10%'sinden daha az\u0131 i\u00e7in FDA onayl\u0131 tedaviler bulunmaktad\u0131r. Nadir Hastal\u0131klar Ulusal \u00d6rg\u00fct\u00fc (NORD)<\/a>.\u00a0<\/span><\/p>\n

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Ge\u00e7en y\u0131l Nadir Hastal\u0131klar Haftas\u0131 2018'de EE, Icagen'in Tucson, Arizona'da d\u00fczenlenen ve nadir hastal\u0131klar i\u00e7in ara\u015ft\u0131rma ve ila\u00e7 geli\u015ftirmeyi ilerletmek amac\u0131yla bilim insanlar\u0131 ile ila\u00e7 ve biyoteknoloji \u015firketlerinden temsilcileri bir araya getiren iki g\u00fcnl\u00fck bir etkinlik olan Nadir Hastal\u0131klar \u00c7\u00f6l Sempozyumu'nda \"vak\u0131f orta\u011f\u0131\" olarak onurland\u0131r\u0131ld\u0131. \u0130kinci g\u00fcn Emily, \u00e7ok payda\u015fl\u0131 i\u015fbirli\u011finin \u00f6zellikle hasta liderli\u011findeki ara\u015ft\u0131rma vak\u0131flar\u0131 arac\u0131l\u0131\u011f\u0131yla bilimsel ilerlemeyi nas\u0131l h\u0131zland\u0131rabilece\u011fine dair ilgi \u00e7ekici bir mesajla konferansa ba\u015flad\u0131. Emily daha sonra g\u00fcneye y\u00f6neldi ve burada 5. Y\u0131ll\u0131k Nadir Hastal\u0131klar Genomik Sempozyumu<\/a> Birmingham'daki Alabama \u00dcniversitesi'nde gelece\u011fin yeni biyomedikal modellerinin ortaya \u00e7\u0131kmas\u0131nda hastalar\u0131n ve ailelerin oynayabilece\u011fi kritik rol hakk\u0131nda konu\u015ftu.<\/span><\/p>\n

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Bu y\u0131l, Emily g\u00fcn\u00fcn ba\u015flang\u0131c\u0131n\u0131 PRA Sa\u011fl\u0131k Bilimleri<\/a>' Nadir Hastal\u0131klar G\u00fcn\u00fc etkinli\u011fine \u0131\u015f\u0131k tutacak. <\/span>Hasta savunucular\u0131n\u0131n ve \u00f6rg\u00fctlerinin klinik geli\u015ftirme s\u00fcrecinde sahip oldu\u011fu g\u00fc\u00e7 ve bu alanda fark\u0131ndal\u0131\u011f\u0131n neden bu kadar \u00f6nemli oldu\u011fu<\/span>. EE toplulu\u011funun bizi KF pop\u00fclasyonunun 100%'si, hatta en nadir g\u00f6r\u00fclenleri i\u00e7in daha parlak, daha sa\u011fl\u0131kl\u0131 bir gelece\u011fe nas\u0131l s\u00fcrekli olarak yakla\u015ft\u0131rd\u0131\u011f\u0131na dair fark\u0131ndal\u0131\u011f\u0131 yaymak i\u00e7in bir platform sa\u011flad\u0131\u011f\u0131 i\u00e7in PRA'ya te\u015fekk\u00fcr ederiz. <\/span><\/p>\n

Emily's Entourage olarak, hi\u00e7bir hastal\u0131\u011f\u0131n veya mutasyonun \u00f6nemsenmeyecek kadar nadir olmad\u0131\u011f\u0131na inan\u0131yoruz. Bu Nadir Hastal\u0131klar G\u00fcn\u00fc'nde, nadir olmaya cesaret edin, benzersizli\u011finize yaslan\u0131n ve nadir hastal\u0131klara olan ba\u011fl\u0131l\u0131\u011f\u0131n\u0131z\u0131 g\u00f6stermek i\u00e7in EE'ye kat\u0131l\u0131n, bu k\u00fc\u00e7\u00fck ama \u015fiddetli toplulu\u011fa nadir olsalar da g\u00fc\u00e7l\u00fc olduklar\u0131n\u0131, g\u00fc\u00e7l\u00fc olduklar\u0131n\u0131 ve en \u00f6nemlisi geride b\u0131rak\u0131lmayacaklar\u0131n\u0131 hat\u0131rlat\u0131n. <\/span><\/p>","protected":false},"excerpt":{"rendered":"

This February 28 marks the 12th Annual Rare Disease Day, a worldwide campaign to bring about critical awareness for rare diseases. This campaign, while primarily targeted to the general public, also seeks to cultivate discussion surrounding rare disease with policymakers, industry representatives, researchers, and health professionals. At Emily\u2019s Entourage (EE), our ultimate goal is to… <\/p>\n

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Daha fazla bilgi edinin<\/a><\/p>","protected":false},"author":1704,"featured_media":12355,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_seopress_robots_primary_cat":"none","_seopress_titles_title":"","_seopress_titles_desc":"","_seopress_robots_index":"","_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-12348","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\/EmilyCF_2.jpg","jetpack_sharing_enabled":true,"post_mailing_queue_ids":[],"_links":{"self":[{"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts\/12348","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\/1704"}],"replies":[{"embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/comments?post=12348"}],"version-history":[{"count":3,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts\/12348\/revisions"}],"predecessor-version":[{"id":12360,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts\/12348\/revisions\/12360"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/media\/12355"}],"wp:attachment":[{"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/media?parent=12348"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/categories?post=12348"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/tags?post=12348"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}