A new, genetic diagnostic service for ciliopathy disorders has been launched

In a collaboration between Great Ormond Street Hospital (GOSH) North-East Thames Regional Genetics and the UCL Institute of Child Health, a new genetic diagnostic service for ciliopathy disorders has been launched for service delivery to the NHS.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.