D\u00fcnyan\u0131n farkl\u0131 \u00fclkelerinde ayn\u0131 nadir hastal\u0131kla m\u00fccadele eden 17 \u00e7ocuk ve aileleri, ortak bir umut i\u00e7in \u0130stanbul’da bulu\u015ftu. T\u00fcrkiye, \u0130talya, \u0130svi\u00e7re, Almanya, Avustralya, ABD, \u0130rlanda, Finlandiya, \u00c7in ve Malezya’dan gelen aileler, \u00e7ocuklar\u0131n\u0131n ya\u015fad\u0131\u011f\u0131 zorluklar\u0131 bilim insanlar\u0131yla payla\u015f\u0131rken, hastal\u0131\u011f\u0131n daha iyi anla\u015f\u0131lmas\u0131 ve gelecekteki tedavi ara\u015ft\u0131rmalar\u0131na zemin haz\u0131rlanmas\u0131 i\u00e7in \u00f6nemli bir uluslararas\u0131 bulu\u015fmaya kat\u0131ld\u0131.<\/p>\n
HERDEM \u00c7are- TBL1XR1 Ara\u015ft\u0131rma ve Destek Derne\u011fi \u00f6nc\u00fcl\u00fc\u011f\u00fcnde, Ac\u0131badem \u00dcniversitesi Maslak Hastanesi ev sahipli\u011finde d\u00fczenlenen 1. Uluslararas\u0131 TBL1XR1 Bilimsel Konferans\u0131 ve 2. TBL1XR1 K\u00fcresel Aile Forumu, d\u00f6rt k\u0131tadan bilim insanlar\u0131n\u0131, klinisyenleri ve aileleri bir araya getirdi. D\u00fcnyada ilk kez TBL1XR1’e odaklanan uluslararas\u0131 bilimsel konferansta, genetik ara\u015ft\u0131rmalardan beyin organoidlerine, genom d\u00fczenlemeden gelecekteki gen tedavisi yakla\u015f\u0131mlar\u0131na kadar pek \u00e7ok bilimsel \u00e7al\u0131\u015fma ele al\u0131nd\u0131.<\/p>\n
\u00c7ocuklar\u0131n g\u00fcnl\u00fck ya\u015famda kar\u015f\u0131la\u015ft\u0131klar\u0131 epilepsi, ileti\u015fim, beslenme, hareketlilik, davran\u0131\u015f, uyku ve e\u011fitim sorunlar\u0131 uzmanlarla birlikte de\u011ferlendirildi. Ailelerin deneyimleri, hastal\u0131\u011f\u0131n do\u011fal seyrinin anla\u015f\u0131lmas\u0131 ve bilimsel ara\u015ft\u0131rmalar\u0131n \u00f6nceliklerinin belirlenmesi a\u00e7\u0131s\u0131ndan \u00f6nemli bir kaynak olu\u015fturdu<\/p>\n
HARVARD’LI PROFES\u00d6R: \u015e\u0130MD\u0130 TEDAV\u0130YE Y\u00d6NEL\u0130K ADAYLARI TEST ETMEL\u0130Y\u0130Z<\/p>\n
Konferans\u0131n bilimsel \u00e7al\u0131\u015fmalar\u0131na \u00f6nc\u00fcl\u00fck eden Harvard T\u0131p Fak\u00fcltesi ve Massachusetts General Hospital’dan Prof. Dr. Florian Eichler, TBL1XR1 ara\u015ft\u0131rmalar\u0131nda geli\u015ftirilen modellerin \u00f6nemine dikkat \u00e7ekti. Eichler, “Ara\u015ft\u0131rma ara\u00e7lar\u0131na sahibiz ve do\u011fru modelleri h\u0131zla geli\u015ftiriyoruz. \u015eimdi aday bile\u015fikleri test etmemiz, etkilerini \u00f6l\u00e7memiz ve anlaml\u0131 tedavilere do\u011fru ilerlememiz gerekiyor” dedi.<\/p>\n
TBL1XR1’e \u00f6zg\u00fc, insanlarda denenmeye haz\u0131r bir tedavi hen\u00fcz bulunmazken, bilim insanlar\u0131 genetik ara\u015ft\u0131rmalar, hasta h\u00fccreleri, beyin organoidleri ve genom d\u00fczenleme teknolojilerinin gelecekteki tedavi yakla\u015f\u0131mlar\u0131 i\u00e7in \u00f6nemli f\u0131rsatlar sundu\u011funu de\u011ferlendirdi.<\/p>\n
\u00c7in Minzu \u00dcniversitesi Translasyonel N\u00f6robilim Merkezi’nden Prof. Dr. Yong Cheng, TBL1XR1 fare modelleri \u00fczerinde y\u00fcr\u00fct\u00fclen klinik \u00f6ncesi ara\u015ft\u0131rmalar\u0131 payla\u015f\u0131rken, Almanya Ulm \u00dcniversitesi’nden Prof. Dr. Anna-Katharina Rohlfs hastal\u0131kta g\u00f6r\u00fclebilen konu\u015fma ve ileti\u015fim g\u00fc\u00e7l\u00fckleri ile destekleyici ileti\u015fim y\u00f6ntemlerine dikkat \u00e7ekti.<\/p>\n
“\u00c7OCUKLARIMIZA D\u00dcNYAYI ANLATACAKTIK, D\u00dcNYAYA \u00c7OCUKLARIMIZI ANLATIYORUZ”<\/p>\n
HERDEM \u00c7are Kurucusu ve Y\u00f6netim Kurulu Ba\u015fkan\u0131 Dr. Ay\u015feg\u00fcl Alt\u0131nba\u015f, ailelerin bireysel m\u00fccadelesinin uluslararas\u0131 bilimsel i\u015f birli\u011fine d\u00f6n\u00fc\u015fmesinin \u00f6nemine dikkat \u00e7ekti.<\/p>\n
Alt\u0131nba\u015f, “\u00c7ocuklar\u0131m\u0131za d\u00fcnyay\u0131 anlatmay\u0131 hayal ederken, kendimizi d\u00fcnyaya \u00e7ocuklar\u0131m\u0131z\u0131 anlat\u0131rken buluyoruz. \u00d6nce \u00e7ocuklar\u0131m\u0131z\u0131n sesini duyurmaya \u00e7al\u0131\u015ft\u0131k. Sonra ba\u015fka ailelere ula\u015ft\u0131k ve yaln\u0131z olmad\u0131\u011f\u0131m\u0131z\u0131 g\u00f6rd\u00fck. Sonra bu sesi bilime ta\u015f\u0131d\u0131k. \u00c7\u00fcnk\u00fc aileler ara\u015ft\u0131rman\u0131n yaln\u0131zca konusu de\u011fil, orta\u011f\u0131d\u0131r” diye konu\u015ftu.<\/p>\n
TBL1XR1 i\u00e7in olu\u015fturulan ara\u015ft\u0131rma modelinin ba\u015fka nadir hastal\u0131klara da \u00f6rnek olmas\u0131n\u0131 hedeflediklerini belirten Alt\u0131nba\u015f, “TBL1XR1 bizim i\u00e7in bir ba\u015flang\u0131\u00e7 noktas\u0131. Burada olu\u015facak bilgi, ara\u015ft\u0131rma altyap\u0131s\u0131 ve uluslararas\u0131 i\u015f birliklerinin ba\u015fka nadir hastal\u0131k topluluklar\u0131na da katk\u0131 sa\u011flamas\u0131 i\u00e7in \u00e7al\u0131\u015f\u0131yoruz. \u00c7\u00fcnk\u00fc ger\u00e7ek ilerleme, bir \u00e7ocuk i\u00e7in ba\u015flayan \u00e7aban\u0131n ba\u015fka \u00e7ocuklar\u0131n ve ailelerin hayat\u0131na da dokunabilmesidir” dedi.<\/p>\n
TEDAV\u0130 ARA\u015eTIRMALARINA G\u0130DEN YOLDA D\u00d6RT KR\u0130T\u0130K ADIM<\/p>\n
Beyin geli\u015fimi ve i\u015fleyi\u015finde \u00f6nemli rol oynayan TBL1XR1 genindeki hastal\u0131kla ili\u015fkili de\u011fi\u015fiklikler, farkl\u0131 n\u00f6rogeli\u015fimsel sorunlara yol a\u00e7abiliyor. Bilim insanlar\u0131, genin i\u015flevinin ve hastal\u0131k mekanizmalar\u0131n\u0131n anla\u015f\u0131lmas\u0131n\u0131n yaln\u0131zca TBL1XR1 i\u00e7in de\u011fil, ba\u015fka nadir ve n\u00f6rogeli\u015fimsel hastal\u0131klar\u0131n ara\u015ft\u0131r\u0131lmas\u0131 a\u00e7\u0131s\u0131ndan da \u00f6nem ta\u015f\u0131d\u0131\u011f\u0131n\u0131 vurguluyor.<\/p>\n
Konferansta gelecekteki tedavi ara\u015ft\u0131rmalar\u0131na haz\u0131rl\u0131k i\u00e7in d\u00f6rt temel \u00f6ncelik belirlendi. Bunlar; d\u00fcnya genelindeki hastalar\u0131 kapsayan ortak bir kay\u0131t sistemi olu\u015fturulmas\u0131, hastal\u0131\u011f\u0131n zaman i\u00e7indeki geli\u015fimini inceleyecek 36 ayl\u0131k do\u011fal seyir \u00e7al\u0131\u015fmas\u0131 y\u00fcr\u00fct\u00fclmesi, genetik de\u011fi\u015fikliklerle klinik bulgular aras\u0131ndaki ili\u015fkinin ortaya konulmas\u0131 ve gelecekteki klinik ara\u015ft\u0131rmalara haz\u0131rl\u0131k yap\u0131lmas\u0131 olarak s\u0131raland\u0131.<\/p>\n
Program sonunda haz\u0131rlanan Sonu\u00e7 Bildirgesi ile do\u011fal seyir ara\u015ft\u0131rmalar\u0131, ortak veri toplama, hasta kay\u0131tlar\u0131, biyolojik \u00f6rnekler ve uluslararas\u0131 bilimsel i\u015f birli\u011fi alanlar\u0131nda iki \u00e7al\u0131\u015fma grubu olu\u015fturuldu. B\u00f6ylece \u0130stanbul’da belirlenen bilimsel hedeflerin s\u00fcrd\u00fcr\u00fclebilir ara\u015ft\u0131rma \u00e7al\u0131\u015fmalar\u0131na d\u00f6n\u00fc\u015ft\u00fcr\u00fclmesi i\u00e7in somut ad\u0131mlar at\u0131ld\u0131.<\/p>\n
\u00a0<\/p>\n
T\u00dcRK\u0130YE’DEN ULUSLARARASI NAD\u0130R HASTALIK ARA\u015eTIRMALARINA KATKI<\/p>\n
Konferans, T.C. Sa\u011fl\u0131k Bakanl\u0131\u011f\u0131 nezdinde T\u00dcSEB, Ac\u0131badem \u00dcniversitesi, Alt\u0131nba\u015f \u00dcniversitesi ve HERDEM \u00c7are aras\u0131nda imzalanan Nadir Hastal\u0131klar \u0130\u015f Birli\u011fi Protokol\u00fc kapsam\u0131nda ba\u015flat\u0131lan \u00e7al\u0131\u015fmalar\u0131n uluslararas\u0131 boyuta ta\u015f\u0131nmas\u0131 a\u00e7\u0131s\u0131ndan da \u00f6nem ta\u015f\u0131d\u0131.<\/p>\n
Bilimsel programa Ac\u0131badem \u00dcniversitesi Nadir Hastal\u0131klar ve Yetim \u0130la\u00e7lar Uygulama ve Ara\u015ft\u0131rma Merkezi Direkt\u00f6r\u00fc Prof. Dr. Yasemin Alanay, \u0130stinye \u00dcniversitesi’nden Prof. Dr. Tun\u00e7 F\u0131\u015fg\u0131n, \u0130zmir Biyot\u0131p ve Genom Merkezi’nden Prof. Dr. U\u011fur \u00d6zbek, Dokuz Eyl\u00fcl \u00dcniversitesi’nden Prof. Dr. Semra H\u0131z Kurul, \u0130zmir K\u00e2tip \u00c7elebi \u00dcniversitesi’nden Prof. Dr. P\u0131nar Gen\u00e7p\u0131nar, Ac\u0131badem ve Yale \u00dcniversitelerinden Do\u00e7. Dr. Kaya Bilg\u00fcvar, \u0130stanbul \u00dcniversitesi Aziz Sancar Deneysel T\u0131p Ara\u015ft\u0131rma Enstit\u00fcs\u00fc’nden Do\u00e7. Dr. Feyza Nur Tuncer K\u0131l\u0131n\u00e7, Marmara \u00dcniversitesi ve Yale \u00dcniversitesi’nden Prof. Dr. Yank\u0131 Yazgan ile Alt\u0131nba\u015f \u00dcniversitesi’nden Dr. \u00d6\u011fr. \u00dcyesi T\u00fcrkan Uygur \u015eahin katk\u0131 sundu.<\/p>\n
Konferans\u0131n a\u00e7\u0131l\u0131\u015f\u0131na \u0130stanbul Vali Yard\u0131mc\u0131s\u0131 Hasan G\u00f6zen, T\u00dcSEB T\u00fcrkiye Anne, \u00c7ocuk ve Ergen Sa\u011fl\u0131\u011f\u0131 Enstit\u00fcs\u00fc Ba\u015fkan\u0131 Prof. Dr. \u015eirin G\u00fcven, T\u00dcB\u0130TAK MAM Ba\u015fkan\u0131 Prof. Dr. Burcu \u00d6zsoy, Ac\u0131badem \u00dcniversitesi Rekt\u00f6r Yard\u0131mc\u0131s\u0131 Prof. Dr. G\u00fcldal S\u00fcyen, Alt\u0131nba\u015f \u00dcniversitesi Rekt\u00f6r\u00fc Prof. Dr. Cemal \u0130bi\u015f, Nadir Hastal\u0131klar Federasyonu Ba\u015fkan\u0131 Av. G\u00fcne\u015f Uyar ve EURORDIS’ten Dr. G\u00fcl\u00e7in G\u00fcm\u00fc\u015f kat\u0131ld\u0131. Deneyimli televizyon sunucusu ve moderat\u00f6r Defne Sar\u0131soy da konferans\u0131n sunuculu\u011funu g\u00f6n\u00fcll\u00fc olarak \u00fcstlenerek HERDEM \u00c7are’ye destek verdi.<\/p>\n
\u00a0<\/p>\n
\u00a0<\/p>\n
Kaynak: (BYZHA) Beyaz Haber Ajans\u0131<\/p>\n","protected":false},"excerpt":{"rendered":"
D\u00fcnyan\u0131n farkl\u0131 \u00fclkelerinde ayn\u0131 nadir hastal\u0131kla m\u00fccadele eden 17 \u00e7ocuk ve aileleri, ortak bir umut i\u00e7in \u0130stanbul’da bulu\u015ftu. T\u00fcrkiye, \u0130talya, \u0130svi\u00e7re, Almanya, Avustralya, ABD, \u0130rlanda, Finlandiya, \u00c7in ve Malezya’dan gelen aileler, \u00e7ocuklar\u0131n\u0131n ya\u015fad\u0131\u011f\u0131 zorluklar\u0131 bilim\u2026<\/p>\n","protected":false},"author":1,"featured_media":11410,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[4635],"tags":[],"class_list":["post-11409","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-kultur-sanat"],"_links":{"self":[{"href":"https:\/\/vansondakikahaberler.com.tr\/index.php\/wp-json\/wp\/v2\/posts\/11409","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/vansondakikahaberler.com.tr\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/vansondakikahaberler.com.tr\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/vansondakikahaberler.com.tr\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/vansondakikahaberler.com.tr\/index.php\/wp-json\/wp\/v2\/comments?post=11409"}],"version-history":[{"count":0,"href":"https:\/\/vansondakikahaberler.com.tr\/index.php\/wp-json\/wp\/v2\/posts\/11409\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/vansondakikahaberler.com.tr\/index.php\/wp-json\/wp\/v2\/media\/11410"}],"wp:attachment":[{"href":"https:\/\/vansondakikahaberler.com.tr\/index.php\/wp-json\/wp\/v2\/media?parent=11409"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/vansondakikahaberler.com.tr\/index.php\/wp-json\/wp\/v2\/categories?post=11409"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/vansondakikahaberler.com.tr\/index.php\/wp-json\/wp\/v2\/tags?post=11409"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}