PCD is an inherited condition present from birth, although it can take some time for diagnosis to be confirmed in affected children. The visiting families included five children of primary/secondary school age, three of which were affected by PCD.
The disease is caused by the failure of cilia to beat. Symptoms include frequent lung infections and hearing problems due to defective mucociliary clearance, as well as heart, lung, gut and spleen structural problems due to impaired development of left-right organ asymmetry.
The Jarman lab uses a fruit fly model of PCD to discover new genetic causes, as well as to understand the cell biological basis of the disease. The Theil lab studies mouse models of Joubert syndrome, a related disease which also affects cilia function.
During the visit, the children had the opportunity to view fruit flies up close, watch an assay that tests the hearing of fruit fly larvae, and observe mouse embryos. Their enthusiasm and constant stream of highly pertinent questions made a great impression on the researchers.
Families and researchers both enjoyed the visit enormously: it was a chance for families to see how fundamental biomedical research can contribute to the understanding of PCD, as well as a great opportunity for lab staff and students to see the ‘human face’ of their research in fruit flies and mice.