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).

Dr Gabrielle Wheway presented on 'Ciliopathies and the 100,000 Genomes' at the Ciliopathy Alliance AGM in March 2019.