Professor Tinatin Tkemaladze, Head of the Department of Molecular and Medical Genetics and Dean of the Faculty of Medicine and Associate Professor Eka Kvaratskhelia, Department of Molecular and Medical Genetics of TSMU participated in the 14th Conference of Undiagnosed Disease Network International (UDNI 2025), held in Rio de Janeiro, Brazil, from October 28–31, 2025.
Professor Tinatin Tkemaladze served as a member of the academic faculty and moderated the 6th session, which focused on innovative approaches to the research and diagnosis of undiagnosed diseases. The session covered diverse topics:
• New directions in the study of epigenetic profiles.
• The application of Artificial Intelligence (AI) in genetic research.
• Contemporary challenges in newborn screening.
• Computational methods for structural genomics.
The TSMU delegation presented the following scientific poster abstracts as part of the conference's program:
• "DNA methylation profile of the GSTM3 gene in nasal epithelial cells of Georgian cystic fibrosis patients" (A study conducted within the framework of the Shota Rustaveli National Science Foundation of Georgia Fundamental Research Grant #FR-22-2601).
• "Rare and Ultra-Rare Diseases in Ethnic Minorities from Georgia – Time for New Gene Discovery?"
• "First case of NSD2 deletion from Georgia – Ending the Diagnostic Odyssey."
• "UDPs in South Caucasus Countries: Dream or Reality?"
The event featured the international examination, the European Board Qualification Exam in Essentials of Rare and Undiagnosed Diseases for the first time which was officially accredited by the European Union of Medical Specialists (UEMS). The congress also served to define priority directions for expanding international scientific cooperation and planning joint research projects with leading colleagues in the fields of genetics and epigenetics from the USA, Canada, and Europe.
Professor Tinatin Tkemaladze has been the official representative of Georgia in the UEMS Section of Medical Genetics since 2025.