{"id":67525,"date":"2022-12-28T08:51:04","date_gmt":"2022-12-28T08:51:04","guid":{"rendered":"https:\/\/haberulus.net\/?p=67525"},"modified":"2022-12-28T08:51:04","modified_gmt":"2022-12-28T08:51:04","slug":"turkiyede-5-milyon-kiside-nadir-hastalik-var","status":"publish","type":"post","link":"https:\/\/haberulus.net\/?p=67525","title":{"rendered":"T\u00fcrkiye\u2019de 5 milyon ki\u015fide \u201cnadir hastal\u0131k\u201d var"},"content":{"rendered":"

Ankara \u00dcniversitesi (A\u00dc) b\u00fcnyesinde, nadir hastal\u0131klara y\u00f6nelik ila\u00e7, tan\u0131 kiti ve takipte kullan\u0131labilecek yenilik\u00e7i y\u00f6ntemler geli\u015ftirilmesi, biyobanka, hastal\u0131klar a\u00e7\u0131s\u0131ndan co\u011frafi haritan\u0131n olu\u015fturulmas\u0131 ve tedavi modellerinin tan\u0131mlanmas\u0131 i\u00e7in Nadir Hastal\u0131klar Uygulama ve Ara\u015ft\u0131rma Merkezi kuruldu.<\/p>\n

Merkezin ba\u015fkan\u0131 ve A\u00dc T\u0131p Fak\u00fcltesi \u00d6\u011fretim \u00dcyesi Prof. Dr. Fatma Tuba Emino\u011flu, AA muhabirine yapt\u0131\u011f\u0131 a\u00e7\u0131klamada, nadir hastal\u0131klar\u0131n 2 binde bir ki\u015fiden daha az s\u0131kl\u0131kta g\u00f6r\u00fclen ve genellikle sakatl\u0131k ve \u00f6l\u00fcm riski y\u00fcksek hastal\u0131klar olarak tan\u0131mland\u0131\u011f\u0131n\u0131 s\u00f6yledi.
\u015eimdiye kadar tan\u0131mlanm\u0131\u015f 8 bine yak\u0131n nadir hastal\u0131k bulundu\u011funu anlatan Emino\u011flu, bu hastal\u0131klar\u0131n yakla\u015f\u0131k y\u00fczde 80\u2019inin genetik ge\u00e7i\u015fli oldu\u011funu ve y\u00fczde 65-70\u2019inin \u00e7ocukluk d\u00f6neminde ortaya \u00e7\u0131kt\u0131\u011f\u0131n\u0131 belirtti.<\/p>\n

Nadir hastal\u0131klar tek tek ele al\u0131nd\u0131\u011f\u0131nda toplumdaki s\u0131kl\u0131\u011f\u0131 d\u00fc\u015f\u00fck gibi g\u00f6r\u00fcnse de hepsi bir arada de\u011ferlendirildi\u011finde \u00f6nemli bir halk sa\u011fl\u0131\u011f\u0131 sorunu oldu\u011funa i\u015faret eden Emino\u011flu, \u201cAkraba evlili\u011fi s\u0131kl\u0131\u011f\u0131n\u0131n di\u011fer \u00fclkelere nazaran y\u00fcksek olmas\u0131 ve nadir hastal\u0131klar\u0131n b\u00fcy\u00fck \u00e7o\u011funlu\u011funun genetik olarak \u00e7ekinik aktar\u0131lmas\u0131 nedeniyle bu hastal\u0131klara \u00fclkemizde daha s\u0131k rastlanmaktad\u0131r.\u201d dedi.<\/p>\n

Emino\u011flu, t\u00fcm d\u00fcnyada yakla\u015f\u0131k 450 milyon, T\u00fcrkiye\u2019de ise 5,5-6 milyon ki\u015finin nadir hastal\u0131ktan etkilendi\u011finin tahmin edildi\u011fine dikkati \u00e7ekerek, ileri d\u00fczey tarama y\u00f6ntemlerinin t\u0131p alan\u0131nda kullan\u0131ma girmesi, n\u00fcfus art\u0131\u015f\u0131, sa\u011fl\u0131k bak\u0131mlar\u0131n\u0131n geli\u015fmesi ve ya\u015fam s\u00fcresinin artmas\u0131n\u0131n, tan\u0131 konulan nadir hastal\u0131kl\u0131 ki\u015fi ve nadir hastal\u0131k say\u0131s\u0131n\u0131n artmas\u0131na yol a\u00e7t\u0131\u011f\u0131n\u0131 dile getirdi.<\/p>\n

Nadir hastal\u0131klar konusunda tan\u0131dan tedaviye kar\u015f\u0131lanmam\u0131\u015f bir\u00e7ok ihtiya\u00e7 bulundu\u011funu ifade eden Emino\u011flu, son y\u0131llarda b\u00fct\u00fcn d\u00fcnyada nadir hastal\u0131klar\u0131 daha iyi anlamak, tan\u0131 ve takibini daha iyi yapmak i\u00e7in ara\u015ft\u0131rmalar yap\u0131ld\u0131\u011f\u0131n\u0131 ve her ge\u00e7en g\u00fcn bu hastal\u0131klar\u0131n tedavisi i\u00e7in yeni ila\u00e7lar\u0131n \u00e7\u0131kt\u0131\u011f\u0131n\u0131 s\u00f6yledi.<\/p>\n

Emino\u011flu, bu ila\u00e7lar\u0131n b\u00fcy\u00fck \u00e7o\u011funlu\u011funun, insan, bitki ve hayvan h\u00fccrelerinde bulunan fonksiyonlar\u0131 anlamak ve de\u011fi\u015ftirmek amac\u0131yla kullan\u0131lan teknikler ve i\u015flemler olarak tan\u0131mlanan biyoteknolojik ve yenilik\u00e7i \u00fcr\u00fcnler oldu\u011funu aktard\u0131.<\/p>\n

\u2018\u00d6NC\u00dc \u00dcN\u0130VERS\u0130TELERDEN B\u0130R\u0130 OLDUK\u2019<\/strong><\/p>\n

Nadir hastal\u0131klar\u0131n \u00e7o\u011funun nedeninin bilinmemesinin, tan\u0131 ve tedaviyi zorla\u015ft\u0131ran en \u00f6nemli fakt\u00f6r oldu\u011funa dikkati \u00e7eken Emino\u011flu, \u201cT\u00fcrkiye\u2019de nadir hastal\u0131klar konusundaki fark\u0131ndal\u0131k d\u00fczeyi hem kamuoyu hem de kamu kurum ve kurulu\u015flar\u0131 nezdinde giderek artt\u0131, hasta odakl\u0131 ve uzun soluklu \u00e7\u00f6z\u00fcmler geli\u015ftirmeye y\u00f6nelik politikalar geli\u015ftirilmesi g\u00f6r\u00fc\u015f\u00fc benimsendi ve gerekli ad\u0131mlar at\u0131lmaya ba\u015fland\u0131.\u201d diye konu\u015ftu.<\/p>\n

Emino\u011flu, son y\u0131llarda bu rahats\u0131zl\u0131klar \u00fczerine \u201cgen terapisi\u201d gibi bir\u00e7ok tedavi y\u00f6nteminin geli\u015ftirildi\u011fini, ila\u00e7 ara\u015ft\u0131rmalar\u0131n\u0131n say\u0131s\u0131n\u0131n artt\u0131\u011f\u0131n\u0131 belirterek, \u201cYetim ila\u00e7 olarak tan\u0131mlanan bu ila\u00e7lar\u0131n \u00e7o\u011fu biyoteknolojik \u00fcr\u00fcnlerdir ve tedavi maliyetleri \u00e7ok y\u00fcksektir.\u201d bilgisini verdi.
Bu kapsamda, Sa\u011fl\u0131k Bakanl\u0131\u011f\u0131 b\u00fcnyesinde Otizm, Zihinsel \u00d6zel Gereksinimler ve Nadir Hastal\u0131klar Dairesi \u00f6nc\u00fcl\u00fc\u011f\u00fcnde ve ilgili t\u00fcm payda\u015flar\u0131n katk\u0131s\u0131yla \u201c2023-2028 Nadir Hastal\u0131klar Sa\u011fl\u0131k Strateji Belgesi ve Eylem Plan\u0131\u201d haz\u0131rland\u0131\u011f\u0131n\u0131 an\u0131msatan Emino\u011flu, bu konuda k\u0131sa-orta ve uzun vadeli ulusal hedeflerin belirlendi\u011fini aktard\u0131.<\/p>\n

Emino\u011flu, nadir hastal\u0131klara ili\u015fkin s\u00fcreci yak\u0131ndan takip ettiklerini ve yeni uygulamalar i\u00e7in harekete ge\u00e7tiklerini ifade ederek, \u201cFiziki mekan, altyap\u0131 ve projelerle m\u00fckemmeliyet merkezlerine ilerlemek ve klinik ara\u015ft\u0131rmalar alan\u0131nda hedeflerin hayata ge\u00e7irilmesi i\u00e7in \u00f6nc\u00fc \u00fcniversitelerden biri olduk.\u201d \u015feklinde konu\u015ftu.<\/p>\n

Prof. Dr. Emino\u011flu, bu t\u00fcr hastal\u0131klar \u00fczerine ara\u015ft\u0131rmalar\u0131n yap\u0131laca\u011f\u0131 m\u00fckemmeliyet merkezi olarak kurgulanan Nadir Hastal\u0131klar Uygulama ve Ara\u015ft\u0131rma Merkezini kurduklar\u0131n\u0131 ve yak\u0131nda a\u00e7\u0131l\u0131\u015f\u0131n\u0131n yap\u0131laca\u011f\u0131n\u0131 bildirdi.<\/p>\n

Emino\u011flu, gerek nadir hastal\u0131klar\u0131n tan\u0131s\u0131 gerekse tedavisine y\u00f6nelik y\u00fcr\u00fct\u00fclen \u00e7al\u0131\u015fmalar\u0131n, bu hastal\u0131klarla ilgili liderlik, ara\u015ft\u0131rma, geli\u015ftirme, destek veya e\u011fitim faaliyetlerini sa\u011flayan m\u00fckemmeliyet merkezlerinde ger\u00e7ekle\u015ftirildi\u011finin alt\u0131n\u0131 \u00e7izdi.<\/p>\n

T\u00fcrkiye\u2019de nadir hastal\u0131klarla ilgili az say\u0131da merkezin hizmet verdi\u011fini ve bu alanda yap\u0131lan AR-GE yat\u0131r\u0131mlar\u0131n\u0131n da hen\u00fcz istenilen d\u00fczeyde olmad\u0131\u011f\u0131 vurgulayan Emino\u011flu, \u015funlar\u0131 kaydetti:<\/p>\n

\u201cNadir Hastal\u0131klar Ulusal Strateji Belgesi ve Eylem Plan\u0131\u2019nda da m\u00fckemmeliyet merkezlerinin \u00f6nemine vurgu yap\u0131ld\u0131. T\u00fcrkiye\u2019de ise nadir hastal\u0131klar alan\u0131nda faaliyet g\u00f6steren tam te\u015fekk\u00fcll\u00fc m\u00fckemmeliyet merkezi bulunmuyor. Bu alandaki eksikli\u011fi gidermek i\u00e7in Ankara \u00dcniversitesi Nadir Hastal\u0131klar Uygulama ve Ara\u015ft\u0131rma Merkezi taraf\u0131ndan nadir hastal\u0131klar \u00fczerine ara\u015ft\u0131rmalar\u0131n yap\u0131laca\u011f\u0131 ve multidisipliner sa\u011fl\u0131k hizmetini benimseyen bir m\u00fckemmeliyet merkezine ilerleme hedefimiz var.<\/p>\n

A\u00e7\u0131l\u0131\u015f\u0131n\u0131 yapaca\u011f\u0131m\u0131z Nadir Hastal\u0131klar Uygulama ve Ara\u015ft\u0131rma Merkezi\u2019nde, hastal\u0131klar\u0131n \u00f6nlenmesi i\u00e7in stratejiler geli\u015ftirilecek, hastal\u0131klar\u0131n g\u00f6r\u00fclme s\u0131kl\u0131\u011f\u0131, da\u011f\u0131l\u0131m\u0131 ve taramalar yap\u0131lmas\u0131 konu ba\u015fl\u0131klar\u0131nda bilimsel ara\u015ft\u0131rmalar y\u00fcr\u00fct\u00fclecek. Nadir hastal\u0131klar a\u00e7\u0131s\u0131ndan co\u011frafi harita \u00e7\u0131kar\u0131lacak ve ulusal kay\u0131t sisteminin kurulmas\u0131na yard\u0131mc\u0131 olacak projeler haz\u0131rlanacak. Bunun yan\u0131 s\u0131ra do\u011fum \u00f6ncesi ve yenido\u011fan taramalar\u0131 i\u00e7in stratejiler geli\u015ftirilecek ve \u00f6nerilerde bulunulacak, tan\u0131 ve takipte kullan\u0131labilecek kit ve yenilik\u00e7i y\u00f6ntemler geli\u015ftirilecek, tan\u0131 algoritmalar\u0131 olu\u015fturulacak. Yine, biyobanka olu\u015fturulacak, tedavi modelleri tan\u0131mlanacak, tedavi k\u0131lavuzlar\u0131 haz\u0131rlanacak.\u201d<\/p>\n

\"\"<\/p>\n

.<\/p>\n<\/div>\n

\u2018GENET\u0130K ARA\u015eTIRMALAR YAPILACAK\u2019\u00a0<\/strong><\/p>\n

Yeni tedaviler i\u00e7in faz \u00e7al\u0131\u015fmalar\u0131n\u0131n ger\u00e7ekle\u015ftirilmesi, gen ve k\u00f6k h\u00fccre gibi tedavilerin uygun hastalarda uygulanmas\u0131 i\u00e7in fiziki mekanlar\u0131n tamamland\u0131\u011f\u0131 bilgisini veren Emino\u011flu, merkezin \u00fcniversitenin Cebeci Yerle\u015fkesi\u2019nde 1000 metrekare fiziki alana sahip 3 katl\u0131 m\u00fcstakil binada hizmet verece\u011fini aktard\u0131.<\/p>\n

Emino\u011flu, \u201cFiziki altyap\u0131s\u0131nda Faz-1 ara\u015ft\u0131rma merkezi, ileri biyokimyasal \u00e7al\u0131\u015fmalar\u0131 ve genetik ara\u015ft\u0131rmalar\u0131 yapabilecek donan\u0131m\u0131 olan laboratuvar komplekslerinden olu\u015fuyor. E\u015f zamanl\u0131 olarak nadir hastal\u0131klar\u0131n tan\u0131 ve tedavi hizmetleri, alan\u0131nda deneyimli akademisyenler ve sa\u011fl\u0131k personeli ile y\u00fcr\u00fct\u00fclecek.\u201d ifadesini kulland\u0131.<\/p>\n

E\u011fitim alan\u0131nda da bilim insan\u0131 ve konusunda uzman sa\u011fl\u0131k personeli yeti\u015ftirilmesi, doktora ve y\u00fcksek lisans programlar\u0131n\u0131n olu\u015fturulmas\u0131, sertifikasyon programlar\u0131, e\u011fitim seminerleri, at\u00f6lye \u00e7al\u0131\u015fmalar\u0131n\u0131n ve bilimsel aktivitelerin ger\u00e7ekle\u015ftirilece\u011fini dile getiren Emino\u011flu, bas\u0131n yay\u0131n arac\u0131l\u0131\u011f\u0131yla bu alanda fark\u0131ndal\u0131\u011f\u0131n art\u0131r\u0131lmas\u0131na y\u00f6nelik de aktivitelerin yap\u0131laca\u011f\u0131n\u0131 s\u00f6yledi. AA<\/p>\n","protected":false},"excerpt":{"rendered":"

Ankara \u00dcniversitesi T\u0131p Fak\u00fcltesi \u00d6\u011fretim \u00dcyesi Prof. Dr. Fatma Tuba Emino\u011flu, “T\u00fcm d\u00fcnyada yakla\u015f\u0131k 450 milyon, T\u00fcrkiye’de ise 5,5-6 milyon ki\u015finin nadir hastal\u0131ktan etkilendi\u011fi tahmin ediliyor” dedi.<\/p>\n","protected":false},"author":1,"featured_media":67526,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[30],"tags":[226,4141,10456,9592,376],"class_list":["post-67525","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-saglik","tag-arastirma","tag-hastaliklar","tag-nadir-hastalik","tag-tani","tag-tedavi"],"_links":{"self":[{"href":"https:\/\/haberulus.net\/index.php?rest_route=\/wp\/v2\/posts\/67525","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/haberulus.net\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/haberulus.net\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/haberulus.net\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/haberulus.net\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=67525"}],"version-history":[{"count":1,"href":"https:\/\/haberulus.net\/index.php?rest_route=\/wp\/v2\/posts\/67525\/revisions"}],"predecessor-version":[{"id":67527,"href":"https:\/\/haberulus.net\/index.php?rest_route=\/wp\/v2\/posts\/67525\/revisions\/67527"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/haberulus.net\/index.php?rest_route=\/wp\/v2\/media\/67526"}],"wp:attachment":[{"href":"https:\/\/haberulus.net\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=67525"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/haberulus.net\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=67525"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/haberulus.net\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=67525"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}