'Rare Genetic Diseases Panel,' organized by Kastamonu University Faculty of Science with international participation, was held on 30 October 2024 at Hoca Ahmet Yesevi Cultural Center. The panel discussed the scientific and clinical aspects of rare genetic diseases. The event attracted significant interest from expert scientists and students.
The moderator of the panel was Prof. Dr. Barış Bani from our University. Prof. Dr. Bani opened the event by highlighting the importance of diagnosing, treating, and researching rare genetic diseases. He emphasized the complexity of diagnosis and treatment processes because such diseases are usually inherited and are seen with low frequency.
Prof. Dr. Jesus Lacal Romero from the University of Salamanca, Spain, participated in the panel with his speech 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-specific DNA variants in rare genetic diseases known as rasopathy. In his presentation, he stated that such research contributes to understanding diseases at the molecular level.
At the event, Prof. Dr. Ergin Murat Altuner, Head of the Department of Biology of our University, gave a presentation titled 'The Other Side of the Coin in Rare Diseases: The Intersection of Infection and Rare Diseases.' Prof. Dr. Altuner explained the connection between infections and rare diseases and the intersection points of these two fields to the participants. In his presentation, he detailed the immune system's role in rare diseases and the effects of infections on these diseases. In addition, Dr. Lecturer. Prof. Dr. Aslı Uğurlu Bayarslan presented on 'The Role of Macrophages in Inflammatory and Neurodegenerative Pathways of Multiple Sclerosis.'
The panel ended after a collective photo shoot in memory of the day and a certificate of appreciation presentation.
