A scientific study conducted by researchers from Hacettepe University, aiming to shed light on a long-standing fundamental question in Familial Mediterranean Fever (FMF), has been accepted for publication in Annals of the Rheumatic Diseases (impact factor: 20.6) (DOI: 10.1016/j.ard.2025.08.001). The findings of the study were also presented as an oral presentation at the European Congress of Pediatric Rheumatology (PReS/YIM), where it received the Best Translational Research Presentation Award. The project was carried out under the leadership of Prof. Dr. Seza Özen, with support from the TÜBİTAK 2247 National Leading Researchers Program, which is specifically designed for recipients of the TÜBİTAK Science Award.
Assoc. Prof. Dr. Erdal Sağ, faculty member at Hacettepe University Faculty of Medicine, shared the following insights:
“Although FMF has been defined as an autosomal recessive disease, the occurrence of disease phenotypes in individuals carrying a single mutation has long been an important unanswered question in the scientific community. In this study, we compared samples obtained from heterozygous carriers, homozygous patients, and healthy individuals to elucidate the molecular mechanism underlying this phenomenon.
Our findings revealed that the type I interferon (IFN) response acts as a ‘second hit’ mechanism in heterozygous individuals, leading to increased Pyrin expression and, consequently, clinical manifestations. These results not only provide a new perspective on the pathogenesis of FMF but also represent a significant step forward in clinical classification and targeted therapies.”
One of the remarkable aspects of this study is that nearly all experiments were conducted at the Hacettepe University Translational Medicine Laboratory, which exemplifies the strong collaboration between the Division of Pediatric Rheumatology and the Department of Medical Genetics. Established about six years ago with support from FOREUM, the research fund of the European Alliance of Associations for Rheumatology (EULAR), this laboratory has been continuously developed through various international projects and the university’s infrastructure support. It has rapidly produced high-quality scientific outputs and has become a model for translational research by ensuring the active participation of young researchers.
Today, the laboratory has evolved into a robust research center capable of conducting advanced transcriptomic, proteomic, and functional studies in the field of autoinflammatory diseases in Türkiye.
This study also holds great significance as it demonstrates that the research infrastructure at Hacettepe University provides a solid foundation for producing publications with high international impact. By effectively combining its research capacity with national and international funding opportunities, Hacettepe University continues to generate studies that make a significant contribution to the global scientific literature.
