{"id":9271,"date":"2017-12-04T12:38:59","date_gmt":"2017-12-04T17:38:59","guid":{"rendered":"https:\/\/www.emilysentourage.org\/?p=9271"},"modified":"2018-02-08T19:11:21","modified_gmt":"2018-02-09T00:11:21","slug":"ee-awards-1-4-million-to-research-on-cystic-fibrosis-nonsense-mutations","status":"publish","type":"post","link":"https:\/\/www.emilysentourage.org\/tr\/ee-awards-1-4-million-to-research-on-cystic-fibrosis-nonsense-mutations\/","title":{"rendered":"EE, Kistik Fibrozis Nonsense Mutasyonlar\u0131 Ara\u015ft\u0131rmalar\u0131na $1.4 Milyon \u00d6d\u00fcl Verdi"},"content":{"rendered":"

Emily's Entourage, iki y\u0131l boyunca toplam $1.4 Milyon tutar\u0131nda be\u015f ara\u015ft\u0131rma hibesinin d\u00fcnyan\u0131n d\u00f6rt bir yan\u0131ndan r\u00fcya gibi bir ara\u015ft\u0131rmac\u0131 ekibine verildi\u011fini duyurmaktan gurur duyar.<\/p>\n

\"

Burun epitel h\u00fccreleri toplan\u0131yor.<\/p><\/div>\n

Bu hibeler, kurulu\u015fun \"Hibe Program\u0131\" taraf\u0131ndan desteklenen ilk hibe turuydu. Catalyst for the Cure Kampanyas\u0131<\/strong><\/em>-Kistik Fibrozis ile ili\u015fkili sa\u00e7ma mutasyonlar\u0131 hedefleyen kilit ara\u015ft\u0131rma alanlar\u0131n\u0131 finanse etmek \u00fczere \u00fc\u00e7 y\u0131l i\u00e7inde $3 milyon toplamak i\u00e7in \u00e7\u0131\u011f\u0131r a\u00e7an bir giri\u015fim. Bu stratejik alanlar Emily's Entourage Bilimsel Dan\u0131\u015fma Kurulu taraf\u0131ndan belirlendi \u00e7\u00fcnk\u00fc KF'nin sa\u00e7ma mutasyonlar\u0131na sahip hastalara h\u0131zl\u0131 bir \u015fekilde ula\u015fabilecek son teknoloji tedavilerin geli\u015ftirilmesini h\u0131zland\u0131rmak i\u00e7in en b\u00fcy\u00fck potansiyeli sunuyorlar. (burada stratejiler hakk\u0131nda bir \u015feyler eklemek gerekiyor)<\/p>\n

\n

W1282X-CFTR Hava Yolu Epitel H\u00fccresi Ara\u00e7 Kutusunun Olu\u015fturulmas\u0131<\/strong><\/h3>\n
\"

Scott Randell, PhD<\/strong><\/p><\/div>\n

Do\u011frulanm\u0131\u015f h\u00fccre modellerinin yoklu\u011fu, Emily'nin W1282X-CFTR mutasyonu gibi KF ile ili\u015fkili sa\u00e7ma mutasyonlar i\u00e7in tedavilerin geli\u015ftirilmesinde \u00f6nemli bir engel olmu\u015ftur. Scott H Randell, PhD ve Finn Hawkins, MBBCh, Emily gibi KF'li hastalar taraf\u0131ndan sa\u011flanan h\u00fccreleri kullanarak W1282X homozigot hava yolu h\u00fccre modelleri geli\u015ftirmek i\u00e7in iki laboratuvarlar\u0131n\u0131n g\u00fc\u00e7lerini birle\u015ftirecek. Bu h\u00fccre modelleri, terap\u00f6tik geli\u015fimi h\u0131zland\u0131rmak i\u00e7in KF ara\u015ft\u0131rma toplulu\u011funun kullan\u0131m\u0131na sunulacakt\u0131r.<\/p>\n

Strateji: Bir Ara\u00e7 Kutusu Olu\u015fturmak: Sa\u00e7ma Mutasyonlar\u0131n Biyolojisini Anlamak ve Modeller Geli\u015ftirmek<\/em><\/p>\n

 <\/p>\n

\n

Hava Yolu Epitelinde W1282X-CFTR Fonksiyonel \u0130fadesini Geli\u015ftirmek i\u00e7in Yeni Yakla\u015f\u0131mlar<\/strong><\/h3>\n
\"

Gergely L. Luckas, MD, PhD<\/strong><\/p><\/div>\n

KF, CFTR genindeki bir mutasyondan kaynaklan\u0131r ve bu da \u00fcretilen CFTR proteininin i\u015flevinin azalmas\u0131na neden olur. Gergely L. Lukacs, MD, PhD, yenilik\u00e7i biyokimyasal, genetik, elektrofizyolojik ve farmakolojik teknikler kullanarak W1282X sa\u00e7ma mutasyonuyla ili\u015fkili kusurlu CFTR proteininin i\u015flevini daha iyi anlamay\u0131 umuyor. Bu anlay\u0131\u015f, proteinin h\u00fccre y\u00fczeyinde daha iyi i\u015flev g\u00f6rmesini sa\u011flayan yeni hedefli m\u00fcdahalelere yol a\u00e7abilir.<\/p>\n

Strateji: Bir Ara\u00e7 Kutusu Olu\u015fturmak: Sa\u00e7ma Mutasyonlar\u0131n Biyolojisini Anlamak ve Modeller Geli\u015ftirmek<\/em><\/p>\n

 <\/p>\n

\n

W1282X-CFTR \u0130\u015flevini Geri Y\u00fcklemek \u0130\u00e7in K\u00fc\u00e7\u00fck Molek\u00fcllerin Geli\u015ftirilmesi<\/strong><\/h3>\n
\"

Alan S. Verkman, MD, PhD<\/strong><\/p><\/div>\n

Alan S. Verkman, MD, PhD, \u00f6zellikle KF mutasyonlar\u0131n\u0131 hedef alan ila\u00e7 benzeri molek\u00fclleri tan\u0131mlamak i\u00e7in \u00f6nc\u00fc yakla\u015f\u0131mlar kullanmaktad\u0131r. Daha \u00f6nce Emily's Entourage taraf\u0131ndan finanse edilen \u00e7al\u0131\u015fmalarda Dr. Verkman, en yayg\u0131n KF mutasyonu olan F508del'in tedavisinde kullan\u0131lan kombine \"d\u00fczelticiler\" ve \"g\u00fc\u00e7lendiriciler \"in W1282X mutasyonunu tedavi etmek i\u00e7in de kullan\u0131labilece\u011fini ortaya koymu\u015ftur. Yeni \u00e7al\u0131\u015fmalar, klinik kullan\u0131m i\u00e7in mevcut ila\u00e7lar\u0131n veya nutras\u00f6tiklerin tan\u0131mlanmas\u0131n\u0131n yan\u0131 s\u0131ra yeni ila\u00e7 adaylar\u0131n\u0131n belirlenmesine odaklanacakt\u0131r.<\/p>\n

Strateji: K\u00fct\u00fcphanede Gezinme: Terap\u00f6tik Molek\u00fcllerin Belirlenmesi ve Yeniden Tasarlanmas\u0131<\/em><\/p>\n

 <\/p>\n

\n

CFTRW1282X Epitelinde Hava Yolu Hidrasyonunu Normalle\u015ftirmek \u0130\u00e7in SPX101 Kullan\u0131m\u0131<\/strong><\/h3>\n
\"

Robert Tarran, PhD<\/strong><\/p><\/div>\n

KF'nin temel \u00f6zelliklerinden biri akci\u011ferlerde biriken ve kronik bakteriyel enfeksiyonlara neden olan kal\u0131n, susuz mukustur. KF'li hastalarda ENaC ad\u0131 verilen a\u015f\u0131r\u0131 aktif bir protein akci\u011ferlerden nemi emer ve hava yolu dehidrasyonuna neden olur. Robert Tarran, PhD, ENaC'yi inhibe etmek i\u00e7in yeni bir preklinik aday kullanan hava yollar\u0131n\u0131 rehidrate etmek i\u00e7in yeni bir terap\u00f6tik yakla\u015f\u0131m\u0131 ara\u015ft\u0131racak.<\/p>\n

Strateji: Yarat\u0131c\u0131 Ge\u00e7ici \u00c7\u00f6z\u00fcmler: Alternatif Yollarla \u00c7al\u0131\u015fma<\/em>
\n<\/strong><\/p>\n

<\/h3>\n

 <\/p>\n

\n

CFTR Nonsense Mutasyonlar\u0131n\u0131n Terap\u00f6tik Onar\u0131m\u0131
\n<\/em><\/strong><\/h3>\n
\"

Christopher Ahern, PhD<\/strong><\/p><\/div>\n

W1282X gibi sa\u00e7ma mutasyonlar, RNA dizisi i\u00e7inde belirli bir yaz\u0131m hatas\u0131na neden olarak CFTR proteininin kesilmi\u015f bir formunun \u00fcretilmesine neden olur. Christopher Ahern, PhD, John Lueck, PhD ve Paul McCray, MD liderli\u011findeki bir proje, tam CFTR proteininin \u00fcretimini te\u015fvik eden yenilik\u00e7i bir genetik yakla\u015f\u0131m kullanacakt\u0131r.<\/p>\n

Strateji: Yaz\u0131m Denetimi: RNA D\u00fczenlemesi Yoluyla Mutasyonlar\u0131n D\u00fczeltilmesi<\/em><\/p>\n

<\/h5>\n

 <\/p>\n

 <\/p>\n

\n

Bu Nas\u0131l Bir Etki Yaratacak?<\/strong><\/h3>\n

Kistik Fibrozis'in \u00e7ehresi h\u0131zla de\u011fi\u015fiyor. KF pop\u00fclasyonunun 90%'si i\u00e7in hastal\u0131\u011f\u0131 d\u00f6n\u00fc\u015ft\u00fcren, halihaz\u0131rda mevcut ve geli\u015ftirilmekte olan yeni, oyunun kurallar\u0131n\u0131 de\u011fi\u015ftiren tedaviler bulunmaktad\u0131r.<\/p>\n

Ancak Emily gibi KF'nin sa\u00e7ma mutasyonunun iki kopyas\u0131na sahip olanlar da dahil olmak \u00fczere, KF pop\u00fclasyonunun bu at\u0131l\u0131mlardan yararlanamayan 10%'lik bir k\u0131sm\u0131 hala var.<\/p>\n

Bu hibelerle ba\u015flayarak Catalyst for the Cure Kampanyas\u0131<\/strong><\/em> KF'nin nonsense mutasyonlar\u0131na sahip hastalar i\u00e7in ara\u015ft\u0131rma ve ila\u00e7 geli\u015ftirmeyi h\u0131zland\u0131rmak \u00fczere stratejik olarak tasarlanm\u0131\u015ft\u0131r. Bu projelere liderlik eden ara\u015ft\u0131rmac\u0131lar, alanda son derece sayg\u0131n ara\u015ft\u0131rmac\u0131lard\u0131r - ger\u00e7ek bir r\u00fcya tak\u0131m\u0131.<\/p>\n

KF'nin sa\u00e7ma mutasyonlar\u0131na ili\u015fkin ara\u015ft\u0131rmalara olan ba\u011fl\u0131l\u0131klar\u0131 i\u00e7in parlak bilim insanlar\u0131na ve c\u00f6mertlikleri ve adanm\u0131\u015fl\u0131klar\u0131 itici g\u00fcc\u00fcm\u00fcz olan t\u00fcm ba\u011f\u0131\u015f\u00e7\u0131lara y\u00fcrekten te\u015fekk\u00fcr etmek istiyoruz.<\/p>","protected":false},"excerpt":{"rendered":"

Emily's Entourage, iki y\u0131l i\u00e7inde toplam $1.4 Milyon tutar\u0131nda be\u015f ara\u015ft\u0131rma hibesinin d\u00fcnyan\u0131n d\u00f6rt bir yan\u0131ndan gelen r\u00fcya ara\u015ft\u0131rmac\u0131lar ekibine verildi\u011fini duyurmaktan gurur duyar. Bunlar, kurulu\u015fun Catalyst for the Cure Kampanyas\u0131 taraf\u0131ndan desteklenen ilk hibe turuydu - \u00fc\u00e7 y\u0131l i\u00e7inde $3 milyon toplamak i\u00e7in \u00e7\u0131\u011f\u0131r a\u00e7an bir giri\u015fim... <\/p>\n

<\/div>\n

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