Yak\u0131n Do\u011fu \u00dcniversitesi ve \u0130stanbul \u00dcniversitesi i\u015f birli\u011fi ile \u00e7ocuklarda g\u00f6r\u00fclen az \u00a0metabolik hastal\u0131klar\u0131n genetik nedenlerini saptamak i\u00e7in t\u0131bbi te\u015fhis kiti \u00fcretmek \u00fczere haz\u0131rlanan \u201cSa\u011fl\u0131kta Teknoloji Geli\u015ftirme Projesi\u201d, \u0130stanbul \u00dcniversitesi Bilimsel Ara\u015ft\u0131rma Projeleri Uyum \u00dcnitesi Ara\u015ft\u0131rma \u00dcniversiteleri Takviye Program\u0131 (ADEP) taraf\u0131ndan desteklenecek.\u00a0<\/strong>D\u00fcnyan\u0131n ve \u00fclkemizin \u00f6nemli toplum s\u0131hhati sorunlar\u0131ndan biri olan ender hastal\u0131klar\u0131n de\u011ferli k\u0131sm\u0131n\u0131 kal\u0131tsal metabolik ender hastal\u0131klar olu\u015fturuyor. Kompleks klinik yap\u0131 ve genetik heterojenite g\u00f6steren farkl\u0131 kal\u0131tsal metabolik hastal\u0131klarda ortaya \u00e7\u0131kan klinik belirti ve bulgu spektrumu ise hayli geni\u015f. Bunlar, hastal\u0131\u011f\u0131n ba\u015flang\u0131\u00e7 ya\u015f\u0131, mutasyon tipi, beslenme, depolanan gerecin biyokimyas\u0131 ve depolaman\u0131n yer ald\u0131\u011f\u0131 h\u00fccre tiplerine nazaran de\u011fi\u015fiklik g\u00f6sterir. B\u00fct\u00fcn bu nedenler, bu hastal\u0131klar\u0131n te\u015fhisini konmas\u0131n\u0131 da g\u00fc\u00e7le\u015ftirebilir. Az hastal\u0131klar\u0131n te\u015fhisinin konulamamas\u0131 yahut te\u015fhisin gecikmesi ise hastalarda zeka ve geli\u015fim gerili\u011fi ba\u015fta olmak \u00fczere geri d\u00f6n\u00fc\u015f\u00fc olmayan hasarlara sebep oluyor. Bu nedenle, bu tip hastal\u0131klar\u0131 saptayabilmek i\u00e7in yap\u0131lan yenido\u011fan taramalar\u0131 hayati bir k\u0131ymet ta\u015f\u0131yor.\u00a0Yak\u0131n Do\u011fu \u00dcniversitesi ve \u0130stanbul \u00dcniversitesi i\u015f birli\u011fi yaparak, yenido\u011fan taramalar\u0131nda kullan\u0131lmak \u00fczere metabolik hastal\u0131klar\u0131n genetik nedenlerini saptamada kullan\u0131lacak te\u015fhis kiti geli\u015ftirmek i\u00e7in \u00e7al\u0131\u015fmalar\u0131n\u0131 s\u00fcrd\u00fcr\u00fcyor. Bu gayeyle, Yak\u0131n Do\u011fu \u00dcniversitesi DESAM Ara\u015ft\u0131rma Enstit\u00fcs\u00fc ve \u0130stanbul \u00dcniversitesi \u0130stanbul T\u0131p Fak\u00fcltesi \u00c7ocuk Beslenme ve Metabolizma BD ve \u00c7ocuk S\u0131hhati Enstit\u00fcs\u00fc Az Hastal\u0131klar Anabilim K\u0131sm\u0131 i\u015f birli\u011finde haz\u0131rlanan \u201cArd\u0131\u015f\u0131k k\u00fctle spektrometrisi ile geni\u015fletilmi\u015f yenido\u011fan taramas\u0131nda ikinci basamak molek\u00fcler ay\u0131r\u0131c\u0131 te\u015fhis i\u00e7in \u00fc\u00e7\u00fcnc\u00fc yeni ku\u015fak dizileme teknolojisi kullan\u0131larak kit geli\u015ftirme\u201d ba\u015fl\u0131kl\u0131 ortak proje, \u0130stanbul \u00dcniversitesi Bilimsel Ara\u015ft\u0131rma Projeleri Uyum \u00dcnitesi Ara\u015ft\u0131rma \u00dcniversiteleri Takviye Program\u0131 (ADEP) taraf\u0131ndan desteklenmeye lay\u0131k g\u00f6r\u00fcld\u00fc.\u00a0\u0130ki \u00fcniversitenin i\u015f birli\u011fi i\u00e7erisinde y\u00fcr\u00fctt\u00fc\u011f\u00fc projenin sonucunda \u00fcretilecek te\u015fhis kiti, yenido\u011fan taramalar\u0131nda kullan\u0131larak kal\u0131tsal metabolik az hastal\u0131\u011fa neden olan genetik mutasyonu saptamakta kullan\u0131lacak. \u00c7al\u0131\u015fma ile birlikte; hastal\u0131klar\u0131 belirti vermeden tespit edebilmek, erken tedaviyi ba\u015flatmak, beyin hasar\u0131 ba\u015fta olmak \u00fczere organ hasarlar\u0131n\u0131 ve en de\u011ferlisi de engellilik ve erken vefatlar\u0131 \u00f6nlemek kolayla\u015facak.\u00a0Yenido\u011fan taramalar\u0131 az hastal\u0131klar\u0131n belirlenmesinde hayati ehemmiyet ta\u015f\u0131yor\u00a0<\/strong>T\u00fcrkiye Cumhuriyeti S\u0131hhat Bakanl\u0131\u011f\u0131 yenido\u011fan taramas\u0131 kapsam\u0131nda; Fenilketon\u00fcri, Konjenital Hipotiroidi, Konjenital Adrenal Hiperplazi, Biyotinidaz Eksikli\u011fi, Kistik Fibrozis ve Spinal M\u00fcsk\u00fcler Atrofi olmak \u00fczere alt\u0131 adet kal\u0131tsal metabolik hastal\u0131\u011f\u0131 tar\u0131yor. Amerika Birle\u015fik Devletleri ve \u00f6b\u00fcr geli\u015fmi\u015f \u00fclkeler ise yenido\u011fan bebeklerinde 50\u2019ye yak\u0131n farkl\u0131 hastal\u0131\u011f\u0131 tarayabilen \u201cgeni\u015fletilmi\u015f yenido\u011fan taramas\u0131\u201d programlar\u0131n\u0131 yakla\u015f\u0131k yirmi y\u0131ld\u0131r kullan\u0131yor. Yenido\u011fan taramas\u0131, Kuzey K\u0131br\u0131s T\u00fcrk Cumhuriyeti\u2019nde ise bir ulusal tarama program\u0131 olarak \u015fimdi kullan\u0131lm\u0131yor.\u00a0T\u00fcrk bilim insanlar\u0131n\u0131n geli\u015ftirece\u011fi te\u015fhis kiti ile pek \u00e7ok az hastal\u0131\u011f\u0131n tan\u0131s\u0131 konulabilecek<\/strong>Yak\u0131n Do\u011fu \u00dcniversitesi Rekt\u00f6r\u00fc ve birebir vakitte DESAM Ara\u015ft\u0131rma Enstit\u00fcs\u00fc M\u00fcd\u00fcr\u00fc Prof. Dr. Tamer \u015eanl\u0131da\u011f ve grubu ile \u0130stanbul T\u0131p Fak\u00fcltesi, \u00c7ocuk S\u0131hhati ve Hastal\u0131klar\u0131 Ana Bilim K\u0131sm\u0131 \u00d6\u011fretim \u00dcyesi Prof. Dr. G\u00fclden Fatma G\u00f6k\u00e7ay\u2019\u0131n y\u00fcr\u00fct\u00fcc\u00fcl\u00fc\u011f\u00fcnde ger\u00e7ekle\u015ftirilecek proje ile geni\u015fletilmi\u015f yenido\u011fan taramas\u0131 kapsam\u0131nda, \u00e7ocuklarda g\u00f6r\u00fclen muhakkak kal\u0131tsal ender metabolik hastal\u0131klar\u0131n te\u015fhislerinin molek\u00fcler teknikle do\u011frulanabilmesi m\u00fcmk\u00fcn hale gelecek. Geni\u015fletilmi\u015f yenido\u011fan tarama kiti, Oxford NanoPore sistemi \u00fczerinde geli\u015ftirilecek.\u00a0Prof. Dr. Tamer \u015eanl\u0131da\u011f: \u201cT\u00fcrkiye\u2019nin esasl\u0131 kurumlar\u0131ndan \u0130stanbul \u00dcniversitesi ile birlikte geli\u015ftirece\u011fimiz, geni\u015fletilmi\u015f yenido\u011fan tarama kitini farkl\u0131 ticarile\u015fme stratejileri ile s\u0131hhat dal\u0131na kazand\u0131raca\u011f\u0131z.\u201d<\/strong>Yak\u0131n Do\u011fu \u00dcniversitesi Rekt\u00f6r\u00fc Prof. Dr. Tamer \u015eanl\u0131da\u011f, \u0130stanbul \u00dcniversitesi ile geli\u015ftirecekleri yenido\u011fan tarama kitinin k\u0131ymetli bir gereksinimi kar\u015f\u0131layaca\u011f\u0131n\u0131 vurgulad\u0131. Daha evvel Yak\u0131n Do\u011fu \u00dcniversitesi b\u00fcnyesinde geli\u015ftirerek \u00fcrettikleri COVID-19 PCR Te\u015fhis ve Varyant Tahlil Kiti\u2019ni, T\u00fcrkiye ve KKTC S\u0131hhat Bakanl\u0131klar\u0131n\u0131n onay\u0131 ile kullan\u0131ma sunduklar\u0131n\u0131 hat\u0131rlatan Prof. Dr. \u015eanl\u0131da\u011f, \u201cT\u00fcrkiye\u2019nin esasl\u0131 kurumlar\u0131ndan \u0130stanbul \u00dcniversitesi ile birlikte geli\u015ftirece\u011fimiz, geni\u015fletilmi\u015f yenido\u011fan tarama kitini de farkl\u0131 ticarile\u015fme stratejileri ile s\u0131hhat kesimine kazand\u0131raca\u011f\u0131z\u201d tabirini kulland\u0131. Geli\u015ftirecekleri te\u015fhis kitinin, s\u0131hhat alan\u0131nda, Kuzey K\u0131br\u0131s T\u00fcrk Cumhuriyeti ve T\u00fcrkiye Cumhuriyeti ortas\u0131ndaki i\u015f birli\u011fine de k\u0131ymetli bir katk\u0131 sunaca\u011f\u0131n\u0131 s\u00f6yleyen Prof. Dr. Tamer \u015eanl\u0131da\u011f, \u201cT\u00fcrkiyemiz ve Kuzey K\u0131br\u0131s\u2019\u0131m\u0131zda, az metabolik hastal\u0131klar\u0131n erken tan\u0131s\u0131 ile hakikat ve kesin tedavinin uygulanmas\u0131 b\u00fcy\u00fck \u00f6l\u00e7\u00fcde kolayla\u015facak\u201d tabirini kulland\u0131.\u00a0Prof. Dr. G\u00fclden Fatma G\u00f6k\u00e7ay: \u201cYak\u0131n Do\u011fu \u00dcniversitesi ile birlikte yenilik\u00e7i bir yakla\u015f\u0131mla geli\u015ftirece\u011fimiz yeni kit, bilimsel literat\u00fcrde ve s\u0131hhat dal\u0131nda birinci olma \u00f6zelli\u011fi ta\u015f\u0131yor.\u201d\u00a0<\/strong>Projenin y\u00fcr\u00fct\u00fcc\u00fcl\u00fc\u011f\u00fcn\u00fc de \u00fcstlenen \u0130stanbul T\u0131p Fak\u00fcltesi, \u00c7ocuk S\u0131hhati ve Hastal\u0131klar\u0131 Ana Bilim K\u0131sm\u0131 \u00d6\u011fretim \u00dcyesi Prof. Dr. G\u00fclden Fatma G\u00f6k\u00e7ay ise Yak\u0131n Do\u011fu \u00dcniversitesi ile birlikte yenilik\u00e7i bir yakla\u015f\u0131mla geli\u015ftirecekleri yeni kitin; klinik validasyonlar sonras\u0131nda, \u00e7ocuklarda metabolik hastal\u0131klar\u0131n genetik nedeninin belirlenmesinde, bilimsel literat\u00fcrde ve dalda bir birinci olma \u00f6zelli\u011fi ta\u015f\u0131d\u0131\u011f\u0131n\u0131 s\u00f6yledi.\u00a0Prof. Dr. G\u00fclden Fatma G\u00f6k\u00e7ay, te\u015fhis ve tedavi s\u00fcrecinde ge\u00e7 kal\u0131nmas\u0131 durumda de\u011ferli zeka ve geli\u015fim problemlerine neden olan kal\u0131tsal metabolik hastal\u0131klar\u0131n erken te\u015fhisinin ehemmiyetine vurgu yaparak, \u201cGeli\u015ftirerek \u00fcretece\u011fimiz geni\u015fletilmi\u015f yenido\u011fan tarama kiti, s\u00fcratli ve kesin te\u015fhis imkan\u0131 sa\u011flayarak, az hastal\u0131klar\u0131n te\u015fhisinde \u00e7ok de\u011ferli bir gereksinimi kar\u015f\u0131layacak\u201d tabirini kulland\u0131.\u00a0\u00a0Kaynak: (BYZHA) – Beyaz Haber Ajans\u0131<\/p>\n","protected":false},"excerpt":{"rendered":"

Yak\u0131n Do\u011fu \u00dcniversitesi ve \u0130stanbul \u00dcniversitesi i\u015f birli\u011fi ile \u00e7ocuklarda g\u00f6r\u00fclen az metabolik hastal\u0131klar\u0131n genetik nedenlerini saptamak i\u00e7in t\u0131bbi te\u015fhis kiti \u00fcretmek \u00fczere haz\u0131rlanan \u201cSa\u011fl\u0131kta Teknoloji Geli\u015ftirme Projesi\u201d, \u0130stanbul \u00dcniversitesi Bilimsel Ara\u015ft\u0131rma Projeleri Uyum \u00dcnitesi Ara\u015ft\u0131rma \u00dcniversiteleri Dayanak Program\u0131 (ADEP) taraf\u0131ndan desteklenecek.<\/p>\n","protected":false},"author":1,"featured_media":37062,"comment_status":"closed","ping_status":"","sticky":false,"template":"","format":"standard","meta":[],"categories":[6,7],"tags":[2057,2058,103,814,295],"yoast_head":"\n