{"id":18878,"date":"2023-04-26T12:15:37","date_gmt":"2023-04-26T16:15:37","guid":{"rendered":"https:\/\/www.emilysentourage.org\/?p=18878"},"modified":"2023-04-27T09:17:22","modified_gmt":"2023-04-27T13:17:22","slug":"ee-attends-the-18th-ecfs-basic-science-conference","status":"publish","type":"post","link":"https:\/\/www.emilysentourage.org\/tr\/ee-attends-the-18th-ecfs-basic-science-conference\/","title":{"rendered":"EE 18. ECFS Temel Bilimler Konferans\u0131na Kat\u0131ld\u0131"},"content":{"rendered":"<p style=\"text-align: justify;\"><span style=\"font-weight: 400;\">Ge\u00e7ti\u011fimiz ay Emily's Entourage'\u0131n (EE) Ba\u015f Bilim Sorumlusu Chandra Ghose, PhD, 29 Mart - 1 Nisan 2023 tarihleri aras\u0131nda H\u0131rvatistan'\u0131n Dubrovnik kentinde d\u00fczenlenen 18. Avrupa Kistik Fibrozis Derne\u011fi (ECFS) Temel Bilim Konferans\u0131'na kat\u0131lmak \u00fczere seyahat etti. D\u00fcnyan\u0131n d\u00f6rt bir yan\u0131ndan bilim insanlar\u0131n\u0131 bir araya getiren konferans, i\u015fbirli\u011fine dayal\u0131, samimi bir ortamda son teknoloji bilim \u00fczerine son derece etkile\u015fimli ve derinlemesine tart\u0131\u015fmalar i\u00e7in bir platform sa\u011fl\u0131yor. <\/span><\/p>\n<p style=\"text-align: justify;\"><img fetchpriority=\"high\" decoding=\"async\" class=\"alignnone wp-image-18882 size-full\" src=\"https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Basic-cience-Conference.png\" alt=\"\" width=\"1407\" height=\"446\" srcset=\"https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Basic-cience-Conference.png 1407w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Basic-cience-Conference-300x95.png 300w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Basic-cience-Conference-1024x325.png 1024w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Basic-cience-Conference-768x243.png 768w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Basic-cience-Conference-18x6.png 18w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Basic-cience-Conference-600x190.png 600w\" sizes=\"(max-width: 1407px) 100vw, 1407px\" \/><\/p>\n<p style=\"text-align: justify;\"><span style=\"font-weight: 400;\">Dr. Ghose konferansa en son ara\u015ft\u0131rmalar\u0131 dinlemek, yeni ve muhtemel bilimsel i\u015fbirlik\u00e7ilerle tan\u0131\u015fmak ve bu uluslararas\u0131 ortamda EE'yi ve mevcut mutasyon hedefli tedavilerden yararlanamayan KF toplulu\u011funun son 10%'sini temsil etmek i\u00e7in kat\u0131ld\u0131.\u00a0<\/span><\/p>\n<p style=\"text-align: justify;\"><span style=\"font-weight: 400;\">Bunu ak\u0131lda tutarak, baz\u0131lar\u0131n\u0131 payla\u015fmaktan heyecan duyuyoruz<\/span><span style=\"font-weight: 400;\"> Chandra'n\u0131n konferanstaki son 10% i\u00e7in \u00e7\u0131kar\u0131mlar\u0131n\u0131 sizlerle payla\u015f\u0131yoruz!<\/span><\/p>\n<p>KF'li ki\u015filerin son 10%'sinin ihtiya\u00e7lar\u0131n\u0131 kar\u015f\u0131lama potansiyeline sahip gen temelli terap\u00f6tik yakla\u015f\u0131mlar, bu y\u0131lki konferans\u0131n ana odak noktas\u0131yd\u0131. KU Leuven'den Dr. Marianne Carlon, Frans\u0131z Sa\u011fl\u0131k ve T\u0131bbi Ara\u015ft\u0131rma Enstit\u00fcs\u00fc'nden (Inserm) Dr. Olivier Tabary ve University College London'dan Dr. Graham Hart'\u0131n konu\u015fmalar\u0131nda gen temelli tedavi yakla\u015f\u0131mlar\u0131n\u0131n umut verici sonu\u00e7lar\u0131 vurguland\u0131.<\/p>\n<ul>\n<li>Dr. Carlon'un sunumu, CFTR'nin splicing ve nonsense mutasyonlar\u0131n\u0131 d\u00fczeltmek i\u00e7in baz ve prime d\u00fczenleme (PE) kullanman\u0131n heyecan verici olas\u0131l\u0131\u011f\u0131n\u0131 vurgulad\u0131. 2022 EE hibe al\u0131c\u0131s\u0131 olan Dr. Carlon, CFTR geninde yayg\u0131n, ciddi, hastal\u0131\u011fa neden olan mutasyonlardan biri olan ve CFTR proteininin ge\u00e7it anormalliklerine neden olan ilaca diren\u00e7li CFTR mutasyonu N1303K i\u00e7in bir PE stratejisi geli\u015ftirmek i\u00e7in \u00e7al\u0131\u015f\u0131yor. \u00c7al\u0131\u015fmalar\u0131, verimlili\u011fi g\u00fcvenlik ve teslimat kolayl\u0131\u011f\u0131 ile dengelemek i\u00e7in en uygun gen d\u00fczenleme sistemini tan\u0131mlamay\u0131 ama\u00e7lamaktad\u0131r. Bu, \u015fu anda mevcut tedavilerden yararlanamayan KF'li insanlara ula\u015fmada \u00f6nemli bir rol oynayabilecek yeni bir yakla\u015f\u0131m\u0131 temsil ediyor.<\/li>\n<li>Dr. Tabary'nin stratejisi, t\u00fcm CFTR mutasyonlar\u0131n\u0131 potansiyel olarak tedavi etmek i\u00e7in h\u00fccrelerdeki tuz klor\u00fcr dengesinin d\u00fczenlenmesinde rol oynayabilecek bir iyon kanal\u0131 olan TMEM16A'y\u0131 hedefleyen antisens oligon\u00fckleotidleri (ASO'lar) kullan\u0131yor. CFTR akci\u011ferlerdeki ana klor\u00fcr kanal\u0131 olmas\u0131na ra\u011fmen, TMEM16A da dahil olmak \u00fczere di\u011ferleri CFTR eksikli\u011finin telafi edilmesinde rol oynamaktad\u0131r. Farelerde kilo al\u0131m\u0131 ve yakla\u015f\u0131k 200 g\u00fcne kadar hayatta kalma ile sonu\u00e7lanan in vivo \u00e7al\u0131\u015fmalar\u0131 vurgulayarak, bu tedavi yakla\u015f\u0131m\u0131 i\u00e7in erken ancak umut verici veriler ortaya koymu\u015ftur.<\/li>\n<li>Dr. Hart'\u0131n sunumu, laboratuvar\u0131n\u0131n anyonik lipid nanopartik\u00fcller (LNP'ler) i\u00e7inde paketlenmi\u015f mesajc\u0131 RNA (mRNA) kullanarak yapt\u0131\u011f\u0131 \u00e7al\u0131\u015fmay\u0131 anlatmaktad\u0131r. Bu teknoloji birka\u00e7 nedenden dolay\u0131 heyecan vericidir. mRNA tabanl\u0131 terapi, h\u00fccrelere do\u011fru genetik talimatlar\u0131 ileterek ki\u015finin kendi h\u00fccrelerinin KF mutasyonlar\u0131ndan ba\u011f\u0131ms\u0131z olarak i\u015flevsel CFTR proteini yapmas\u0131na olanak sa\u011flamay\u0131 ama\u00e7lamaktad\u0131r. Bu terapiler, KF'li ki\u015filerin akci\u011ferlerindeki kal\u0131n mukus tabakas\u0131n\u0131 k\u0131rma potansiyeline sahip g\u00fc\u00e7l\u00fc LNP'lerin i\u00e7inde verilir.<\/li>\n<\/ul>\n<p style=\"text-align: justify;\"><img decoding=\"async\" class=\"aligncenter wp-image-18883\" src=\"https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Chandra-ECFS-1024x768.jpg\" alt=\"\" width=\"650\" height=\"488\" srcset=\"https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Chandra-ECFS-1024x768.jpg 1024w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Chandra-ECFS-300x225.jpg 300w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Chandra-ECFS-768x576.jpg 768w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Chandra-ECFS-16x12.jpg 16w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Chandra-ECFS-400x300.jpg 400w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Chandra-ECFS-600x450.jpg 600w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/Chandra-ECFS.jpg 1170w\" sizes=\"(max-width: 650px) 100vw, 650px\" \/><\/p>\n<p style=\"text-align: justify;\"><span style=\"font-weight: 400;\">Bu konu\u015fmalar, son y\u0131llarda 10% ile ilgili (ve heyecan verici!) kaydedilen ilerlemelerin alt\u0131n\u0131 \u00e7izmi\u015ftir. Buna ek olarak, gen terapisindeki \u00f6nemli geli\u015fmeler, kal\u0131tsal retina bozuklu\u011fu ve spinal musk\u00fcler atrofi (SMA) dahil olmak \u00fczere bir dizi ba\u015fka hastal\u0131k i\u00e7in FDA onayl\u0131 tedavilere yol a\u00e7m\u0131\u015ft\u0131r. Di\u011fer hastal\u0131klardaki ilerlemeler, KF i\u00e7in de \u00f6nemli sonu\u00e7lar do\u011furarak t\u00fcm alan\u0131 ileriye ta\u015f\u0131maktad\u0131r. Gen temelli yakla\u015f\u0131mlar\u0131n potansiyeli konusunda bu kadar heyecan varken, bu g\u00fcncellemelerin KF'de ger\u00e7ek ve somut ilerleme sa\u011flad\u0131\u011f\u0131n\u0131 duymak bizi \u00e7ok heyecanland\u0131rd\u0131.<\/span><\/p>\n<p style=\"text-align: justify;\"><span style=\"font-weight: 400;\">Yale \u00dcniversitesi'nden Dr. Marie Egan'\u0131n a\u00e7\u0131l\u0131\u015f konu\u015fmas\u0131nda ve Recode Therapeutics'ten Dr. Daniella Ishimaru'nun PhD'sinde tart\u0131\u015ft\u0131\u011f\u0131 gibi, bu gen bazl\u0131 tedavilerin vaatlerine ra\u011fmen, da\u011f\u0131t\u0131m \u00f6nemli bir engel olmaya devam etmektedir. Her iki konu\u015fmac\u0131 da gen bazl\u0131 tedaviler i\u00e7in etkili da\u011f\u0131t\u0131m y\u00f6ntemlerinin geli\u015ftirilmesindeki ilerlemeler hakk\u0131nda g\u00fcncel bilgiler verdi. Dr. Egan, laboratuvar\u0131n\u0131n peptit n\u00fckleik asit (PNA) iletim platformlar\u0131 \u00fczerindeki \u00e7al\u0131\u015fmalar\u0131n\u0131 payla\u015ft\u0131. <\/span><span style=\"font-weight: 400;\">PNA'lar, n\u00fckleik asitlere daha da g\u00fc\u00e7l\u00fc bir \u015fekilde ba\u011flanan ve DNA veya RNA'y\u0131 hedef alan enzimler taraf\u0131ndan v\u00fccutta par\u00e7alanmayan sentetik DNA benzeri molek\u00fcllerdir. Bu nitelikleri onlar\u0131 genleri susturmay\u0131 veya d\u00fczenlemeyi ama\u00e7layan g\u00fc\u00e7l\u00fc terap\u00f6tikler haline getirir.<\/span><span style=\"font-weight: 400;\"> Dr. Egan'\u0131n fareler \u00fczerinde yapt\u0131\u011f\u0131 \u00e7al\u0131\u015fmalar, CFTR i\u015flevinin k\u0131smen kazan\u0131lmas\u0131yla sonu\u00e7lanm\u0131\u015f ve erken umut vaat etmi\u015ftir.\u00a0\u00a0\u00a0<\/span><\/p>\n<p style=\"text-align: justify;\"><img decoding=\"async\" class=\"aligncenter wp-image-18885\" src=\"https:\/\/www.emilysentourage.org\/wp-content\/uploads\/ECFS-Conference-2-1024x768.jpg\" alt=\"\" width=\"650\" height=\"488\" srcset=\"https:\/\/www.emilysentourage.org\/wp-content\/uploads\/ECFS-Conference-2-1024x768.jpg 1024w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/ECFS-Conference-2-300x225.jpg 300w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/ECFS-Conference-2-768x576.jpg 768w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/ECFS-Conference-2-16x12.jpg 16w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/ECFS-Conference-2-400x300.jpg 400w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/ECFS-Conference-2-600x450.jpg 600w, https:\/\/www.emilysentourage.org\/wp-content\/uploads\/ECFS-Conference-2.jpg 1170w\" sizes=\"(max-width: 650px) 100vw, 650px\" \/><\/p>\n<p style=\"text-align: justify;\"><span style=\"font-weight: 400;\">Dr. Ishimaru, farkl\u0131 CFTR genotiplerine sahip hastalardan t\u00fcretilen birincil insan bron\u015f epitel h\u00fccrelerine LNP'lerde paketlenmi\u015f mRNA ileterek CFTR i\u015flevini kurtarma yetene\u011fini g\u00f6steren heyecan verici yeni veriler sundu. Bu sunumlar\u0131n her ikisi de, ara\u015ft\u0131rma h\u00fccrelerdeki (in vitro) tezgahtan hayvanlara (in vivo) ve daha sonra klinik \u00f6ncesi geli\u015ftirme a\u015famas\u0131na ve nihayetinde KF'li insanlara ge\u00e7erken kaydedilen ilerlemeyi vurgulamaktad\u0131r<\/span><\/p>\n<p style=\"text-align: justify;\"><span style=\"font-weight: 400;\">Konferans\u0131n bir di\u011fer \u00f6nemli noktas\u0131 da AbbVie'den Dr. Justin Ideozu'nun Avrupa k\u00f6kenli insanlarla yayg\u0131n olarak ili\u015fkilendirilenlerin \u00f6tesinde CFTR varyantlar\u0131n\u0131n pan-etnik karakterizasyonu \u00fczerine yapt\u0131\u011f\u0131 sunumdu. \u00c7al\u0131\u015fma, Afrika, Amerika, Avrupa, Orta Do\u011fu, Orta G\u00fcney Asya ve Do\u011fu Asya k\u00f6kenli ki\u015filerde, bir\u00e7o\u011fu KF'de hi\u00e7 rapor edilmemi\u015f olan 4.000'den fazla CFTR varyant\u0131n\u0131n tespit edildi\u011fini ortaya koydu. Bu bulgu, d\u00fcnya \u00e7ap\u0131nda te\u015fhis edilmemi\u015f ve \u015fu anda onaylanm\u0131\u015f tedavilerden yararlanamayan \u00f6nemli \u00f6l\u00e7\u00fcde daha fazla KF'li insan oldu\u011funu g\u00f6stermektedir.\u00a0<\/span><\/p>\n<p style=\"text-align: justify;\"><span style=\"font-weight: 400;\">Yenilik\u00e7i ara\u015ft\u0131rmalara \u00f6nc\u00fcl\u00fck eden bilim insanlar\u0131 ve hekimlerin kararl\u0131l\u0131\u011f\u0131 ECFS'de \u00f6n plandayd\u0131. Bu g\u00fcncellemelerle yeniden canlanan ve her zaman bilim ve veri odakl\u0131 olan EE, bu terap\u00f6tikleri m\u00fcmk\u00fcn olan en k\u0131sa s\u00fcrede ger\u00e7e\u011fe d\u00f6n\u00fc\u015ft\u00fcrmek i\u00e7in bilimsel i\u015fbirli\u011fini, ara\u015ft\u0131rma ve ila\u00e7 geli\u015ftirmeyi ilerletmeye kararl\u0131d\u0131r. <\/span><\/p>","protected":false},"excerpt":{"rendered":"<p>Ge\u00e7ti\u011fimiz ay Emily's Entourage'\u0131n (EE) Ba\u015f Bilim Sorumlusu Chandra Ghose, PhD, 29 Mart - 1 Nisan 2023 tarihleri aras\u0131nda H\u0131rvatistan'\u0131n Dubrovnik kentinde d\u00fczenlenen 18. Avrupa Kistik Fibrozis Derne\u011fi (ECFS) Temel Bilim Konferans\u0131'na kat\u0131lmak \u00fczere seyahat etti. D\u00fcnyan\u0131n d\u00f6rt bir yan\u0131ndan bilim insanlar\u0131n\u0131 bir araya getiren konferans, en son geli\u015fmeler hakk\u0131nda son derece interaktif ve derinlemesine tart\u0131\u015fmalar i\u00e7in bir platform... <\/p>\n<div class=\"clear\"><\/div>\n<p><a href=\"https:\/\/www.emilysentourage.org\/tr\/ee-attends-the-18th-ecfs-basic-science-conference\/\" class=\"excerpt-read-more\">Daha fazla bilgi edinin<\/a><\/p>","protected":false},"author":1361,"featured_media":18882,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_seopress_robots_primary_cat":"none","_seopress_titles_title":"%%sitetitle%% %%sep%% %%post_title%%","_seopress_titles_desc":"%%post_excerpt%%","_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-18878","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\/Basic-cience-Conference.png","jetpack_sharing_enabled":true,"post_mailing_queue_ids":[],"_links":{"self":[{"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts\/18878","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=18878"}],"version-history":[{"count":5,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts\/18878\/revisions"}],"predecessor-version":[{"id":18887,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/posts\/18878\/revisions\/18887"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/media\/18882"}],"wp:attachment":[{"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/media?parent=18878"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/categories?post=18878"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.emilysentourage.org\/tr\/wp-json\/wp\/v2\/tags?post=18878"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}