Gözde İmren, lecturer at the Department of Medical Genetics of our Faculty of Medicine, has carried out an important study that sheds light on the genetic basis of spondyloepimetaphyseal dysplasia and uses CRISPR-Cas9 genome editing technology. The study titled ‘Unraveling the Role of RSPRY1 in TGF-β Pathway Dysregulation: Insights into the Pathogenesis of Spondyloepimetaphyseal Dysplasia’ was published in the Q1 category of the International Journal of Molecular Sciences (IJMS), a prestigious journal in the field of molecular biology with the title ‘Rare Diseases Associated with Short Stature: Genetics, Pathogenesis and Therapy’ special issue.
This doctoral thesis research, conducted under the supervision of Assoc. Prof. Dr. Ekim Taşkıran, within the scope of the Hacettepe University Institute of Health Sciences Basic Surgical Research Doctoral Programme, examines how mutations in the RSPRY1 gene affect the TGF-β signaling pathway using genome editing technique in human primary cells and by which mechanism this disrupts skeletal development and leads to spondyloepimetaphyseal dysplasia.
This study provides important findings that may contribute to a better understanding of the genetic basis of the disease and the development of new treatment strategies using CRISPR-Cas9 technology. In particular, using CRISPR-Cas9 in human primary cells is an important step towards personalized medicine approaches in treating the disease.
In addition, YÖK 100/2000 Doctoral Fellowship Programme and the Hacettepe University Scientific Research Projects Coordination Unit (BAP) supported different stages of this research.