The second meeting, where the developments in the medical diagnostic kit project developed by the Near East University and Istanbul University Faculty of Medicine to detect the genetic causes of rare metabolic diseases in newborns were discussed, was held at the Near East University.

The progress reached in the medical diagnostic kit project developed by scientists from the Near East University and Istanbul University, using the 3rd new generation sequencing technology to detect the genetic diagnoses of rare metabolic diseases in children, to be used in extended newborn screenings, was discussed at the meeting held at the Near East University. .

The details of the project workshop planned to be held in October 2023, as well as the developments in the project, were discussed at the meeting held by the project team with the participation of Near East University Rector Prof. Dr. Tamer Şanlıdağ and Istanbul University Pediatric Institute Head of Rare Diseases Department and Founding Director of Rare Diseases Research Laboratory Prof. Dr. Fatmahan Atalar. The first results of the project, which is the first in the scientific literature and in the health sector and planned to be held with the cooperation of Near East University, Istanbul University Faculty of Medicine and with the participation of Massive Bioinformatics, will be announced.

Prof. Dr. Tamer Şanlıdağ: “The diagnostic kit, developed in cooperation with the Near East University and Istanbul University, will be recorded as an important contribution of Turkish scientists to world science.”
The scope of the project, which is carried out by DESAM Research Institute researchers led by Near East University Rector Prof. Dr. Tamer Şanlıdağ in collaboration with Istanbul Faculty of Medicine, Department of Child Health and Diseases Lecturer Prof. Dr. Gülden Fatma Gökçay, aims to develop a medical diagnostic kit using the 3rd new generation sequencing technology for the diagnosis of 47 rare metabolic diseases associated with a total of 82 genes.

Stating that they discussed the stage reached in the project in the meeting they held, Near East University Rector Prof. Dr. Tamer Şanlıdağ said that they also discussed the laboratory results obtained in the project, which proceeded in accordance with the planned program at the meeting. “The project is rapidly moving towards the end!” said Prof. Dr. Şanlıdağ, and added; “We have completed laboratory studies for the diagnosis of three of the rare metabolic diseases that are planned to be studied. Our team continues to work on the diagnosis of other diseases.” Emphasizing that the diagnostic kit they developed in cooperation with Istanbul University will be developed with an innovative approach, and it will be a study that will lead to many developments in the field of health as it is the first in the scientific literature and the health sector, Prof. Dr. Şanlıdağ said, “The diagnostic kit, developed in cooperation with the Near East University and Istanbul University, will be recorded as an important contribution of Turkish scientists to world science.”

Prof. Dr. Fatmahan Atalar: “Thanks to this kit, we will be able to diagnose possible metabolic diseases in our newborn babies when they are born.”
Head of Rare Diseases Department of Istanbul University Pediatric Institute and Founding Director of Rare Diseases Research Laboratory, who undertook the execution of the project, Prof. Dr. Fatmahan Atalar said, “We are developing a kit that will save the lives of many newborns. Early diagnosis of rare metabolic diseases in children is of critical importance for the diagnosis and treatment processes and will have a serious impact on the course of the disease.”

Prof. Dr. Fatmahan Atalar stated that many newborns lost their lives without being diagnosed due to the long duration of the current diagnosis methods and said, “We have been developing the kit which we continue to work on by using the third new generation sequencing technology. Thanks to this technology, we plan to achieve results in a short time and cost-effectively. In this way, we aim for many children to access treatment and have a better life as soon as possible. The definitive diagnosis of rare metabolic diseases with a wide spectrum of clinical signs and symptoms will now be possible with the kit we have developed.” Prof. Dr. Atalar also said, “Extended newborn screening in newborn babies has been carried out in many countries for many years. The scope of this screening, which is carried out for only 6 diseases in Turkey, will be expanded with these kit/s to be developed. Thanks to this kit, we will be able to diagnose possible metabolic diseases in our newborn babies when they are born.”