When cells exit the cell cycle, the centrosome docks at the cell membrane, turns into a basal body, and extends the hair-like organelle, the cilium, which is essential in cellular sensing, signalling, and motility. Centrosome structure/number changes can lead to cancer, microcephaly or dwarfism. Cilia defects exert a broad impact, affecting nearly all human organs and these rare genetic diseases are collectively called ciliopathies.
Studying the function of the disease genes linked to the centrosome and ciliary disorders could aid disease diagnosis and the development of new therapies. However, these subcellular structures have long been understudied, partly because their sizes are below the resolution of traditional light microscopy. The emergence of super-resolution microscopy pushes the optical resolution to tens of nanometers, making the visualization of subcellular protein assemblies a viable possibility.
This study will leverage quantitative super-resolution imaging, single-molecule tracking, CRISPR engineering, and other state-of-art techniques to study the organization of centrosome and cilia, genes mutations of which lead to centrosome or cilia defects and to uncover the mechanism of human diseases related to centrosome disorders and ciliopathies.