The renal ciliopathies national network (RCNN) has a bold and innovative vision for improving the care of children and adults affected by renal ciliopathies. Representing a diverse group of genetic diseases which are rare on their own, collectively the renal ciliopathies represent a significant unmet challenge for our health care system. They also present a significant opportunity for innovation and investment by aligning these cohorts to exploit our expertise in molecular diagnostics, deep clinical phenotyping and disease modelling to accelerate development of novel therapeutics.

The vision of the RCNN node is to develop a national network and framework to improve the identification, diagnosis and management of patients with renal ciliopathies and the education and training of medical practitioners caring for these patients.

We will use the paradigm of the commonest renal ciliopathy, ADPKD, where recognition, molecular diagnosis and pathways to clinical trials (including links to pharma) is more advanced, to create a national framework for the identification of other renal ciliopathies including ARPKD, NPHP and syndromic forms of renal ciliopathies such as Bardet Biedl syndrome (BBS) and Joubert syndrome (JS).