by Johanna Raidt & Heymut Omran for the BESTCILIA consortium
* University Hospital Münster, Germany

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by dysfunction of motile cilia associated with a chronic destructive airway disease caused by recurrent infections of the upper and lower airways. Bronchiectasis often progresses to chronic lung failure warranting lung transplant in severely affected individuals.

Royal Society Publishing has recently published a special issue of Philosophical Transactions B entitled Unity and diversity of cilia in locomotion and transport, a Theo Murphy meeting issue compiled and edited by Kirsty Y Wan and Gáspár Jékely.

Professor John Sayer and his team at Newcastle University have recently identified a new modifier gene in Joubert Syndrome, which could become a novel target for a therapy.

The 100,000 Genomes Project launched in 2012 to improve diagnosis and future care for individuals affected by rare diseases like ciliopathies, through whole genome sequencing (WGS).