BESTCILIA established the first evidence-based pharmacotherapy for the rare disease primary ciliary dyskinesia

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.


Unity and diversity of cilia in locomotion and transport

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.

Leanne, mother of two Joubert children, with Professor John Sayer's team at Newcastle University

Targeting a new modifier gene in Joubert Syndrome offers hope for a therapy

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.

Genome sequencing device

Opportunities and challenges for molecular understanding of ciliopathies – the100,000 Genomes Project

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).