Near East University’s Experimental Health Sciences Research Institute (DESAM) and Istanbul University have jointly developed a medical diagnostic kit to identify the genetic causes of rare inherited metabolic diseases in children. These conditions, which often present with complex clinical symptoms, are difficult to diagnose and can lead to irreversible developmental damage if not detected early.

The project, supported by Istanbul University’s Scientific Research Projects Coordination Unit (BAP), is one of the first domestically produced examples of third-generation sequencing technology used in Turkey for diagnosing rare diseases. Developed by DESAM and Istanbul University’s Faculty of Medicine, the kit is designed to serve as a second-line molecular diagnostic tool that supports expanded newborn screening performed with Tandem Mass Spectrometry.

Using Oxford Nanopore Technology (ONT), the kit allows simultaneous analysis of multiple gene targets, enabling faster, more reliable, and cost-effective diagnosis.

https://neu.edu.tr/two-major-turkish-universities-join-forces-for-children/?lang=en