Institute of Molecular Genetics of the Czech Academy of Sciences
Primary cilia are microtubule-based membrane protrusions present on the surface of most cells, excluding those of haematopoietic origin. Once considered a vestigial structure, primary cilia are now recognized as crucial cellular signalling hubs that sense environmental cues, playing essential roles in organ development and function via transducing the key signalling pathways, such as Sonic Hedgehog and WNT. Primary cilia are highly dynamic organelles, undergoing growth, shrinkage, and membrane vesicle removal in an actin-dependent manner during signal transduction and across the cell cycle. Defects in primary cilia can thus lead both to pleiotropic human diseases – ciliopathies, and to cancer development. One such disorder is Bardet-Biedl Syndrome, a ciliopathy caused by the dysfunctional ciliary cargo adaptor complex BBSome. Bardet-Biedl Syndrome manifests in a range of phenotypes, including obesity and anomalies in the retina, kidneys, reproductive organs, and cognitive behavior.
Our research focuses on understanding the dynamics of cilia during cell signalling and their impact on cellular functions under both healthy and pathological conditions. We study the dynamics and functions of primary cilia in various tissues, including the retina, kidney cells, bone marrow mesenchymal stem cells, and embryonic fibroblasts. Leveraging mouse models of ciliopathies, such as Bardet-Biedl Syndrome, alongside patient-derived data, we aim to elucidate the molecular mechanisms underlying ciliary dysfunction.
Our ongoing projects include:
Our studies aim to advance our understanding of how primary cilia contribute to organ development and function, while providing insights into potential therapeutic approaches for ciliopathies and related diseases.
