Spinal Muscular Atrophy

Prize: Best Presentation

Gold Medal

Project Name:

Using CRISPR- Cas9 Technology for Single Nucleotide Correction in Exon1 of SMN1 Gene and Transfer with Electroporation


Spinal Muscular Atrophy (SMA) is a progressive, fatal and hereditary muscle-nerve disease caused by the inadequate production of the SMN protein that enables motor neurons to function, as a result of mutations in the SMN1 and SMN2 genes. The most fatal and common type of SMA, which has many different types, is type1, which is formed as a result of mutations on the SMN1 gene. Compared to SMN2, it is known that SMN1 gene produces more healthy SMN protein. Among many different variants, the incidence and pathogenicity are high; The c.5C> G mutation in exon1 of the SMN1 gene located on chromosome 5 was corrected with CRISPR-Cas9 and primary editing technology. Electroporation method, which transfers into the cell by applying an electrical field, is used. The applied correction procedures were controlled by flow cytometry. For this purpose, pegRNA (primary regulatory guide RNA) was designed and combined with Cas9 enzyme and reverse transcriptase enzyme to form RNP (ribonucleoprotein). RNP was tested in HeLa and SKMC (Human skeletal muscle) cell lines with voltage and time variables to determine the most favorable conditions for the electroporation method. In addition, two different fluorescent proteins; Physical and chemical properties of the cells were determined by flow cytometry using GFP (green fluorescent protein) and mCherry (red fluorescent protein). It has been proven that the detected mutation was corrected and integrated into the cell by Western Blot Analysis technology. As a result of the applications, the point mutation in exon1 was corrected and the production of healthy SMN protein has increased.

Team Members

irem diker

İrem Diker

I am 21 years old. I am a 3rd year student in the Department of Molecular Biology and Genetics at Acıbadem University and a 1st year student in the Pathology Laboratory Technician program. I am academically interested in the molecular mechanisms of diseases, biochemistry and organic chemistry. I speak English and German as my second native language proficiency. I’m interested in music and painting, I play the violin very well. I am on the board of directors of Rare Diseases Club at my school.

neda tatlıoğlu

Neda Tatlıoğlu

I am 21 years old. I am a 3rd grade student in Acıbadem University Molecular Biology and Genetics. I know Turkish, English, Arabic and Spanish. I am on the board of directors of my university’s Foreign Languages and Communication Club. I want to work in the fields of cancer, stem cells and the molecular mechanism of diseases. Apart from my academic life, I am interested in music, cinema and history.

kevser buse karadeniz

Kevser Buse Karadeniz

I am 21 years old. I am a 3rd grade student at Acıbadem University Molecular Biology and Genetics. I am interested in Latin ballroom dances, hiphop and theater. I am a board member of the Dance Club and the school’s molecular biology and genetics club AcuGen. I am also the president of the Drama Club. This year I started studying Business Administration at Istanbul University Open Education Faculty. I want to continue my academic life by improving myself in the fields of bioinformatics and genetic engineering.