Professor Tinatin
Tkemaladze, Dean of the Faculty of Medicine and Head of the Department of
Molecular and Medical Genetics of Tbilisi State Medical University,
participated in the 3rd Undiagnosed Diseases Hackathon, held at Mayo
Clinic, Rochester, Minnesota, USA. The event took place on September
21–24 and was organized by the Wilhelm Foundation.
The main
objectives of the hackathon were to:
- Establish diagnoses for patients with undiagnosed
diseases through multidisciplinary collaboration, utilizing advanced
omics technologies and bioinformatic analysis;
- Promote knowledge sharing and cross-disciplinary
cooperation in the study of undiagnosed diseases, including phenotyping;
- Evaluate the role of artificial intelligence (AI)
and machine learning, tools in disease identification, as well as
assess the effectiveness of integrated instruments combining genomic
technologies, clinical phenotyping and related methodologies.
“This is a truly
unique event where leading clinicians, bioinformaticians, molecular biologists,
scientists and developers from around the world work together as a
multidisciplinary team to identify diagnoses for undiagnosed patients,”
— stated Professor Tinatin Tkemaladze, Dean of the Faculty of Medicine.
The organizing
committee selected 30 undiagnosed patient cases for the hackathon,
including a Georgian patient’s case presented by Professor Tkemaladze.
Prior to the event, blood samples were sent to the Mayo Clinic, where
comprehensive whole-genome sequencing (WGS) and RNA sequencing
(RNA-seq) analyses were conducted using cutting-edge technologies.
As a result of the
hackathon, diagnoses were successfully established for six patients,
while additional studies are being carried out for eight others to
confirm final diagnoses. Among the diagnosed cases was the Georgian patient
presented by Professor Tkemaladze, who was found to carry an extremely rare
mutation in the HNRNPR gene.
On 24 September,
the Rare Diseases Symposium was held at the Mayo Clinic, where Professor
Tkemaladze also participated as Dean of the Faculty of Medicine and Head of the
Department of Molecular and Medical Genetics at TSMU. During the hackathon and
symposium, participants outlined prospective directions for joint
international projects and publications, particularly focused on Georgia’s
involvement in global research on rare and genetic diseases.
