{"id":10681,"date":"2018-03-08T10:51:55","date_gmt":"2018-03-08T15:51:55","guid":{"rendered":"https:\/\/www.emilysentourage.org\/?p=10681"},"modified":"2023-12-20T05:00:46","modified_gmt":"2023-12-20T10:00:46","slug":"from-arizona-to-alabama-raising-awareness-for-rare-disease-week","status":"publish","type":"post","link":"https:\/\/www.emilysentourage.org\/tr\/from-arizona-to-alabama-raising-awareness-for-rare-disease-week\/","title":{"rendered":"Arizona'dan Alabama'ya: Nadir Hastal\u0131klar Haftas\u0131 \u0130\u00e7in Fark\u0131ndal\u0131k Yaratmak"},"content":{"rendered":"

Ge\u00e7ti\u011fimiz hafta Nadir Hastal\u0131klar Haftas\u0131'yd\u0131 ve bu hafta nadir hastal\u0131klar konusunda \u00f6nemli bir fark\u0131ndal\u0131k yaratmak i\u00e7in \u00f6zel bir f\u0131rsatt\u0131.\u00a0<\/span><\/p>\n

Bir hastal\u0131k d\u00fcnya \u00e7ap\u0131nda 200.000'den az ki\u015fiyi etkiliyorsa nadir olarak kabul edilir. Kistik Fibrozis, d\u00fcnya \u00e7ap\u0131ndaki 70.000 prevalans\u0131 ile en iyi bilinen nadir hastal\u0131klardan biridir.<\/p>\n

\u0130lgin\u00e7tir ki, hastal\u0131klar bireysel olarak \"nadir\" olsa da, toplu olarak bundan \u00e7ok uzakt\u0131r. Asl\u0131nda, d\u00fcnya \u00e7ap\u0131nda 350 milyon insan\u0131 etkileyen toplam 7.000 nadir hastal\u0131k bulunmaktad\u0131r. \u0130ronik ger\u00e7ek \u015fu ki, nadir hastal\u0131klar asl\u0131nda olduk\u00e7a yayg\u0131nd\u0131r.<\/p>\n

Bu nadir hastal\u0131\u011f\u0131n nadir bir mutasyon grubu olan KF'nin nonsense mutasyonlar\u0131na odaklanan Emily's Entourage, \"nadir\" rozetini kalbine yak\u0131n tutmaktad\u0131r. Kistik Fibrozis'in sa\u00e7ma mutasyonlar\u0131na odaklanarak t\u00fcm nadir hastal\u0131klar i\u00e7in dikkat \u00e7ekmek ve ara\u015ft\u0131rma ve ila\u00e7 geli\u015ftirmeyi h\u0131zland\u0131rmak i\u00e7in nadir hastal\u0131klar haftas\u0131 etraf\u0131ndaki enerjiden yararlanma f\u0131rsat\u0131n\u0131 ciddiye almaktad\u0131r.<\/p>\n

Bu nedenle Emily ge\u00e7en haftay\u0131 iki farkl\u0131 nadir hastal\u0131klar haftas\u0131 sempozyumunda konu\u015fmak \u00fczere \u00fclkeyi zig zag \u00e7izerek ge\u00e7irdi.<\/p>\n

\u0130lk dura\u011f\u0131 Icagen'in a\u00e7\u0131l\u0131\u015f t\u00f6reni oldu. <\/span>Nadir Hastal\u0131klar \u00c7\u00f6l Sempozyumu<\/span><\/a><\/span> Tucson, Arizona'da d\u00fczenlendi. \u0130ki g\u00fcnl\u00fck bir etkinlik olan sempozyum, ila\u00e7 ve biyoteknoloji topluluklar\u0131ndan bilim insanlar\u0131n\u0131, ara\u015ft\u0131rmac\u0131lar\u0131 ve y\u00f6neticileri bir araya getirdi. Ama\u00e7, nadir hastal\u0131klar\u0131 tedavi edecek yeni terap\u00f6tikler i\u00e7in ara\u015ft\u0131rma ve ila\u00e7 geli\u015ftirmeyi ilerletmekti. Emily's Entourage'\u0131n kat\u0131lmaktan neden bu kadar heyecan duydu\u011funu anlamak zor de\u011fil!\u00a0<\/span><\/p>\n

\"\"

Emily's Entourage, Icagen'in Nadir Hastal\u0131klar \u00c7\u00f6l Sempozyumu'nun resmi \"vak\u0131f orta\u011f\u0131\" olmaktan onur duymu\u015ftur.<\/p><\/div>\n

Ayr\u0131ca, Emily's Entourage sempozyumun resmi \"vak\u0131f ortaklar\u0131ndan\" biri olarak se\u00e7ilmekten onur duydu. Emily, bu onurun bilinciyle konferans\u0131n ikinci g\u00fcn\u00fcne bilimsel ilerlemeyi h\u0131zland\u0131rmak i\u00e7in \u00e7ok payda\u015fl\u0131 i\u015fbirli\u011fi hakk\u0131nda g\u00fc\u00e7l\u00fc bir mesajla ba\u015flad\u0131. Konu\u015fmas\u0131nda, hasta ve aile liderli\u011findeki ara\u015ft\u0131rma vak\u0131flar\u0131n\u0131n ila\u00e7 ke\u015ffi ve geli\u015ftirilmesini h\u0131zland\u0131rmada oynayabilece\u011fi kritik rol\u00fc tart\u0131\u015ft\u0131.<\/span><\/p>\n

\"\"

Emily, konferans\u0131n ikinci g\u00fcn\u00fcne bilimsel ilerlemeyi h\u0131zland\u0131rmak i\u00e7in \u00e7ok payda\u015fl\u0131 i\u015fbirli\u011fi hakk\u0131nda g\u00fc\u00e7l\u00fc bir mesajla ba\u015flad\u0131.<\/p><\/div>\n

Nadir hastal\u0131klar haftas\u0131 yolculu\u011funun bir sonraki dura\u011f\u0131 Birmingham, Alabama'yd\u0131 ve Emily burada <\/span>5. Y\u0131ll\u0131k Nadir Hastal\u0131klar Genomik Sempozyumu<\/span><\/a><\/span> Birmingham'daki Alabama \u00dcniversitesi'nde.<\/span><\/p>\n

Emily sempozyumda, gelece\u011fin biyomedikal modelinin hayata ge\u00e7irilmesinde hastalar\u0131n, ailelerin ve vak\u0131flar\u0131n liderlik etti\u011fi \u00e7apraz fonksiyonlu ekiplerin oynad\u0131\u011f\u0131 \u00f6nemli rol\u00fc tart\u0131\u015ft\u0131.<\/span><\/p>\n

\"\"

Emily, UAB Nadir Hastal\u0131klar Genomik Sempozyumu'nda, gelece\u011fin biyomedikal modelinin hayata ge\u00e7irilmesinde hastalar\u0131n, ailelerin ve vak\u0131flar\u0131n liderlik etti\u011fi \u00e7apraz i\u015flevli ekiplerin oynad\u0131\u011f\u0131 \u00f6nemli rol hakk\u0131nda konu\u015ftu.<\/p><\/div>\n

\"Nadir hastal\u0131klar\u0131n tedavisinde \u00e7\u0131tay\u0131 y\u00fckseltmek istiyorsan\u0131z, bug\u00fcn\u00fcn ve yar\u0131n\u0131n at\u0131l\u0131mlar\u0131n\u0131n arkas\u0131ndaki parlak beyin g\u00fcc\u00fc olmak istiyorsan\u0131z, kendinize ortak olarak motive olmu\u015f, stratejik, giri\u015fimci hastalar ve aileler bulman\u0131z\u0131 \u00f6neririm. S\u00f6z veriyorum, \u00e7aresiz bir hastadan daha etkili bir proje y\u00f6neticisi, daha istekli ve becerikli bir i\u015fbirlik\u00e7i yoktur.\"<\/span><\/p><\/blockquote>\n

Nadir hastal\u0131klarla ilgili en \u015fa\u015f\u0131rt\u0131c\u0131 ger\u00e7eklerden biri, 7.000 nadir hastal\u0131ktan sadece 5% i\u00e7in onaylanm\u0131\u015f tedavilerin bulunmas\u0131d\u0131r. <\/span><\/p>\n

Emily's Entourage, bu konu\u015fmalar ve nadir hastal\u0131klar haftas\u0131 sosyal medya \u00e7al\u0131\u015fmalar\u0131m\u0131z arac\u0131l\u0131\u011f\u0131yla, hastalar, aileler ve vak\u0131flarla ger\u00e7ek bir i\u015fbirli\u011fini te\u015fvik etmeyi ve nihai hedef olarak etkili tedavilerin ve k\u00fcrlerin geli\u015ftirilmesini ve onaylanmas\u0131n\u0131 h\u0131zland\u0131rmay\u0131 ama\u00e7lam\u0131\u015ft\u0131r; b\u00f6ylece nadir hastal\u0131klar\u0131 i\u00e7in tedavi g\u00f6ren ki\u015fi say\u0131s\u0131n\u0131 \u015fu \u015fekilde de\u011fi\u015ftirebiliriz 100%<\/strong>. <\/span><\/p>\n

Emily's Entourage olarak, hi\u00e7bir hastal\u0131k veya mutasyonun \u00f6nemsenmeyecek kadar nadir olmamas\u0131 gerekti\u011fine inan\u0131yoruz. <\/span><\/p>","protected":false},"excerpt":{"rendered":"

Last week was Rare Disease Week, a special opportunity to raise critical awareness for rare disease.\u00a0 A disease is considered rare when it affects fewer than 200,000 people worldwide. With its worldwide prevalence of 70,000, Cystic Fibrosis is one of the better known rare diseases. Interestingly, although individually the diseases are “rare,” collectively they are… <\/p>\n

<\/div>\n

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