Rare genetic diseases were discussed at Kastamonu University.

A panel organized by Kastamonu University and the University of Salamanca in Spain addressed rare genetic diseases.

The “Rare Genetic Diseases” panel, organized with international participation in collaboration with the Faculty of Science at Kastamonu University and the University of Salamanca in Spain, was held at the Hoca Ahmet Yesevi Cultural Center. The panel discussed the scientific and clinical aspects of rare genetic diseases in detail. It attracted great interest from expert scientists in the field and students.

Prof. Dr. Barış Bani from Kastamonu University moderated the panel. Prof. Dr. Bani opened the event by emphasizing the importance of diagnosis, treatment, and research of rare genetic diseases. He highlighted the complexity of diagnosis and treatment processes due to the hereditary nature and low prevalence of such diseases.

Prof. Dr. Jesus Lacal Romero from the University of Salamanca participated in the panel with his talk titled “Reproducing Rasopathy Patient-Specific DNA Variants for In Vitro Cellular and Molecular Analysis.” Prof. Dr. Lacal shared his studies on the laboratory analysis of patient-focused DNA variants in rare genetic diseases known as rasopathies. He stated in his presentation that such research contributes to understanding these diseases at the molecular level.

Kastamonu University Biology Department Head Prof. Dr. Ergin Murat Altuner delivered a presentation titled “The Other Side of the Coin in Rare Diseases: The Intersection of Infections and Rare Diseases,” in which he conveyed the connection between infections and rare diseases and the intersection points of these two areas to the participants. In his presentation, Altuner detailed the role of the immune system in rare diseases and the effects of infections on these diseases.

Dr. Aslı Uğurlu Bayarslan, a lecturer, also presented on “The Role of Macrophages in the Inflammatory and Neurodegenerative Pathways of Multiple Sclerosis.”