Glycogen Storage Disease

Prize: Champion of GSD Teams

Gold Medal

Project Name:



R83C mutation occurs with the conversion of Arginine to Cysteine ​​at the 83rd code in the G6PC gene. [1] We created the “Prime Editing 4.0” project to correct this mutation. In the new generation Prime Editing 4.0, the mutant LbCpf1 enzyme was used instead of Cas9 nickase. The mutant LbCpf1 was chosen for its suitability to the R83C mutation with its high targeting success. LbCpf1 has been mutated from the R1006A and R1218A regions, which regulate cleavage activity, cutting the single chain. Mutant M-MLV Reverse Transcriptase (RT) with enhanced activities was used.[2] PegRNA has been designed according to 5′-TTTV-3′ pam sequence. For further studies, pegRNAs were created for common mutations suitable for 5′-TTTV-3′ pam sequence, except for R83C. Cationic lipids were chosen as the transfer method for reasons such as specificity and low immune response compared to viruses. [3] As an alternative to this project, the CRISPR / Cpf1 system was designed and used for AAV2 / 8 transmission.  In the second most common mutation, Q347X, no protein is produced as a result of glutamine conversion to a stop codon. In our “Prime Editing Std” project, Prime Editing 2 (PE2) system was used to treat point mutation Q347X. Since 95% targeting success was observed in PegRNA (, the system was not changed. An innovative transfer method with cationic lipid has been chosen. Plasmids were designed for both main projects. The living E. coli from which the proteins (Cas9 + M-MLV RT, Cpf1 + M-MLV RT) would be obtained was selected as Rosetta 2. Chromatography methods were used for purification of proteins, PCR, transcription kit and urea PAGE were used to produce pegRNAs. The ribonucleoprotein complex is planned to be tested by microinjection into HEPG2. T7 Endonuclease I Assay for control of Nikaz, Sanger sequencing for control of editing, Western Blot method for control of G6pase production as a result of editing. Possible toxic effects of treatment are detected by Flow Cytometry. C57BL / 6 mice were selected for preclinical experiments and suitable living conditions were designed. By using the zeta potential difference of the ribonucleoprotein complex, it was planned to be wrapped in cationic lipid and transferred from the tail vein of the mouse by microinjection. Control methods in cell culture are also used for preclinical experiments. As a result, 2 main projects and 1 alternative project are genetic therapy projects designed for the first time for glycogen storage disease type 1a.

Team Members

yaşar yurtsever

Yasar Yurtsever

My name is Yasar Yurtsever, and I am a student of Istanbul Technical University Molecular Biology and Genetic Department. I love every field of biology, especially synthetic biology. I work many teams and many projects. I write science magazines and science blogs. I love to take my time on many different things and science.

ebrar güneş

Ebrar Güneş

I am Ebrar Güneş. I am in my second year at Istanbul Technical University Molecular Biology and Genetics department. I’m interested in synthetic biology and Astrobiology. I love to be in social awareness studies to search interesting topics and to compose blogs about science in my native language and create figure designs which belong to science studies.

menşure feray coşar

Menşura Feray Çoşar

I am Menşura Feray Çoşar. I am in my second year at Istanbul Technical University Molecular Biology and Genetics department. I am interested in Synthetic Biology and Embryology. I love my ability to do research and improve by noticing my own shortcomings in the literature. I create blog posts by simplifying literature information full of terminology to a form that everyone can understand so that people with interest in this field can learn new things without being bored with terminology.

mustafa sami özaydın

Mustafa Sami Özaydın

I am Mustafa Sami Özaydın. I am a first year student of Istanbul Technical University, Molecular Biology and Genetics. I am interested in immunology. In my spare time, I read books about philosophy and history of science.

ahmet kara

Ahmet Kara

I am Ahmet Kara. I am a second-year student of Molecular Biology and Genetics at Istanbul Technical University. I am interested in phytology and neurobiology. I like to spend my leisure time reading about sociology.