PhD Studentship in Rare Kidney Disease (Non-Clinical) Nephronophthisis - Novel Treatments to STOP Disease

Award Summary

100% of home tuition fees paid and an annual stipend (living expenses) of £21,805 (Year 1). Successful international candidates will be required to fund the difference between the home fees and international fees

Overview

Nephronophthisis (NPHP) is a severe autosomal recessive kidney disease that leads to progressive renal failure, with a median onset around 13 years of age. Currently, no disease-modifying therapies, either pharmacological or genetic, are available for NPHP. This study aims to apply deep phenotyping of urine-derived renal epithelial cells (URECs) from NPHP patients to evaluate the efficacy of nonsense read-through drugs, which are designed to override premature stop codons in mutated genes. Specifically, we will characterize the primary ciliary phenotype in URECs carrying nonsense mutations in key NPHP genes, including CEP290 (alias NPHP6) and INVS (alias NPHP2), and assess their response to a novel nonsense read-through compound. By characterising individual patients URECs at a phenotypic and transcriptional level, the URECs themselves would become a real time biomarker of therapeutic success for any subsequent clinical therapy. To validate use of nonsense read-through as a treatment for NPHP, we will utilize a Cep290 animal model of NPHP to examine the in vivo effects of this approach. This study will generate proof-of-concept and preclinical data to support the development of a clinical trial, positioning URECs as a potential biomarker for predicting therapeutic success in nonsense read-through treatments for NPHP

Number Of Awards

1

Start Date

21st September 2026

Award Duration

3.5 Years

Application Closing Date

9th June 2026

Sponsor

Kidney Research UK

Supervisors

Professor John Sayer

Eligibility Criteria

You must have, or expect to achieve, at least a 2:1 honours degree or international equivalent, in a subject relating to human genetics or molecular biology. Further qualification such as an MRes is advantageous.

• This award is available to home and international applicants. Successful international candidates will be required to make up the difference between home fees and international fees.
• English Language requirements: IELTS 6.5 overall, with 5.5 or more in each sub-skill.