Ciliopathies are rare inherited conditions caused by defects of cilia, hairlike microscopic extensions present on most cells in the human body. Cilia play important roles in development and disease through a diverse number of cell motility and signalling functions. Collectively, ciliopathies cause a significant number of complex and often lethal syndromes with diverse features that include skeletal anomalies, cystic kidney disease, retinal degeneration, obstructive respiratory disease, polydactyly, neurological defects, and problems in left-right axis determination of the internal organs that are associated with heart defects.
A panel of over 120 causal ciliopathy disease genes is now available for screening in affected individuals – in a recent pilot study, more than 60% of well-defined ciliopathy cases were diagnosed using this panel. In parallel, these genes form part of a larger gene panel currently in use in Dr Hannah Mitchison’s lab at ICH for further discovery of new ciliopathy genes. They also form the basis for pre-screening patients prior to entry into the Genomics England 100,000 Genomes Project.
This research was funded by Action Medical Research and GOSH Children’s Charity. Dr Hannah Mitchison is a BRC-supported researcher.