FABULOUS
Prize: Bronze Medal
Project Name:
A genetic therapy trial for FRDA: excision of expanded GAA repeats
Abstract
Friedreich’s ataxia is a progressive, neurodegenerative, autosomal
recessive genetic disease.FRDA, the most common ataxia in the world,
occurs at a frequency of 1 / 50,000. Also, 1 in 100 people carry the mutant
FXN gene. But these people can live normally. The cause of the disease is
the enlarged GAA repeats that can reach up to 1300 in the first intron of the
FXN gene (9th chromosome 69037283). These repeats disrupt the
chromatin structure of the gene and prevent its transcription.
Thus, the concentration of frataxin, a mitochondrial protein, decreases and
affects the iron metabolism in a bad way. In the clinic of the disease,
neurological, cardiac and metabolism symptoms are observed. Our project
aims to develop genetic therapies for this inherited rare disease. The
CRISPR / CAS9 system, which has revolutionized gene therapy in recent
years, is the backbone of our project. The aim of our project is to excise the
expanded GAA repeats located in the 1st intron of the FXN gene by
targeting them upstream and downstream with double gRNA & SpCAS9 and finally
The correction of the distrupted chromatin structure will happen
While personalized treatments strengthen its place in the medicine of the
future at full speed, we are working to take our place in this trend, thinking
that personalized genetic therapies in the treatment of rare diseases will be
groundbreaking.
Team Members
Zulejha Murati
Istanbul Medeniyet University, Medical School, 3rd grade
Muhammet Hüseyin Sorkun
Istanbul Medeniyet University, Medical School, 3rd grade
Zehra Söylemez
Istanbul Medeniyet University, Medical School, 3rd grade
Ahmet Arda Adıgüzel
Istanbul Medeniyet University, Medical School, 3rd grade
Tahir Utku Bektaş
Istanbul Medeniyet University, Medical School, 3rd grade
Fabulous group was created by five medical students who are actually studying in the 3rd grade at Istanbul Medeniyet University. Zehra Söylemez Zulejha Murati Muhammet Hüseyin Sorkun Tahir Utku Bektaş Ahmet Arda Adiguzel .
We applied to the Rare Disease competition organized by the leadership of Dr. Cihan Taştan and his group.And we decided to do researches about Friedreich’s Ataxia disease.
Friedreich’s ataxia is a rare hereditary disease with multiple system involvement, rarely accompanied by mitochondrial dysfunction and has a predominant neurological aspect.
The disease is caused by a mutation in the frataxin (FXN) gene on chromosome 9.
The genetic mutation is caused by a large number of repetitive “GAA” codons (guanine adenine adenine).
Considering these, we decided to prepare a genetic treatment for this genetic disease as a team.
We have done a lot of researches on this subject.
We had some problems.
There were some issues which we couldn’t understand , but without giving up we tried to create one concrete project.
We believe that those initiatives which started with small steps will grow like a snowball over the years and will achieve meaningful results.
