On March 13-19, 2023 Prof. Tinatin Tkemaladze Head of the Department of Molecular and Medical Genetics at Tbilisi State Medical University participated in the AnnualClinical Genetics Meeting (ACMG) 2023 (USA). 

The Georgian scientist presented an abstract at the conference and an oral presentation “An undiagnosed case -  gain-of-function or loss-of-function mutation - what else? “at the plenary session. The report was interesting for the attendees and the discussion was held. It was proposed that the patient might have a new, unknown gene mutation. Some world leading scientists expressed their interest in the research. They highlighted the importance of collaboration to conduct further genetic and functional studies.  

Within the framework of the visit TSMU Department of Molecular and Medical Genetics and the Georgian Society of Medical Genetics and Epigenetics presented a report about their activities at the American Society of Human Genetics meeting. At the meeting of the rare diseases organization FDNA publication of joint research articles were planned in high impact factor journals. The publications will describe the effectiveness of artificial intelligence program Face2Gene in the diagnostics of rare diseases.  

Prof. Tinatin Tkemaladze also met representatives of the artificial intelligence platform Bone2Gene. The platform is effectively used to determine age and gender of a skeleton with the wrist X-ray images. Currently, the scientists are working on analysis of rare diseases of the musculoskeletal system. In April, 2023 an international grant project is planned to be presented. Prof. Tinatin Tkemaladze is one of the main collaborators of the project. 

The Georgian professor also met Norwegian genetics. Prof. Tinatin Tkemaladze has been working with Norwegian colleagues on the project “The post-exome clinic: improving the impact of exome sequencing for developmental disorders” since January 2023. The project is financially supported by the Norwegian Advisory Unit on Rare Diseases. Within the framework of the project undiagnosed Georgian patients will undergo genetic analyzes free of charge. The outcomes of the research will be published in the high impact factor scientific journals. A joint publication with the Manchester Rare Conditions Centre genetics was planned during the visit. The publication will be focused on the results of Whole-Genome Methylation Analysis of 70 Georgian patients with the neurodevelopmental delay.