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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).

Ciliopathy Alliance trustee Professor Hannah Mitchison and member Dr Gabrielle Wheway co-authored a Frontiers review with Genomics England in March 2019. They reported on progress at that time and discussed the potential promise and medical impact of WGS for ciliopathies, including the ethical, medical and technical aspects.

Visit Frontiers to read the review (open access).