On June 10-13, 2023 Professor Tinatin Tkemaladze, Head of the Department of Molecular and Medical Genetics of Tbilisi State Medical University and Assoc. Prof. Ekaterine Kvaratskhelia participated in the conference organized by the European Society of Human Genetics - ESHG 2023 (Glasgow, Scotland).
Georgian scientists participated in diverse scientific activities organized by the European Society of Human Genetics and presented poster reports. 10th semester student of the Faculty of Medicine, Sandro Surmava and PhD student of the Department of Molecular and Medical Genetics of TSMU also participated in the conference. The studies presented by the Georgian delegation were conducted in the Human Genome and Epigenome Laboratory of the TSMU Department of Molecular and Medical Genetics and TSMU G. Zhvania Pediatric Academic Clinic.
Professor Tinatin Tkemaladze presented two poster reports. One of the reports was presented at the 3billion Satellite symposium and the second report was presented in the section of Dysmorphology of the European Society of Human Genetics conference.
The submitted case was analyzed in collaboration with a rare disease artificial intelligence GestaltMatcher. The case was widely discussed by the morphologists. Supposedly the patients might have a new undescribed gene mutation. Georgian professor was also a moderator of one of the sections of the symposium and participated in the meeting of the European Society of Human Genetics Council. One of the issues of the council agenda was Georgia’s further participation opportunities in European projects.
Assoc. Prof. Eka Kvaratskhelia took part in the National Human Genetic Society meetings and presented activities developed by the TSMU Molecular and Medical Genetics Department and Georgian Society of Medical Genetics and Epigenetics. Moreover, Assoc. Prof. Eka Kvaratskhelia presented an innovative project “Arte Genome” implemented at Tbilisi State Medical University.
On June 16-19, 2023 Professor Tinatin Tkemaladze as a member of Undiagnosed Disease Network International (UDNI) participated in the first Global Undiagnosed Disease Hackathon-2023, organized by Karolinska Undiagnosed Diseases Program – UDP, PhenoTips and Wilhelm Foundation in the Karolinska University Hospital (Stockholm, Sweden). The multidisciplinary expert team worked in collaboration to discuss cases of patients with undiagnosed conditions. Professor Tinatin Tkemaladze presented the case of an undiagnosed patient. Scope of further research activities were also planned in partnership with international experts.
