Spinal Muscular Atrophy

Prize: Best Education

Silver Medal

Project Name:

Sma’ya Nadir Yaklaşım


SMA is an autosomal recessive motor-neuron and neuro-muscular disease characterized by the degeneration of spinal motor neurons and caused by low levels of the SMN (survival motor neuron) protein. As a result, motor neurons cannot work and may die, causing muscle weakness and atrophy. SMN proteins are encoded by the SMN1 and SMN2 genes. SMN2 has almost the same sequence as SMN1, except for 5 nucleotides that have no effect on the amino acid sequence of the encoded SMN protein.

Lentiviral vectors are a type of retrovirus. This vector is seen as an effective method for gene therapy as it can alter the expression of its gene in target cells for up to six months. Compared to other vectors, it is more advantageous as it has long-term expression and low immunogenicity. Since the effect of this vector on non-dividing cells such as neurons and the success rate of gene therapy increase, it is expected that the required SMN protein level will be kept under control by increasing SMN2 expression with the lentiviral vector.

SMA has also been associated with mitochondrial dysfunction. Mfn2 is the outer membrane gtpase gene encoding the Mitofusin-2 protein that enables mitochondrial fusion. MFN2 plays a key role in mitochondrial DNA depletion, prevention of ROS formation and ER stress. Some studies demonstrate that MFN2 is used in measuring the quality of mitochondria. Up-regulation of the MFN2 gene has been demonstrated to increase the survival of motor neurons in ALS, which is a neurodegenerative disease like SMA.

Team Member


Ecem Semerci

I’m Ecem SEMERCİ. I graduated from Trakya University, “Genetics and Bioengineering” department. I did my graduation project on “Protein Contact Map”. I have one startup project and my work is still going on. Drug design for rare diseases, bioinformatics, nanoparticles, etc. I have been involved in projects in different fields and continue to do so. I was also on the board of directors of the TU Genetics and Biotechnology community.


Semih Memiş

I’m Semih Memiş. I am a 2th year student at Kocaeli University School Of Medicine. I am a graduate of YetGen 2020 education program and I am active in the Turkish Medical Students Association ( TurkMsic). I like to spend my free time reading and observing.


Şimal Topçu

I’m Şimal TOPÇU. I am a student at Erzurum Technical University Moleculer Biyology And Genetics depertmant 4. grade. Now, I am studying on my Tubitak Project that is “evaluation of antimicrobial activity in Ferula species ”. Besides, I have been studying on the “ Identification of the Roles of POFUT1 and miR-1825 in Human Laryngeal Squamous Cell Carcinoma” Project for 1 year.


Ceren Ay

I’m Ceren AY. I live in Mersin. I graduated from Nevşehir Hacı Bektaş Veli University, ‘Molecular Biology and Genetics’ department. I previously took part in the project ‘Microbial Fertilizer Production Against Drought Stress In Potato Plants’. I aim to work on molecular medicine. Participating in this competition gives me strength.


Kübra Temiz

I’m Kübra Temiz. I am studying as a senior at Adana Science and Technology University, Bioengineering department. I will work on the my TÜBİTAK Project “TiO2 nanofiber biosynthesis with electrospinnig method”. Also, I am studying on potential drugs molecules on several cancer types,