Rare and Undiagnosed Diseases Group
The Rare and Undiagnosed Diseases Group conducts comprehensive research into the genetic and molecular basis of rare diseases and rare cancers. Using omics approaches such as genomics, transcriptomics, and epigenomics, along with functional analyses and deep phenotyping techniques, the group identifies disease- causing genes and molecular mechanisms. The functions of disease-associated genes are characterized and understood in detail at the cellular and molecular levels. To investigate disease mechanisms and evaluate potential therapeutic strategies, in silico, in vitro, and in vivo models are actively used. Studies conducted particularly in transgenic mouse and zebrafish models significantly contribute to basic and translational research, laying the groundwork for the development of new biomarkers and therapeutic approaches.
