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.
Joubert syndrome primarily affects children from a very early age. It is an inherited condition that leads to kidney failure, blindness and brain developmental abnormalities.