{"id":18257,"date":"2023-02-01T10:51:20","date_gmt":"2023-02-01T15:51:20","guid":{"rendered":"https:\/\/www.emilysentourage.org\/?p=18257"},"modified":"2023-12-20T05:13:52","modified_gmt":"2023-12-20T10:13:52","slug":"emilys-entourage-awards-220000-research-grant-to-university-of-lisboa-laboratory-to-advance-research-into-novel-approach-to-potentially-treat-nonsense-mutations-of-cystic-fibrosis","status":"publish","type":"post","link":"https:\/\/www.emilysentourage.org\/tr\/emilys-entourage-awards-220000-research-grant-to-university-of-lisboa-laboratory-to-advance-research-into-novel-approach-to-potentially-treat-nonsense-mutations-of-cystic-fibrosis\/","title":{"rendered":"Emily's Entourage, Kistik Fibrozisin Nonsense Mutasyonlar\u0131n\u0131 Potansiyel Olarak Tedavi Edecek Yeni Yakla\u015f\u0131m Ara\u015ft\u0131rmalar\u0131n\u0131 \u0130lerletmek i\u00e7in Lisboa \u00dcniversitesi Laboratuvar\u0131na $220,000 Ara\u015ft\u0131rma Bursu Verdi"},"content":{"rendered":"

Ara\u015ft\u0131rma, kistik fibrozisin (KF) nonsense mutasyonlar\u0131 i\u00e7in yeni veya geli\u015ftirilmi\u015f terap\u00f6tik yakla\u015f\u0131mlar\u0131n tan\u0131mlanmas\u0131 ve do\u011frulanmas\u0131na odaklanm\u0131\u015ft\u0131r<\/em><\/strong><\/h3>\n
\"\"

Carlos M. Farinha, PhD, Lizbon \u00dcniversitesi Fen Fak\u00fcltesi Biyosistemler ve B\u00fct\u00fcnle\u015ftirici Bilimler Enstit\u00fcs\u00fc'nden.<\/p><\/div>\n

Lower Merion, PA - 1 \u015eubat 2023 - Nonsense mutasyonu olanlar da dahil olmak \u00fczere kistik fibrozis (KF) hastalar\u0131n\u0131n son 10%'si i\u00e7in yeni tedaviler ve tedavi ara\u015ft\u0131rmalar\u0131n\u0131 h\u0131zland\u0131ran yenilik\u00e7i bir 501(c)3 vakf\u0131 olan Emily's Entourage (EE), bug\u00fcn Carlos M. Farinha'ya $220.000 fon verdi\u011fini duyurdu. Lizbon \u00dcniversitesi Fen Fak\u00fcltesi Biyosistemler ve B\u00fct\u00fcnle\u015ftirici Bilimler Enstit\u00fcs\u00fc'nden (BioISI) Farinha, yeni hedeflerin ke\u015ffi ve do\u011frulanmas\u0131 yoluyla KF'nin sa\u00e7ma mutasyonlar\u0131nda CFTR (kistik fibroz transmembran iletkenlik d\u00fczenleyicisi) protein i\u015flevini geri kazanma ara\u015ft\u0131rmalar\u0131n\u0131 desteklemek i\u00e7in.<\/p>\n

Dr. Farinha'n\u0131n ara\u015ft\u0131rmalar\u0131, KF'nin molek\u00fcler mekanizmalar\u0131na, \u00f6zellikle de CFTR trafi\u011fini d\u00fczenleyen yeni CFTR etkile\u015fenlerinin tan\u0131mlanmas\u0131na odaklanmaktad\u0131r. Bu mekanizmalar, KF'yi tedavi etmek i\u00e7in yeni terap\u00f6tik hedefler olu\u015fturabilir ve ayr\u0131ca KF'nin nadir mutasyonlar\u0131n\u0131n etkisini karakterize etmede \u00f6nemli bir rol oynayabilir.<\/p>\n

En yayg\u0131n genetik mutasyon olan F508del'in en az bir kopyas\u0131na sahip olan KF'li ki\u015filerin 90%'si i\u00e7in olduk\u00e7a etkili CFTR mod\u00fclat\u00f6r tedavileri art\u0131k mevcut olsa da, nonsense veya di\u011fer nadir KF mutasyonlar\u0131na sahip KF toplulu\u011funun yakla\u015f\u0131k 10%'si bu hayat kurtar\u0131c\u0131 tedavilerden yararlanamamaktad\u0131r. Dr. Farinha'n\u0131n \u00e7al\u0131\u015fmalar\u0131, KF toplulu\u011funun son 10%'sinde bulunanlar i\u00e7in CFTR proteinini geri kazanmaya odaklanm\u0131\u015ft\u0131r. Ara\u015ft\u0131rmalar\u0131, de\u011fi\u015ftirilmi\u015f genleri ve proteinleri ara\u015ft\u0131rmay\u0131 ve bunlar\u0131 s\u0131n\u0131f I mutasyonlar\u0131 olan bireylerde CFTR kurtarmay\u0131 art\u0131rabilecek yeni hedefler bulmak i\u00e7in kullanmay\u0131 ama\u00e7lamaktad\u0131r.<\/p>\n

\"Sign2Sense - Nonsense Mutasyonlar\u0131nda Hastal\u0131k \u0130mzalar\u0131: Mekanizmalardan iyile\u015ftirilmi\u015f tedavilere\" ba\u015fl\u0131kl\u0131 proje, nonsense mutasyonlar\u0131n\u0131n bask\u0131lanmas\u0131n\u0131 te\u015fvik etmek i\u00e7in potansiyel hedefler olarak G542X-CFTR ile ili\u015fkili yak\u0131n zamanda tan\u0131mlanan ifade imzalar\u0131n\u0131 ke\u015ffetmeyi ama\u00e7lamaktad\u0131r. Sa\u00e7ma mutasyonlar, DNA dizisine erken bir sa\u00e7ma veya dur kodonu eklendi\u011finde ortaya \u00e7\u0131kar. Mutasyona u\u011fram\u0131\u015f dizi bir proteine \u00e7evrildi\u011finde, ortaya \u00e7\u0131kan protein eksiktir ve protein i\u015flevsel de\u011fildir.<\/p>\n

Emily's Entourage'\u0131n Bilimsel Ba\u015f Sorumlusu PhD Chandra Ghose, \"KF'deki sa\u00e7ma mutasyonlar, ila\u00e7 ke\u015ffi ve geli\u015ftirilmesi i\u00e7in olduk\u00e7a zorlu hedefler olarak biliniyor\" dedi. \"Dr. Farinha'n\u0131n ara\u015ft\u0131rmas\u0131, yeni bir etki mekanizmas\u0131 arac\u0131l\u0131\u011f\u0131yla KF pop\u00fclasyonunun son 10%'sindeki bireylere potansiyel olarak ula\u015fmak i\u00e7in heyecan verici bir f\u0131rsat\u0131 temsil ediyor.\"<\/p>\n

Bu hibenin bir par\u00e7as\u0131 olarak Dr. Farinha, CFTR mRNA ve tam uzunlukta protein seviyelerinin artmas\u0131n\u0131 te\u015fvik etme yetenekleri a\u00e7\u0131s\u0131ndan yeni hedefleri do\u011frulamak ve karakterize etmek i\u00e7in daha fazla ara\u015ft\u0131rma y\u00fcr\u00fctecektir. KF'nin nonsense mutasyonlar\u0131na sahip ki\u015filerde, CFTR proteininin \u00e7evirisi zaman\u0131ndan \u00f6nce durdurulur ve i\u015flevsel CFTR proteini \u00fcretilmez. Bunu ak\u0131lda tutarak, tam uzunlukta CFTR proteinini te\u015fvik edecek bir strateji, di\u011fer tedavilerle birlikte kullan\u0131lacak sinerjik stratejilere yol a\u00e7abilir.<\/p>\n

Dr. Farinha, \"Emily's Entourage'dan KF'yi, \u00f6zellikle de sa\u00e7ma mutasyonlar\u0131 potansiyel olarak tedavi edecek yeni terap\u00f6tik hedeflere y\u00f6nelik ara\u015ft\u0131rmalar\u0131m\u0131 s\u00fcrd\u00fcrmek i\u00e7in bu fonu almaktan heyecan duyuyorum\" dedi. \"KF'li t\u00fcm insanlar\u0131 tedavi etmek i\u00e7in etkili stratejiler bulman\u0131n yolu muhtemelen yakla\u015f\u0131mlar\u0131 birle\u015ftirmek olacakt\u0131r. \u00c7al\u0131\u015fmam\u0131z sayesinde, bozulan h\u00fccresel mekanizmalar\u0131 ayd\u0131nlatarak ve bunlar\u0131 tam uzunlukta CFTR \u00fcretimini desteklemek i\u00e7in kullanarak sa\u00e7ma mutasyonlar\u0131 hedeflemek i\u00e7in ek bir yakla\u015f\u0131m\u0131 karakterize etmeyi ve do\u011frulamay\u0131 \u00f6neriyoruz.\"<\/p>\n

Proje, nonsense mutasyonlar\u0131yla ili\u015fkili KF i\u00e7in yeni veya geli\u015ftirilmi\u015f terap\u00f6tik yakla\u015f\u0131mlar\u0131n tan\u0131mlanmas\u0131na ve do\u011frulanmas\u0131na ve nihayetinde KF'li t\u00fcm insanlar i\u00e7in etkili tedavi se\u00e7eneklerinin ke\u015ffedilmesine ve geli\u015ftirilmesine katk\u0131da bulunacakt\u0131r.<\/p>\n

###<\/p>\n

Emily'nin \u00c7evresi Hakk\u0131nda<\/strong>
\nEmily's Entourage, Kistik Fibrozis (KF) pop\u00fclasyonunun son 10%'sinde yer alan ve KF'nin nonsense mutasyonlar\u0131na sahip olanlar da dahil olmak \u00fczere mevcut mutasyon hedefli tedavilerden yararlanamayan bireyler i\u00e7in yeni tedaviler ve bir tedavi ara\u015ft\u0131rmas\u0131n\u0131 h\u0131zland\u0131ran yenilik\u00e7i bir 501(c)3't\u00fcr. Emily's Entourage 2011 y\u0131l\u0131ndan bu yana milyonlarca dolarl\u0131k ara\u015ft\u0131rma hibesi vermi\u015f, \u015fu anda sat\u0131n al\u0131nm\u0131\u015f bir KF gen terapisi \u015firketini kurmu\u015f, klinik deneylere kat\u0131l\u0131m\u0131 h\u0131zland\u0131rmak i\u00e7in bir hasta kay\u0131t defteri ve klinik deney e\u015fle\u015ftirme program\u0131 geli\u015ftirmi\u015f ve d\u00fcnya \u00e7ap\u0131nda y\u00fcksek etkili ara\u015ft\u0131rma ve ila\u00e7 geli\u015ftirme \u00e7abalar\u0131na \u00f6nc\u00fcl\u00fck etmi\u015ftir. Kurulu\u015f, New York Times, STAT, CNN, People ve daha fazlas\u0131 dahil olmak \u00fczere ulusal medyada yer alm\u0131\u015ft\u0131r. Daha fazla bilgi i\u00e7in emilysentourage.org<\/a>.<\/p>\n

Medya \u0130leti\u015fim<\/strong>
\nEmily'nin \u00c7evresi
\nadmin@emilysentourage.org<\/a><\/p>","protected":false},"excerpt":{"rendered":"

Ara\u015ft\u0131rma, kistik fibrozisin (KF) nonsense mutasyonlar\u0131 i\u00e7in yeni veya geli\u015ftirilmi\u015f terap\u00f6tik yakla\u015f\u0131mlar\u0131n tan\u0131mlanmas\u0131 ve do\u011frulanmas\u0131na odaklanmaktad\u0131r Lower Merion, PA - 1 \u015eubat 2023 - Emily's Entourage (EE), kistik fibrozisli ki\u015filerin son 10%'si i\u00e7in yeni tedaviler ve bir tedavi i\u00e7in ara\u015ft\u0131rmalar\u0131 h\u0131zland\u0131ran yenilik\u00e7i bir 501(c)3 vakf\u0131 ... <\/p>\n

<\/div>\n

Daha fazla bilgi edinin<\/a><\/p>","protected":false},"author":1361,"featured_media":18260,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_seopress_titles_title":"%%post_title%% %%sep%% %%sitetitle%%","_seopress_titles_desc":"%%post_excerpt%%","_seopress_robots_index":"","_seopress_robots_follow":"","_seopress_robots_imageindex":"","_seopress_robots_snippet":"","_seopress_robots_primary_cat":"none","_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":"both","_seopress_redirections_param":"","_seopress_redirections_type":301,"_seopress_analysis_target_kw":"","_seopress_news_disabled":"","_seopress_video_disabled":"","_seopress_video":[],"_seopress_pro_schemas_manual":[{"_seopress_pro_rich_snippets_type":"none"}],"_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":[178],"tags":[],"class_list":["post-18257","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-press-releases"],"acf":[],"jetpack_featured_media_url":"https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Carlos-M-Farinha.jpg","jetpack_sharing_enabled":true,"post_mailing_queue_ids":[],"_links":{"self":[{"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts\/18257","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\/1361"}],"replies":[{"embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/comments?post=18257"}],"version-history":[{"count":5,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts\/18257\/revisions"}],"predecessor-version":[{"id":20509,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts\/18257\/revisions\/20509"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/media\/18260"}],"wp:attachment":[{"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/media?parent=18257"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/categories?post=18257"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/tags?post=18257"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}