5 - GEN

Spinal Muscular Atrophy

Prize: RaDiChal 2020 Champion

Champion of SMA Teams

Best Poster

Project Name:

Increasing SMN2 Gene Activity and SMN Protein Expression by Correcting c.840 C>T Transition and Providing c.859 G>C Conversion with Prime Editing


Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by alpha motor neuron loss and muscle atrophy. 95% of SMA patients have exon 7 deletions in the SMN1 gene located on the 5th chromosome. Exon 7 of the SMN2 gene, which is the centromeric copy of SMN1, cannot express full-length and sufficient amount of functional SMN protein due to c.840 C> T transformation. The c.859G> C transformation found in exon 7 in the SMN2 gene has been defined as a positive modifier affecting the phenotypic severity of SMA disease. It is known that there is a relationship between the number of copies of the SMN2 gene and the course and phenotype of the disease. Therefore, the SMN2 gene is an important therapeutic target for SMA disease. The prime editing method, which has recently emerged as a new CRISPR type and can be used in all base changes, has been defined with a very low rate of secondary damage to the genome. The aim of this project is to correct the c.840C> T transition in exon 7 of the SMN2 gene in fibroblast cells taken from SMA patients, and thus to provide SMN protein expression at or close to the SMN1 level over the SMN2 gene. In addition, it is aimed to achieve a combined therapy approach with a positive regulator that will increase the efficiency of SMN2 as a result of providing c.859G> C conversion with prime editing method. For this purpose, a plasmid vector designed for prime editing, containing two pegRNAs suitable for combined therapy and the necessary markers, will be used. Gene transfer with electroporation was preferred due to its simple use in in vitro experiments, but considering its disadvantages, the adeno-associated virus gene transfer method was also planned for in vivo and clinical trials. In the case of a mishap at the end of the experiments, instead of the combined therapy, two separate plasmids will be designed for both therapies and the same business plan will be realized through this process.



Team Members

Ayşe Simay Metin

Ayse Simay METİN

I have been studying since 2017 Molecular Biology and Genetics at Istanbul Kultur University. Also I’m studying Sociology at Istanbul University. I have been studying on a database for rare diseases for 2 years. Also I studying on stem cells and DNA repair mechanisms. I published an article in an international refereed symposium proceedings book in Ukraine. I still continue to work towards combining science and art…

Linkedin: http://linkedin.com/in/ayşe-simay-metin

ResearchGate: https://www.researchgate.net/profile/Ayse_Metin3

Email: simaymetin97@gmail.com

ebrar karakaya


I am a student at Istanbul Kultur University Molecular Biology and Genetics department at last grade and I am a 2nd-year student at Istanbul University Business Administration department. I took part as an undergraduate student in a project about pancreatic cancer which is conducted by Prof. Dr. Elif Damla Arısan in laboratory of Molecular Biology and Genetics department of İstanbul Kültür University. Plus, I used to teach some courses for high school students before Pandemic of Covid-19. There are many areas that interest me and I cannot decide for the future.

To communicate:

Email: ebrar.karakayaaa@gmail.com

Linkedin: https://www.linkedin.com/in/ebrar-karakaya-793a6814a/

Researchgate: https://www.researchgate.net/profile/Ebrar_Karakaya

enes bal

Enes BAL

I am a 4th-year undergraduate student at Istanbul Kültür University, Department of Molecular Biology and Genetics. During my undergraduate education, I worked as a student researcher in Istanbul Kültür University Molecular Cancer Biology Laboratory on breast cancer and various thesis studies. In addition, I have a 2209-A Tubitak project titled “Investigation of Increasing the Therapeutic Effectiveness of Tryptolide with AS1411 Aptamer in MDA-MB-231 Breast Cancer Cells”, which I conducted under the consultancy of Prof. Dr.Ajda ÇOKER GÜRKAN. In the future, I would like to work on cancer immunotherapy, immunology and embryology.

LinkedIn: http://linkedin.com/in/enes-bal-0490b9184

Email: enes.bal.98@gmail.com

gamze yelgen


I am a 4th-year undergraduate student at Istanbul Kültür University, Department of Molecular Biology and Genetics. Until the pandemic process, I actively took part in many different studies, including thesis and projects, as a researcher in Istanbul Kültür University Cancer Laboratory. I have a 2209-A TUBITAK project on breast cancer, which I have completed with the supervision of Prof. Dr. Ajda ÇOKER GÜRKAN, called “Investigation of Increasing the Therapeutic Effectiveness of Tryptolide with AS1411 Aptamer in MDA-MB-231 Breast Cancer Cells”. I want to work in the fields of embryology and drug research and development, which are my area of interest in the future.

LinkedIn: http://linkedin.com/in/gamze-yelgen-2540a6194

Email: gamzeyelgen@gmail.com

sibel pınar odabaş

Sibel Pınar ODABAŞ

I am a 4th-year student at Istanbul Kültür University, Department of Molecular Biology and Genetics. I was actively working in the Molecular Cancer Biology laboratory of Istanbul Kültür University until the pandemic process. Assoc. Prof. Pınar OBAKAN YERLİKAYA under the supervision of TUBITAK 2209-A research project, I took part in the project titled “The effect of DNA replication inhibitor and epibrassinolide combination on apoptotic cell death in pancreatic cancer cells” and completed it. I am also the president of Istanbul Kultur University Molecular Biology and Genetics Club. I want to work in the field of genetic engineering in the future.

LinkedIn: linkedin.com/in/sibel-pınar-odabaş-9b929b1a0

E-mail: sibelodabas21@gmail.com