Glycogen Storage Disease

Prize: Bronze Medal

Project Name:

100.000’de 1 Tip1a


Glycogen Storage Disease is in the category of rare diseases diagnosed and is autosomal recessive. It is a carbohydrate metabolism disease that shows its effects on the liver. There are at least 85 mutations in the G6PC gene. Due to the mutation, the glucose-6-phosphatase enzyme cannot serve. While there are several types, our project focus is the more common GSD Type1a. The aim of the project is to create therapy by ensuring the correct functioning of the amp and enzyme. As a result of literature screening, completed and ongoing clinical trials, research conducted by examining animal and human trials, it has been observed that there is currently no definitive cure for the disease and its effects are reduced by nutrition and dietary recommendations.
Genetic modification, guide gene sequence and subsequent treatment method were determined as a result of research. To appeal to the more common audience, the most common type of mutation found in patients has been selected. There are two methods in the form of plan A and Plan B in the project. These are CRISPR cas9 and lentiviral methods. CRISPR Cas9, CRISPR/Cas9 technology; it is used on a wide range of platforms such as identification of bacterial strains, determination of gene and miRNA functions, addition/removal of DNA fragmentation to the genome, gene silencing, transcriptional and epigenetic targeting, or the creation of disease models. Lentiviral, on the other hand, is effectively integrated into the host genome and stands out by providing stable long-term expression of the transgene even in actively dividing cells.
While the project was being prepared, it was taken care that the treatment was achievable and financially appropriate when selecting the system and transfer types. Our study consists of a compilation of mutation scans based on the current racial classification. Wetlab application and findings are not available in the study as we do not yet have a laboratory study obtained. The design we have made is supported by the design supporting sites mentioned in the source and the training we receive from our teachers who advise us. It is thought that the effectiveness of the design will be successful in raising enzyme activity.

Team Member

ayşe nur avcı

Ayşe Nur Avcı  

  • Istanbul University-Biology License 2. Grade
  • English (B2)
  • IUGEN – Board of Directors-Finance Coordinator
  • Took part in the traditional Winter School, which is our club events, and in the organization of biopeak bio-teaching summit.
  • IU Organization team of AI in Health, Congress
  • Founding member of IU DATA Club
  • I’m active in the finance coordinator at the Biological Sciences Club.
  • A social responsibility project continues as a mentor to the Power League Valley mentoring program.
  • Areas of interest: bioinformatics, entrepreneurship, artificial intelligence
  • Linkedin Profile:
betül buse coşkun

Betül Buse Coşkun

  • Ankara University/Biology License 4. Grade
  • English (A2)
  • Areas of interest: Molecular Biology, Bioinformatics, Botanic
  • Internships
  • Ibni Sina Hospital Central Laboratory
  • Ministry of Agriculture Forestry, Experimental Animals Unit Vaccine Production Institute
  • Communities
  • Togg Çankaya University
  • Odtü-Biogen
  • Ankara University-Biology Community
  • General English Course (continues)
  • 2019 Gene-Activated Matrices (GAMs) Dr. Georg A. Feichtinger
  • 2019 microRNA and cancer treatment
  • 2020 Odtü – Why Biologists Should Defend Gmo
  • 2020 Odtü – Evolution Reading Workshop
  • 2020 Ankara University – The beginning Of Crispr-Cas genome Editing
  • 2020 Ankara University – Biomaterial Based Tissue Engineering
burçak kurt

Burçak Kurt

  • Uşak University-Molecular Biology and Genetics 3. Grade
  • English (B1)
  • Vice President of Biological Sciences and Biotechnology Society
  • Organization team at the 1st International Congress of Health Sciences and Biotechnology
  • Organization team of Molecular Biology Genetics and Laboratory Methods Symposium in Forensic Medicine UU
  • UU Stem Cell Symposium Organization Team
  • Participants in the activities of the National Drip Volunteering Project
  • Bioexpo Openlab Professional Online
  • Uşak Environmental Issues Student Approaches Officer
  • Areas of interest: Bioinformatics, gene therapy. microbiology

göksu türker kanatlı

Göksu Türker Kanatlı

  • Uşak University-Molecular Biology and Genetics 3. Grade
  • English (B2)
  • Biological Sciences and Biotechnology Society Social Media Officer
  • Organization team at the 1st International Congress of Health Sciences and Biotechnology
  • Organization team of Molecular Biology Genetics and Laboratory Methods Symposium in Forensic Medicine UU
  • UU Stem Cell Symposium Organization Team
  • Stem Cell Regional Meetings III
  • Areas of interest: neuroscience, bioinformatics, cellular medicine
zeynep koçaslan

Zeynep Koçaslan

  • Istanbul University Biology 3. Grade
  • English (Intermediate)
  • Part-Time Student Assistant at Istanbul University Tissue and Immunohistochemistry Laboratory
  • Internships: Istanbul Çapa Medical Faculty – Bone Marrow Bank Tissue Typing Laboratory
  • Bahçeşehir University – Faculty of Medicine – Medical Biology Laboratory
  • Certificate: ISO 15189 Medical Laboratories – Requirements for Quality and Competence
  • Iso 13485 Medical Devices Quality Management Systems, Iso 17025 Sufficiency of Experiment and Calibration Laboratories and Acre
  • ZEISS- Imaging with Confocal and Super Resolution Microscopes, ZEISS – Airyscan Training in Live Cell Imaging Techniques with Ultra-Precise Super Resolution
  • Computer Skills: Microsoft Access (beginning), SQL (medium)
  • Attended Seminars: Xvi.Iugen Winter School, I.Iugen Biopeak, Kültür University – Science and Career
  • Communities: Istanbul University IUGEN, Istanbul University Biological Sciences, Istanbul University Neuroscience, Bahçeşehir University – Artificial Intelligence Society, Yeşil Society- Member/ Interested in Neuroscience.