{"id":4591,"date":"2026-02-28T10:39:30","date_gmt":"2026-02-28T07:39:30","guid":{"rendered":"https:\/\/pharmaworlddergi.com\/?p=4591"},"modified":"2026-02-28T11:05:41","modified_gmt":"2026-02-28T08:05:41","slug":"nadir-hastaliklarda-erken-tani-artik-mumkun-mu-bilim-veri-ve-is-birlikleri-hasta-yolculugunu-nasil-degistiriyor","status":"publish","type":"post","link":"https:\/\/pharmaworlddergi.com\/?p=4591","title":{"rendered":"Nadir Hastal\u0131klarda Erken Tan\u0131 Art\u0131k M\u00fcmk\u00fcn m\u00fc? Bilim, Veri ve \u0130\u015f Birlikleri Hasta Yolculu\u011funu Nas\u0131l De\u011fi\u015ftiriyor?\u00a0"},"content":{"rendered":"\n

Nadir hastal\u0131klarda y\u0131llar s\u00fcrebilen tan\u0131 yolculu\u011fu; erken tarama programlar\u0131, bilimsel geli\u015fmeler ve teknoloji odakl\u0131 modellerle d\u00f6n\u00fc\u015f\u00fcyor. Uzmanlara g\u00f6re erken tan\u0131, veri temelli yakla\u015f\u0131mlar ve i\u015f birlikleri sayesinde T\u00fcrkiye\u2019de hastalar\u0131n tan\u0131ya daha h\u0131zl\u0131 ula\u015ft\u0131\u011f\u0131 ve hasta yolculu\u011funun b\u00fct\u00fcnc\u00fcl ele al\u0131nd\u0131\u011f\u0131 yeni bir d\u00f6nem ba\u015fl\u0131yor.<\/strong><\/p>\n\n\n\n

Nadir hastal\u0131klar, d\u00fc\u015f\u00fck g\u00f6r\u00fclme s\u0131kl\u0131\u011f\u0131na sahip hastal\u0131klar\u0131 ifade etse de asl\u0131nda toplumun \u00f6nemli bir b\u00f6l\u00fcm\u00fcn\u00fc etkiliyor. T\u00fcrkiye\u2019de yakla\u015f\u0131k 6,4 milyon ki\u015finin nadir hastal\u0131klardan etkilendi\u011fi tahmin ediliyor.[1]<\/strong><\/a> \u00c7o\u011funlu\u011fu genetik k\u00f6kenli olan bu hastal\u0131klarda tan\u0131ya ula\u015fma s\u00fcreci hem hastalar hem de aileleri uzun, belirsiz ve psikososyal a\u00e7\u0131dan yorucu bir yolculuk anlam\u0131na gelebiliyor.<\/strong><\/p>\n\n\n\n

8 Y\u0131ll\u0131k Tan\u0131 Yolculu\u011fu K\u0131salabilir mi? Erken Tan\u0131 Neden Kritik?<\/strong><\/p>\n\n\n

\n
\"\"<\/figure><\/div>\n\n\n

Sanofi Avrasya B\u00f6lge Medikal Direkt\u00f6r\u00fc ve \u00dclke Lideri Dr. Nurdan Bulur<\/strong>,  nadir hastal\u0131klarda en kritik ba\u015fl\u0131\u011f\u0131n erken tan\u0131 oldu\u011funa dikkat \u00e7ekiyor. T\u00fcrkiye\u2019de nadir bir hastal\u0131\u011f\u0131n do\u011fru tan\u0131ya ula\u015fma s\u00fcresinin ortalama 8 y\u0131l s\u00fcrd\u00fc\u011f\u00fcn\u00fc belirten Dr. Bulur, bu s\u00fcrecin yaln\u0131zca hastal\u0131\u011f\u0131n ilerlemesine de\u011fil, hastalar ve aileler \u00fczerinde psikolojik ve sosyal y\u00fck\u00fcn artmas\u0131na da neden olabildi\u011fini ifade ediyor.[2]<\/a> Tan\u0131 altyap\u0131s\u0131n\u0131n g\u00fc\u00e7lendirilmesi, genetik de\u011ferlendirme s\u00fcre\u00e7lerinin yayg\u0131nla\u015ft\u0131r\u0131lmas\u0131 ve hekim fark\u0131ndal\u0131\u011f\u0131n\u0131n art\u0131r\u0131lmas\u0131 gerekti\u011fini vurgulayan Dr. Bulur, T\u00fcrkiye\u2019nin g\u00fc\u00e7l\u00fc elektronik sa\u011fl\u0131k kay\u0131t sistemi ve entegre veri altyap\u0131s\u0131n\u0131n tan\u0131 s\u00fcre\u00e7lerinin iyile\u015ftirilmesi a\u00e7\u0131s\u0131ndan \u00f6nemli bir f\u0131rsat sundu\u011funu dile getiriyor. Veri destekli karar sistemleri ve semptom bazl\u0131 tarama yakla\u015f\u0131mlar\u0131n\u0131n, y\u0131llar s\u00fcrebilen tan\u0131 yolculu\u011funu k\u0131saltma potansiyeli ta\u015f\u0131d\u0131\u011f\u0131n\u0131 belirtiyor.<\/p>\n\n\n\n

Belirti Ortaya \u00c7\u0131kmadan M\u00fcdahale: Yenido\u011fan Taramalar\u0131n\u0131n G\u00fcc\u00fc<\/strong><\/p>\n\n\n\n

Dr. Bulur, yenido\u011fan tarama programlar\u0131n\u0131n erken tan\u0131 a\u00e7\u0131s\u0131ndan en \u00f6nemli ara\u00e7lardan biri oldu\u011funa i\u015faret ederek, bu taramalar sayesinde baz\u0131 nadir hastal\u0131klar\u0131n klinik bulgular ortaya \u00e7\u0131kmadan saptanabildi\u011fini s\u00f6yl\u00fcyor. Tarama kapsam\u0131n\u0131n geni\u015fletilmesinin daha fazla hastan\u0131n erken d\u00f6nemde te\u015fhis edilmesini <\/p>\n\n\n\n

m\u00fcmk\u00fcn k\u0131laca\u011f\u0131n\u0131 ifade eden Dr. Bulur, erken m\u00fcdahalenin kal\u0131c\u0131 hasarlar\u0131n \u00f6nlenmesi ve uzun d\u00f6nemli sa\u011fl\u0131k y\u00fck\u00fcn\u00fcn azalt\u0131lmas\u0131 a\u00e7\u0131s\u0131ndan kritik rol oynad\u0131\u011f\u0131n\u0131, bunun ayn\u0131 zamanda \u00e7ocuklar\u0131n e\u011fitim ve sosyal hayata kat\u0131l\u0131m\u0131n\u0131 da do\u011frudan etkiledi\u011fini vurguluyor.<\/p>\n\n\n\n

Bilimsel \u0130lerlemeler Nadir Hastal\u0131klarda Tan\u0131 ve Tedavi Yakla\u015f\u0131m\u0131n\u0131 Nas\u0131l D\u00f6n\u00fc\u015ft\u00fcr\u00fcyor<\/strong><\/p>\n\n\n\n

Nadir hastal\u0131klar alan\u0131nda son y\u0131llarda kaydedilen bilimsel ilerlemelerin yeni ve umut verici tedavi se\u00e7eneklerini beraberinde getirdi\u011fini ifade eden Dr. Bulur, genetik temelli yakla\u015f\u0131mlar, hedefe y\u00f6nelik tedaviler ve ki\u015fiselle\u015ftirilmi\u015f t\u0131p uygulamalar\u0131n\u0131n bu d\u00f6n\u00fc\u015f\u00fcm\u00fcn \u00f6nemli par\u00e7alar\u0131 aras\u0131nda yer ald\u0131\u011f\u0131n\u0131 s\u00f6yl\u00fcyor. Sanofi\u2019nin global Ar-Ge portf\u00f6y\u00fcnde 80 proje bulundu\u011funu ve bunlar\u0131n 28\u2019inin Faz 3 a\u015famas\u0131nda y\u00fcr\u00fct\u00fcld\u00fc\u011f\u00fcn\u00fc belirten Dr. Bulur, T\u00fcrkiye\u2019de s\u00fcrd\u00fcr\u00fclen klinik ara\u015ft\u0131rmalar\u0131n hastalar\u0131n yenilik\u00e7i tedavilere erken eri\u015fimi a\u00e7\u0131s\u0131ndan \u00f6nem ta\u015f\u0131d\u0131\u011f\u0131n\u0131 ifade ediyor. Sanofi\u2019nin vizyonunun, bilimin h\u0131z\u0131n\u0131 dijital teknolojilerin g\u00fcc\u00fcyle birle\u015ftirerek hastalar i\u00e7in daha h\u0131zl\u0131, daha etkili ve daha eri\u015filebilir \u00e7\u00f6z\u00fcmler geli\u015ftirmek oldu\u011funu dile getiriyor.<\/p>\n\n\n\n

Nadir Hastal\u0131klar: Yaln\u0131zca Hastay\u0131 De\u011fil Aileyi de Etkiliyor<\/strong><\/p>\n\n\n

\n
\"\"<\/figure><\/div>\n\n\n

Sanofi Avrasya B\u00f6lge Nadir Hastal\u0131klar Medikal Direkt\u00f6r\u00fc Dr. Adnan Karan<\/strong> ise nadir hastal\u0131klar\u0131n yaln\u0131zca hastay\u0131 de\u011fil, t\u00fcm aileyi etkiledi\u011fini vurguluyor. Uzun tan\u0131 s\u00fcreci, sosyal izolasyon ve belirsizlik duygusunun aileler \u00fczerinde ciddi bir y\u00fck olu\u015fturabildi\u011fini belirten Dr. Karan, hasta yolculu\u011funda \u00e7ok disiplinli destek modellerinin \u00f6nemine dikkat \u00e7ekiyor. Hekim takibinin yan\u0131 s\u0131ra psikolog, sosyal hizmet uzman\u0131 ve hasta derneklerinin de s\u00fcrece dahil oldu\u011fu b\u00fct\u00fcnc\u00fcl bir yakla\u015f\u0131m\u0131n hem klinik sonu\u00e7lar\u0131 hem de ya\u015fam kalitesini olumlu y\u00f6nde etkiledi\u011fini ifade ediyor.<\/p>\n\n\n\n

VisionRare: Teknoloji Odakl\u0131 Erken Tan\u0131 Modeli<\/strong><\/p>\n\n\n\n

Dr. Karan, nadir hastal\u0131klarda erken tan\u0131y\u0131 h\u0131zland\u0131rmak amac\u0131yla T.C. Sa\u011fl\u0131k Bakanl\u0131\u011f\u0131, Ankara \u00dcniversitesi ve Sanofi T\u00fcrkiye aras\u0131nda imzalanan protokol ile Ankara \u00dcniversitesi\u2019nde ba\u015flayan teknoloji odakl\u0131 erken tan\u0131 modelinin ulusal \u00f6l\u00e7ekte yayg\u0131nla\u015ft\u0131r\u0131lmas\u0131n\u0131n hedeflendi\u011fini belirtiyor. Tek merkezli bir giri\u015fim olarak ba\u015flayan bu yap\u0131n\u0131n bug\u00fcn ulusal d\u00fczeyde \u00f6l\u00e7eklenebilir bir sa\u011fl\u0131k inovasyonu modeline d\u00f6n\u00fc\u015fme potansiyeli ta\u015f\u0131d\u0131\u011f\u0131n\u0131 ifade eden Dr. Adnan Karan, veri temelli yakla\u015f\u0131mlar ve karar destek sistemleri ile tan\u0131 s\u00fcrecinin h\u0131zland\u0131r\u0131lmas\u0131n\u0131n ama\u00e7land\u0131\u011f\u0131n\u0131 s\u00f6yl\u00fcyor. Bu modelin, hastalar ve aileleri i\u00e7in belirsizli\u011fin azalmas\u0131na ve do\u011fru uzmanl\u0131\u011fa daha k\u0131sa s\u00fcrede eri\u015fim sa\u011flanmas\u0131na katk\u0131 sunmas\u0131n\u0131n hedeflendi\u011fini vurguluyor.<\/p>\n\n\n\n

Care4Rare: \u00c7ok Payda\u015fl\u0131 \u0130\u015f Birli\u011fi ile Sistem D\u00fczeyinde D\u00f6n\u00fc\u015f\u00fcm<\/strong><\/p>\n\n\n

\n
\"\"<\/figure><\/div>\n\n\n

Nadir hastal\u0131klar alan\u0131nda kal\u0131c\u0131 bir d\u00f6n\u00fc\u015f\u00fcm i\u00e7in yaln\u0131zca t\u0131bbi tedavilerin de\u011fil, payda\u015flar aras\u0131 g\u00fc\u00e7l\u00fc i\u015f birliklerinin ve sistem d\u00fczeyinde ortak akl\u0131n da kritik rol oynad\u0131\u011f\u0131n\u0131 belirten Sanofi T\u00fcrkiye Kurumsal \u0130li\u015fkiler Direkt\u00f6r\u00fc<\/strong> Aysun Hatipo\u011flu<\/strong>, bu anlay\u0131\u015fla geli\u015ftirilen Care4Rare program\u0131n\u0131n \u00e7ok payda\u015fl\u0131 bir inovasyon platformu olarak konumland\u0131\u011f\u0131n\u0131 ifade ediyor.<\/p>\n\n\n\n

Care4Rare program\u0131n\u0131n nadir hastal\u0131klar alan\u0131nda geli\u015ftirilen \u00e7ok payda\u015fl\u0131 bir inovasyon platformu oldu\u011funu belirten Hatipo\u011flu, program kapsam\u0131nda hekimlerin, hasta derneklerinin, kamu temsilcilerinin ve giri\u015fimcilerin bir araya gelerek tan\u0131 s\u00fcre\u00e7lerinin iyile\u015ftirilmesi ve hasta yolculu\u011funun g\u00fc\u00e7lendirilmesi i\u00e7in ortak \u00e7al\u0131\u015fmalar y\u00fcr\u00fctt\u00fc\u011f\u00fcn\u00fc ifade ediyor. \u00c7ok payda\u015fl\u0131 \u00e7al\u0131\u015ftaylarda fark\u0131ndal\u0131\u011f\u0131n art\u0131r\u0131lmas\u0131, hasta ve hasta yak\u0131nlar\u0131n\u0131n desteklenmesi, tan\u0131 s\u00fcre\u00e7lerinin iyile\u015ftirilmesi ve tedavi-bak\u0131m hizmetlerinin g\u00fc\u00e7lendirilmesi ba\u015fl\u0131klar\u0131n\u0131n ele al\u0131nd\u0131\u011f\u0131n\u0131 belirten Hatipo\u011flu, yapay zek\u00e2 ve dijital sa\u011fl\u0131k \u00e7\u00f6z\u00fcmlerinin bu alandaki d\u00f6n\u00fc\u015f\u00fcm\u00fc destekleyebilece\u011fini s\u00f6yl\u00fcyor.<\/p>\n\n\n\n

Erken Tan\u0131dan B\u00fct\u00fcnc\u00fcl Yakla\u015f\u0131ma<\/strong><\/p>\n\n\n\n

Uzmanlara g\u00f6re nadir hastal\u0131klarda erken tan\u0131, veri temelli yakla\u015f\u0131m ve \u00e7ok payda\u015fl\u0131 i\u015f birliklerinin bir araya gelmesi; tan\u0131 s\u00fcrecinin h\u0131zland\u0131r\u0131lmas\u0131, yenilik\u00e7i tedavilere eri\u015fimin art\u0131r\u0131lmas\u0131 ve hastalar ile ailelerinin ya\u015fam kalitesinin iyile\u015ftirilmesi a\u00e7\u0131s\u0131ndan \u00f6nemli bir d\u00f6n\u00fc\u015f\u00fcm potansiyeli ta\u015f\u0131yor. T\u00fcrkiye\u2019de hayata ge\u00e7irilen modeller, nadir hastal\u0131klar alan\u0131nda erken tan\u0131dan sistem d\u00fczeyinde d\u00f6n\u00fc\u015f\u00fcme uzanan yeni bir yakla\u015f\u0131m\u0131n i\u015faretlerini veriyor.<\/p>\n\n\n\n

Kaynak\u00e7a:<\/p>\n\n\n\n[1] Nadir Hastal\u0131klar Strateji Belgesi ve Eylem Plan\u0131. Available online: nadir-hastaliklar-eylem-plani\u2014011222pdf.pdf (saglik.gov.tr). (Son Eri\u015fim Tarihi: 24.02.2026)<\/p>\n\n\n\n

2 G\u00fcrkan, Hakan, and Nihan Bilge Satk\u0131n. “The importance of genetic diagnosis in rare diseases.” Balkan Medical Journal 42.2 (2025): 92.<\/p>\n\n\n\n

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

Nadir hastal\u0131klarda y\u0131llar s\u00fcrebilen tan\u0131 yolculu\u011fu; erken tarama programlar\u0131, bilimsel geli\u015fmeler ve teknoloji odakl\u0131 modellerle d\u00f6n\u00fc\u015f\u00fcyor. Uzmanlara g\u00f6re erken tan\u0131, veri temelli yakla\u015f\u0131mlar ve i\u015f birlikleri sayesinde T\u00fcrkiye\u2019de hastalar\u0131n tan\u0131ya daha h\u0131zl\u0131 ula\u015ft\u0131\u011f\u0131 ve hasta yolculu\u011funun b\u00fct\u00fcnc\u00fcl ele al\u0131nd\u0131\u011f\u0131 yeni bir d\u00f6nem ba\u015fl\u0131yor.<\/p>\n","protected":false},"author":1,"featured_media":4601,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[48,42],"tags":[],"_links":{"self":[{"href":"https:\/\/pharmaworlddergi.com\/index.php?rest_route=\/wp\/v2\/posts\/4591"}],"collection":[{"href":"https:\/\/pharmaworlddergi.com\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/pharmaworlddergi.com\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/pharmaworlddergi.com\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/pharmaworlddergi.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=4591"}],"version-history":[{"count":4,"href":"https:\/\/pharmaworlddergi.com\/index.php?rest_route=\/wp\/v2\/posts\/4591\/revisions"}],"predecessor-version":[{"id":4604,"href":"https:\/\/pharmaworlddergi.com\/index.php?rest_route=\/wp\/v2\/posts\/4591\/revisions\/4604"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/pharmaworlddergi.com\/index.php?rest_route=\/wp\/v2\/media\/4601"}],"wp:attachment":[{"href":"https:\/\/pharmaworlddergi.com\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=4591"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/pharmaworlddergi.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=4591"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/pharmaworlddergi.com\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=4591"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}