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).

Genomes

Talk on ciliopathies in the 100,000 Genomes Project

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

Gene editing

Genetic editing breakthrough in Joubert Syndrome

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.