{"id":25895,"date":"2025-11-19T09:00:35","date_gmt":"2025-11-19T13:00:35","guid":{"rendered":"https:\/\/www.emilysentourage.org\/?p=25895"},"modified":"2025-11-19T12:07:53","modified_gmt":"2025-11-19T16:07:53","slug":"nacfc-2025-key-takeaways-for-the-final-10","status":"publish","type":"post","link":"https:\/\/www.emilysentourage.org\/tr\/nacfc-2025-key-takeaways-for-the-final-10\/","title":{"rendered":"NACFC 2025: Nihai 10% i\u00e7in Temel \u00c7\u0131kar\u0131mlar"},"content":{"rendered":"

Yazan Chandra Ghose, PhD, Emily's Entourage'\u0131n Bilimsel Ba\u015f Sorumlusu<\/span><\/em><\/p>\n

\"\"<\/p>\n

Puget Sound'un puslu k\u0131y\u0131lar\u0131ndan kongre merkezinin u\u011fultulu salonlar\u0131na kadar Seattle bu sonbaharda kistik fibrozis (KF) toplulu\u011funun enerjisi, yenili\u011fi ve kararl\u0131l\u0131\u011f\u0131yla canland\u0131. KF ara\u015ft\u0131rma ve bak\u0131m\u0131n\u0131n s\u0131n\u0131rlar\u0131n\u0131 zorlamak i\u00e7in ortak bir misyonla birle\u015fen NACFC 2025, mevcut CFTR mod\u00fclat\u00f6rlerinden yararlanmayan ve umutsuzca at\u0131l\u0131mlar bekleyen KF pop\u00fclasyonunun son 10%'sinin ya\u015famlar\u0131n\u0131 d\u00f6n\u00fc\u015ft\u00fcrebilecek terapiler ve tedaviler sunmaya haz\u0131r bilimsel yenilikleri sergiledi.\u00a0<\/span><\/p>\n

Bu enerjinin merkezinde, 24 Ekim 2025 Cuma g\u00fcn\u00fc 8. y\u0131ll\u0131k resepsiyonumuza ev sahipli\u011fi yapan Emily's Entourage (EE) vard\u0131. D\u00fcnyan\u0131n d\u00f6rt bir yan\u0131ndan 105'ten fazla KF ara\u015ft\u0131rmac\u0131s\u0131, klinisyen, biyoteknoloji lideri, ila\u00e7 temsilcisi ve toplum savunucusu, i\u015fbirli\u011fini, ba\u011flant\u0131y\u0131 ve KF toplulu\u011fu genelinde kaydedilen ilerlemeyi kutlamak i\u00e7in bir araya geldi.\u00a0<\/span><\/p>\n

\"\"

Soldan sa\u011fa: Chandra Ghose, PhD, EE Ba\u015f Bilim Sorumlusu; Batsheva Kerem, PhD, 2025 Dr. Carolyn Denning Trailblazer \u00d6d\u00fcl\u00fc sahibi; Dylan Mortimer, \u00f6d\u00fcl sanat\u00e7\u0131s\u0131 ve KF ile ya\u015fayan ki\u015fi.<\/p><\/div>\n

Bu y\u0131lki resepsiyon bir dizi nedenden dolay\u0131 \u00f6zellikle anlaml\u0131yd\u0131. Dr. Carolyn Denning Trailblazer \u00d6d\u00fcl\u00fc'n\u00fcn a\u00e7\u0131l\u0131\u015f\u0131n\u0131, CFTR geninin tan\u0131mlanmas\u0131na ve klonlanmas\u0131na yard\u0131mc\u0131 olmaktan nadir ve tedavisi zor mutasyonlar i\u00e7in yenilik\u00e7i n\u00fckleotid bazl\u0131 tedaviler geli\u015ftirmeye kadar \u00f6nc\u00fc \u00e7al\u0131\u015fmalar\u0131 KF anlay\u0131\u015f\u0131m\u0131z\u0131 d\u00f6n\u00fc\u015ft\u00fcren ve hayat de\u011fi\u015ftiren tedavilere do\u011fru yeni yollar a\u00e7an KF geneti\u011finde bir vizyoner olan Batsheva Kerem, PhD'ye sunduk. Dr. Denning'in kendisinin de KF bak\u0131m\u0131nda \u00e7\u0131\u011f\u0131r a\u00e7an \u00e7al\u0131\u015fmalar\u0131, \u015fefkatli bak\u0131m\u0131 ve bir KF doktoru ve ara\u015ft\u0131rmac\u0131s\u0131 olarak kal\u0131c\u0131 ak\u0131l hocal\u0131\u011f\u0131 ile bug\u00fcn g\u00f6rd\u00fc\u011f\u00fcm\u00fcz ilerlemenin temelini atan bir \u00f6nc\u00fc oldu\u011fu d\u00fc\u015f\u00fcn\u00fcld\u00fc\u011f\u00fcnde, yeni isimlendirilen \u00f6d\u00fcl\u00fcn Dr. Kerem'e sunulmas\u0131 \u00f6zellikle yerinde olmu\u015ftur.\u00a0<\/span><\/p>\n

Ayr\u0131ca, bu y\u0131l\u0131n \u00d6nc\u00fc \u00d6d\u00fcl\u00fc, ulusal ve uluslararas\u0131 alanda sergilenen bir sanat\u00e7\u0131 ve KF ile ya\u015fayan \u00e7ift akci\u011fer nakli al\u0131c\u0131s\u0131 Dylan Mortimer taraf\u0131ndan yarat\u0131lan ve sunulan \u00f6zel bir sanat eseriydi. Dylan'\u0131n par\u0131lt\u0131larla dolu resimleri, heykelleri ve enstalasyonlar\u0131 KF'nin ya\u015fanm\u0131\u015f deneyimini \u00e7arp\u0131c\u0131 ve k\u0131\u015fk\u0131rt\u0131c\u0131 bir \u015fekilde hayata ge\u00e7iriyor. Dylan'\u0131n \u00f6d\u00fcl\u00fc Dr. Kerem'in kendisine takdim etmesi \u00f6zellikle anlaml\u0131yd\u0131.\u00a0<\/span><\/p>\n

Gecenin ilerleyen saatlerinde EE Ba\u015f Bilimsel Sorumlusu Dr. Chandra Ghose, en son hibelerimizin yan\u0131 s\u0131ra EE'nin mevcut mod\u00fclat\u00f6rlerden faydalanamayan bireyler i\u00e7in klinik ara\u015ft\u0131rma al\u0131m\u0131n\u0131 h\u0131zland\u0131ran programlar\u0131 olan KF Klinik Ara\u015ft\u0131rma Ba\u011flant\u0131s\u0131 (CTC) ve Klinik Ara\u015ft\u0131rma E\u015fle\u015ftirme Program\u0131 hakk\u0131ndaki g\u00fcncellemeleri payla\u015ft\u0131. Bu programlar, hayat de\u011fi\u015ftiren ara\u015ft\u0131rmalar ile buna en \u00e7ok ihtiya\u00e7 duyan insanlar aras\u0131nda kritik bir k\u00f6pr\u00fc olu\u015fturmaktad\u0131r.<\/span><\/p>\n

NACFC 2025 sona erdi\u011fine g\u00f6re, en ilham verici bilimsel geli\u015fmelere bir g\u00f6z atmaktan heyecan duyuyorum - hala hayat de\u011fi\u015ftiren tedavileri bekleyen KF toplulu\u011funun son 10%'si i\u00e7in ger\u00e7ek bir ivme ve umut yaratan ilerlemeler.<\/span><\/p>\n

1. \u0130leriye Atlamak: Sa\u00e7ma Mutasyonlar i\u00e7in Yeni Bir Yakla\u015f\u0131m<\/b><\/h3>\n

Baz\u0131 mutasyonlar i\u00e7in v\u00fccudun kendi kalite kontrol sistemleri bir barikat gibi hareket ederek \u201csa\u00e7ma arac\u0131l\u0131 bozunma\u201d olarak bilinen bir s\u00fcre\u00e7te i\u015flevsel bir protein \u00fcretemeden ribon\u00fckleik asidi (RNA) yok eder. W1282X mutasyonunun yaratt\u0131\u011f\u0131 zorluk da tam olarak budur. Batsheva Kerem, PhD, bu engeli do\u011frudan ele alan bir antisens oligon\u00fckleotid (ASO) olan SPL23 \u00fczerine yapt\u0131\u011f\u0131 son \u00e7al\u0131\u015fmas\u0131n\u0131 sundu. SPL23, ekzon 23 atlamas\u0131n\u0131 te\u015fvik ederek, normalde mod\u00fclat\u00f6rlerin bu mutasyon i\u00e7in \u00e7al\u0131\u015fmas\u0131n\u0131 engelleyen sa\u00e7ma arac\u0131l\u0131 bozunma mekanizmas\u0131n\u0131 atl\u0131yor. Bir CFTR mod\u00fclat\u00f6r tedavisi ile birle\u015ftirildi\u011finde, bu yakla\u015f\u0131m CFTR protein fonksiyonunu \u00f6nemli \u00f6l\u00e7\u00fcde geri kazand\u0131rarak bir zamanlar a\u015f\u0131lamaz bir engel olan bu mutasyonun tedavisine y\u00f6nelik uygulanabilir bir yola d\u00f6n\u00fc\u015ft\u00fcr\u00fcr. Bu \u00e7al\u0131\u015fma, CFTR geninde 3849+10 kilobaz (Kb) C->T splicing mutasyonu ta\u015f\u0131yan kistik fibrozisli (KF) ki\u015filerin tedavisi i\u00e7in \u015eirketin \u00f6nc\u00fc antisens oligon\u00fckleotidi (ASO) SPL84'\u00fc de\u011ferlendiren devam eden k\u00fcresel Faz 2 \u00e7al\u0131\u015fmas\u0131 SPL84-002'ye ektir.<\/span><\/p>\n

\"\"<\/b><\/h3>\n

2. Dur \u0130\u015faretinin D\u00fczeltilmesi: G542X i\u00e7in Hedefe Y\u00f6nelik Tedavi<\/b><\/h3>\n

Sa\u00e7ma mutasyonlar erken bir dur i\u015fareti gibi davranarak tam i\u015flevsel olmayan, kesilmi\u015f protein \u00fcretimine neden olur. Andrei Korostelev, PhD -2025 Emily's Entourage Translational Research Grant al\u0131c\u0131s\u0131- readthrough antisense oligon\u00fckleotid (R-ASO) tedavisinin bu engeli a\u015fmak i\u00e7in nas\u0131l tasarland\u0131\u011f\u0131n\u0131 g\u00f6sterdi.\u00a0<\/span><\/p>\n

Zararl\u0131 yan etkilere neden olabilen geleneksel okuma yakla\u015f\u0131mlar\u0131n\u0131n aksine, R-ASO'lar hastal\u0131\u011fa neden olan erken durma kodonlar\u0131n\u0131 se\u00e7ici olarak hedeflemektedir. Ekibi G542X mutasyonuna odaklan\u0131yor ve ilk \u00e7al\u0131\u015fmalar\u0131nda tam uzunluktaki CFTR proteininin g\u00fcvenli ve etkili bir \u015fekilde geri kazan\u0131ld\u0131\u011f\u0131n\u0131 g\u00f6steriyor. Bu molek\u00fcler \u201cdur i\u015faretini\u201d ele alan R-ASO terapisi, mevcut mod\u00fclat\u00f6rlerden yararlanamayan KF'li bireyler i\u00e7in terap\u00f6tik olas\u0131l\u0131klar\u0131n \u00f6n\u00fcn\u00fc a\u00e7\u0131yor.\u00a0<\/span><\/p>\n

<\/h3>\n

3. KF Geninin Yeniden Yaz\u0131lmas\u0131: Akci\u011fer K\u00f6k H\u00fccreleri i\u00e7in Tam Bir \u0130kame<\/b><\/h3>\n

Hatal\u0131 bir genetik kullan\u0131m k\u0131lavuzunu kayna\u011f\u0131nda yeniden yazabildi\u011finizi hayal edin! Bu art\u0131k sadece bir hayal de\u011fil; Sriram Vaidyanathan, PhD'nin CRISPR-Cas9 kullanarak hava yolu k\u00f6k h\u00fccrelerindeki CFTR geninin tamam\u0131n\u0131 de\u011fi\u015ftirme \u00e7al\u0131\u015fmas\u0131n\u0131n arkas\u0131ndaki ilke bu.\u00a0<\/span><\/p>\n

Ekibi, h\u00fccrelerin DNA'y\u0131 nas\u0131l onard\u0131\u011f\u0131n\u0131 mod\u00fcle ederek, viral tabanl\u0131 iletimin ba\u015far\u0131s\u0131n\u0131 \u00f6nemli \u00f6l\u00e7\u00fcde art\u0131r\u0131rken, viral olmayan yakla\u015f\u0131mlar\u0131n hen\u00fcz tam olarak anla\u015f\u0131lmam\u0131\u015f h\u00fccresel mekanizmalar nedeniyle daha az etkili oldu\u011funu g\u00f6stermi\u015ftir. Bu ara\u015ft\u0131rma, uzun s\u00fcreli, mutasyon tan\u0131l\u0131 bir tedavi olas\u0131l\u0131\u011f\u0131n\u0131 ger\u00e7e\u011fe yakla\u015ft\u0131rarak, son 10% de dahil olmak \u00fczere t\u00fcm KF'li insanlar i\u00e7in umut sunuyor.<\/span><\/p>\n

\"\"4. Evrensel Bir \u00c7\u00f6z\u00fcm: Lentiviral Gen Terapisi \u0130nsanlara Ta\u015f\u0131n\u0131yor<\/b><\/h3>\n

Fonksiyonel bir genin akci\u011ferlere ula\u015ft\u0131r\u0131lmas\u0131 ve kal\u0131c\u0131 hale getirilmesi, KF terap\u00f6tik da\u011f\u0131t\u0131m\u0131nda uzun s\u00fcredir devam eden bir engeldir. Jane Davies, MB Chb, tam uzunlukta CFTR geni ta\u015f\u0131yan \u00fc\u00e7\u00fcnc\u00fc nesil bir vekt\u00f6r kullanarak lentiviral gen terapisi hakk\u0131nda bir g\u00fcncelleme yapt\u0131.\u00a0<\/span><\/p>\n

Halihaz\u0131rda ilk insan klinik deneylerinde olan bu mutasyon-agnostik yakla\u015f\u0131m, farkl\u0131 KF mutasyonlar\u0131 aras\u0131nda etkili, uzun s\u00fcreli gen ifadesi sa\u011flamak \u00fczere tasarlanm\u0131\u015ft\u0131r. CFTR geninin \u00e7al\u0131\u015fan bir kopyas\u0131n\u0131 akci\u011fer h\u00fccrelerine etkili bir \u015fekilde \u201cyerle\u015ftiren\u201d bu terapi, hastal\u0131\u011f\u0131n k\u00f6kenini ele al\u0131r ve yaln\u0131zca mevcut mod\u00fclat\u00f6rlerden fayda g\u00f6rmeyenler i\u00e7in de\u011fil, mutasyonlar\u0131ndan ba\u011f\u0131ms\u0131z olarak KF'li herkes i\u00e7in potansiyel olarak \u201ciyile\u015ftirici\u201d olabilir.<\/span><\/p>\n

Final 10% i\u00e7in Bu Neden \u00d6nemli?<\/b><\/h3>\n

NACFC 2025'teki her i\u00e7g\u00f6r\u00fc, her konu\u015fma ve her bulu\u015f bizi KF hastal\u0131\u011f\u0131n\u0131n herkes i\u00e7in ortadan kald\u0131r\u0131labilece\u011fi bir gelece\u011fe yakla\u015ft\u0131r\u0131yor. H\u00e2l\u00e2 hayat kurtaran tedavileri bekleyen son 10% i\u00e7in bu gelecek \u00f6zellikle aciliyet arz ediyor. EE'deki tek odak noktam\u0131z, son 10%'nin merkezi olarak hizmet vererek - ba\u011flant\u0131lar kurmak ve kritik finansman, liderlik, klinik geli\u015ftirme deste\u011fi ve g\u00fc\u00e7l\u00fc, sars\u0131lmaz temsil ve savunuculuk sa\u011flayarak - bunun m\u00fcmk\u00fcn oldu\u011funca h\u0131zl\u0131 ger\u00e7ekle\u015fmesini sa\u011flamakt\u0131r.\u00a0<\/span><\/p>\n

Ara\u015ft\u0131rmac\u0131lardan klinisyenlere, savunuculardan topluluk \u00fcyelerine kadar deneyimledi\u011fimiz enerji, azim ve i\u015fbirli\u011fi ruhu KF toplulu\u011funun kalbini yakalad\u0131. Seattle'da at\u0131l\u0131mlar\u0131 kutlamak, cesur fikirleri ate\u015flemek ve hayat de\u011fi\u015ftiren bir sonraki yenilik dalgas\u0131n\u0131 ilerletmek i\u00e7in bir araya gelen herkese son derece minnettar\u0131z. Yeterince yak\u0131n zamanda gelemez!<\/span><\/p>\n

EE olarak misyonumuzda durmaks\u0131z\u0131n ilerliyoruz: ara\u015ft\u0131rmalar\u0131 h\u0131zland\u0131rmak, son 10%'de olanlar\u0131 desteklemek ve KF'nin art\u0131k kimsenin hikayesinin bir par\u00e7as\u0131 olmad\u0131\u011f\u0131 bir g\u00fcne do\u011fru ilerlemek. Biti\u015f \u00e7izgisi g\u00f6r\u00fcnd\u00fc ve sahip oldu\u011fumuz her \u015feyle ona do\u011fru yar\u0131\u015f\u0131yoruz.<\/span><\/p>\n

\"\"<\/p>","protected":false},"excerpt":{"rendered":"

Yazan Chandra Ghose, PhD, Emily's Entourage Ba\u015f Bilim Sorumlusu Puget Sound'un puslu k\u0131y\u0131lar\u0131ndan kongre merkezinin u\u011fultulu salonlar\u0131na kadar Seattle bu sonbaharda kistik fibrozis (KF) toplulu\u011funun enerjisi, yenilik\u00e7ili\u011fi ve kararl\u0131l\u0131\u011f\u0131yla canland\u0131. KF ara\u015ft\u0131rmalar\u0131n\u0131n s\u0131n\u0131rlar\u0131n\u0131 zorlamak i\u00e7in ortak bir misyonla birle\u015fen... <\/p>\n

<\/div>\n

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