Date: Tuesday 23rd July 2025
Time: 12.30 – 13.30
Title: Renal Ciliopathies
Speaker: Professor John Sayer, Newcastle University.
Biography: Prof John Sayer is an academic nephrologist and renal consultant. His clinical and research work focuses on studying the genetics and molecular mechanisms and treatment of inherited renal diseases, particularly cystic kidney diseases and tubular transport disorders. He leads the CILIAREN Rare Disease Node which aims to connect stakeholders to improve the identification, diagnosis and management of patients with renal ciliopathies and drive innovation for novel therapies for all renal ciliopathies, common to ultra-rare.
Abstract: A paradigm states that all genes which are mutated in cystic kidney disease express their protein products in the primary cilia/basal body/centrosome. This implicates the primary cilium and its signalling pathways in the pathophysiology of kidney cyst formation.
In order to understand renal ciliopathies I utilise cellular and animal models to mimic the disease in kidney. These include functional epithelial cell models, developmental models involving Danio rerio and murine knockout models. We have also established the use of human urine-derived renal epithelial cells for deep phenotyping of patients. All these approaches have allowed us to make steps towards translational therapies for renal ciliopathies.
Location: St Mary’s Hospital, Oxford Road, Manchester.
Cost: Free
Registration: If you would like to attend this lunchtime seminar session, please contact: mrcc@mft.nhs.uk