Near East University and Istanbul University have jointly produced a medical diagnostic kit to identify the genetic causes of rare metabolic diseases seen in children.
A large portion of rare childhood diseases are inherited metabolic diseases. These diseases, which have a wide range of clinical signs and symptoms, make diagnosis extremely challenging due to genetic variation, age of onset, and biochemical differences. Delays in diagnosis can result in irreversible, permanent damage, particularly mental and developmental delays. Therefore, screening during the neonatal period is vital.
The scientific collaboration between Near East University’s Experimental Health Sciences Research Institute (DESAM) and the Istanbul Faculty of Medicine’s Department of Pediatric Nutrition and Metabolism and the Department of Rare Diseases at the Institute of Child Health has pioneered one of the first domestically produced examples of third-generation sequencing technology used in the diagnosis of rare metabolic diseases in Turkey.
Inherited metabolic diseases will be diagnosed rapidly, reliably, and affordably.
The “Kit Development Using Third Next-Generation Sequencing Technology for Second-Line Molecular Differential Diagnosis in Expanded Newborn Screening with Tandem Mass Spectrometry” project, supported by the Istanbul University Scientific Research Projects Coordination Unit (BAP), aims to fill a significant gap in the early diagnosis of rare diseases. The diagnostic kit developed within this scope is designed for use in second-line molecular differential diagnosis processes that support the results of expanded newborn screening conducted with Tandem Mass Spectrometry. The diagnostic kit will enable rapid, reliable, and affordable diagnosis of inherited metabolic diseases at the molecular level.
The project utilizes Oxford Nanopore Technology (ONT), a third-generation sequencing technology. ONT provides a significant innovation in newborn screening programs with its ability to perform multiple gene target analysis simultaneously. The ONT-based system stands out as a highly applicable and innovative solution in clinical laboratories.
Prof. Dr. Tamer Şanlıdağ: “Thanks to this partnership with Istanbul University, we have not only developed a diagnostic kit, but also a model that will strengthen molecular medicine in Turkey through domestic production.”
Near East University Rector Prof. Dr. Tamer Şanlıdağ emphasized that the diagnostic kit, developed in collaboration with Istanbul University researchers for the diagnosis of rare childhood metabolic diseases, will meet a significant need. Prof. Dr. Şanlıdağ said, “Early diagnosis of rare childhood diseases is a turning point that can impact a child’s entire life. Thanks to this partnership with Istanbul University, we have not only developed a diagnostic kit, but also a model that will strengthen molecular medicine in Turkey through domestic production.”
Şanlıdağ also emphasized that this diagnostic kit, based on third-generation sequencing technologies, offers a highly usable, economical, and reliable solution for clinical applications. Tamer Şanlıdağ said, “We are developing joint projects with universities and institutes from Turkey and many other countries around the world. We believe that this approach is crucial for scientific development. This project, developed in collaboration with Istanbul University, is one of the most precious examples of this approach.”