The nephrotic syndrome cohort (called NephroS) collects clinical and research data on all children with Nephrotic Syndrome in the UK, as well as DNA for genetic analysis. We now intend to discover the extent of genetic variation in this cohort over their whole genome, and map this to detailed disease manifestations (e.g. response to medicines), for clinical use. This is supported as part of the Government’s 100k genomes initiative, and is the first wave of sequencing, which is focusing on rare diseases via the NIHR BRIDGE consortium.

Bioinformatics support is in collaboration with Professor Ian Day, and also Dr Ania Koziell at KCL.

We also developed the first clinically approved gene testing service in the world for SRNS using Next Generation Sequencing.  In addition we have developed a UKGTN approved service for clinical genetic testing for cystinuria.