Our Leadership Team

Prof John Sayer, MD PhD

Director CILIAREN. Professor of Renal Medicine at Newcastle University. Consultant Nephrologist at the Freeman Hospital’s Renal Services Centre. For the past 21 years, John’s work has focsed on studying the genetics and molecular mechanisms underlying inherited renal diseases, particularly cystic kidney diseases and tubular transport disorders.

Research interests:

  • Specialist interest in inherited kidney disease and renal stone disease, in particular cystic kidney disease, Fabry disease, Alport syndrome, tubulopathies and kidney stone disorders.

  • Chair of regional renal genetics clinic and family renal genetics clinic.

  • Within the Translational and Clinical Research Institute at Newcastle University, Professor Sayer’s laboratory studies focus on renal genetics, cystic kidney disease, renal ciliopathies and renal stone formation.

  • Utilisation of physiological and genetic techniques to investigate these conditions and find new therapies.

Prof Pleasantine Mill

Co-director CILIAREN. MRC Investigator at the MRC Human Genetics Unit at the University of Edinburgh. Member of the leadership team at the UK Cilia Network and SAB for Ciliopathy Alliance and PCD Research.

Research interests:

  • Co-lead for the Congenital Anomalies cluster of the National Mouse Genetics Network, which aims to generate and characterise new mouse models of human congenital disorders. The cluster ultimately hopes to provide improved diagnoses and prognoses for patients with congenital anomalies.

  • Phenomics-driven projects which disrupt cilia structure and / or function to undercover underlying genetic changes, understand disease mechanisms and move towards much needed therapeutics for rare disease.

  • Use quantitative imaging across biological scales (from light microscopy through to electron microscopy) to understand how different types of mammalian cilia are assembled and maintained, and how they are disrupted by disease-causing mutations.

  • Utilise genome engineering to mimic patient variants into the genomes of mice to build preclinical mouse models of ciliopathies for translational research and are developing the application of genome editing technologies to correct these patient variants in vivo for “genome surgery” for rare diseases like renal ciliopathies.

Prof Albert Ong, MD PhD

Co-director CILIAREN. Professor of Renal Medicine at the University of Sheffield and Consultant Nephrologist and Clinical Lead for Genetics at the Sheffield Kidney Institute.

His longstanding research focus has been in the study of autosomal dominant polycystic kidney disease (ADPKD), the major ‘ciliopathy’ and the leading genetic cause of kidney failure in man. His group has taken discovery, translational and clinical approaches to understand the molecular basis of cyst formation, develop new treatments for ADPKD and to improve the patient management pathway. He founded and leads specialist services for patients with genetic (‘rare’) kidney diseases and their families at the Sheffield Kidney Institute.

Research interests:

  • understand the molecular basis of cyst formation

  • investigate the determinants of biological variation

  • drug discovery and testing in ADPKD

Audrey Hughes

Co-director CILIAREN. Audrey Hughes is the Patient Involvement and Engagement Officer for the Polycystic Kidney Disease (PKD) Charity UK. She chairs the CILIAREN Patient and Charities Advisory Board (PCAB) and is also a patient herself with ADPKD (autosomal dominant polycystic kidney disease) and PLD (Polycystic Liver Disease).

Audrey has many years of patient involvement and engagement through her volunteering with the PKD Charity, patient associations and more recently through representation in research programmes and advisory groups in the UK including the Ciliopathy Alliance, TheRaCil and RaDaR.

Prof Eamonn Sheridan, MD PhD

Co-director CILIAREN. Professor Sheridan was Medical Director at North East and Yorkshire Genomic Laboratory Hub (GLH), Professor of Clinical Genetics at University of Leeds, and Chair and vice-Chair at The British Society for Genetic Medicine. Prof Sheridan is currently chair of GEL GECIP Board.

His clinical and academic activity was centred on recessive disease in the Pakistani Heritage community in West Yorkshire, and was directed at identifying novel disease genes in paediatric populations, where they used a variety of cutting-edge DNA sequencing techniques.

Professor Sheridan has extensive experience teaching in an academic research setting, as well as experience working within NHS England, NHS Improvement and NHS GLHs.