Turkish scientists, through collaboration between Near East University and Istanbul University Faculty of Medicine, are pioneering a groundbreaking medical diagnostic kit project focused on detecting genetic causes of 47 rare metabolic diseases in newborns. Utilizing third-generation sequencing technology, the project targets 82 genes, expanding the scope of newborn screenings and allowing for early diagnosis at birth. The completed laboratory studies for three targeted diseases highlight tangible progress. Near East University Rector Prof. Dr. Tamer Şanlıdağ and Istanbul University Pediatric Institute Head Prof. Dr. Fatmahan Atalar, in a recent meeting, emphasized the life-saving potential of the innovative diagnostic kit. Early diagnosis significantly impacts treatment outcomes, and the project employs cost-effective third-generation sequencing technology, facilitating timely access to treatment for affected children.

The sustainability aspect of this medical breakthrough lies in its potential to improve long-term health outcomes and reduce healthcare burdens. Early detection of rare metabolic diseases aligns with sustainable health goals by preventing prolonged suffering and costly treatments. The emphasis on third-generation sequencing technology not only ensures faster and more cost-effective results but also positions the project at the forefront of sustainable healthcare practices. The broader clinical impact of the diagnostic kit, enabling definitive diagnoses with a wide range of signs and symptoms, further enhances its sustainability by addressing diverse health challenges in newborns comprehensively.

Moreover, the collaborative nature of the project emphasizes the importance of collective efforts in advancing healthcare solutions. By contributing to global health science, Turkish scientists are fostering international collaboration and knowledge exchange, promoting sustainable practices in the field. The expected expansion of newborn screenings in Turkey reflects a commitment to proactive healthcare, aligning with sustainability principles by preventing long-term health complications and associated environmental and economic impacts. In summary, this medical diagnostic kit project not only signifies a significant scientific advancement but also aligns with sustainable health goals through early detection, efficient technology utilization, and collaborative, globally relevant contributions to healthcare.

For more information:
https://neu.edu.tr/near-east-university-and-istanbul-university-scientists-come-together-at-near-east-university-to-evaluate-the-progress-they-have-reached-in-the-diagnostic-kit-project-they-developed-for-the-diagnosis/?lang=en