John Sayer

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Professor of Renal Medicine

Newcastle University

United Kingdom

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About

John Sayer is a Professor of Renal Medicine at Newcastle University, UK. His research focuses on the genetic and molecular mechanisms underlying renal diseases, including nephronophthisis and autosomal dominant polycystic kidney disease. Recent articles authored by Professor Sayer explore topics such as urinary renal epithelial cells for phenotyping, genetic variants linked to kidney conditions, and clinical trials aimed at improving kidney function in disorders like Alport syndrome.

Recent Grants

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Models, modifiers and novel treatments of Joubert Syndrome

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Articles (18)

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2025

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Collaborators (13)

Tomoko Takano

Research Institute of the McGill University Health Centre

CANADA

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Miguel Barroso-Gil

Laboratory teacher (profesor colaborador doctor de prácticas de laboratorio)

Universidad CEU San Pablo

SPAIN

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Thomas Liehr

Jena University Hospital

GERMANY

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Julio Saez-Rodriguez

GERMANY

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Masaomi Nangaku

Graduate School of Medicine, The University of Tokyo

JAPAN

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Guglielmo Schiano

University of Zurich

SWITZERLAND

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Stephen P. McAdoo

Imperial College London

UNITED KINGDOM

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Rafael José Esteban de la Rosa

Profesor Asociado

Universidad de Granada

SPAIN

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Mahnaz Jamee

Leiden University Medical Center

NETHERLANDS

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Ian Wilson

Lecturer in Statistical Genetics

Newcastle University

UNITED KINGDOM

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Zachary Thomas Sentell

McGill University

CANADA

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Andrew J Mallett

University of Queensland

AUSTRALIA

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Julie Saba

Professor

University of California, San Francisco

UNITED STATES

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John Sayer

Research Interests

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Recent Grants

Articles (18)

PKD1 5’UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic development

Urinary renal epithelial cells can be used for NPHP1 phenotyping and a personalized therapeutic strategy

SOX9-dependent fibrosis drives renal function in nephronophthisis

Uromodulin processing in DNAJB11-kidney disease

Copy number analysis from genome sequencing data of 11,754 rare disease parent-child trios: a model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy

A Randomized Controlled Clinical Trial Testing Effects of Lademirsen on Kidney Function Decline in Adults with Alport Syndrome

ANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases

Diverse retinal-kidney phenotypes associated with NPHP1 homozygous whole-gene deletions in patients with kidney failure

Sphingosine phosphate lyase insufficiency syndrome: a systematic review

Many lessons still to learn about autosomal dominant polycystic kidney disease

Re: Genetic Architecture of Azoospermia—Time to Advance the Standard of Care

Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome

Renal ciliopathies: promising drug targets and prospects for clinical trials

Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data

Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features.

Large renal angiomyolipomas in tuberous sclerosis

International Society of Nephrology first consensus guidance for preclinical animal studies in translational nephrology.

Intestinal hypomagnesemia in an Iranian patient with a novel TRPM6 variant: a case report and review of the literature.

Collaborators (13)

Tomoko Takano

Miguel Barroso-Gil

Thomas Liehr

Julio Saez-Rodriguez

Masaomi Nangaku

Guglielmo Schiano

Stephen P. McAdoo

Rafael José Esteban de la Rosa

Mahnaz Jamee

Ian Wilson

Zachary Thomas Sentell

Andrew J Mallett

Julie Saba

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