Our team is based in a lab in BIOCEV being a part of Research Unit of Rare Diseases (First Faculty of Medicine in Charles University). We aim to characterize functional effects of genetic variants identified in patients suffering rare diseases.
The goal of the current project is to examine properties of mutant proteins involved in gene expression (transcription factors, histone methyltransferases) and lipid metabolism (apolipoproteins).
Ph.D. project includes molecular cloning, protein purification followed by their functional characterization. Reconstituted biolomolecules will be analysed by functional assays (enzyme activity, intermolecular interactions) and structural techniques (mass spectrometry, diffraction techniques and advanced microscopy). Obtained results will be correlated with clinical symptoms of the patients.