PhD studentship in Diagnostics and Bioinformatics of Kidney Genetics

Award Summary

This is a 4-year studentship.   Stipend of £18,873 (stipend may be uplifted subject to confirmation) and home fees. 

Overview

Chronic kidney disease (CKD) is one of the fastest-growing global health challenges, affecting 22% of adults aged 35+. It progresses silently to kidney failure, requiring dialysis or transplant, and significantly raises the risk of early death. 

Up to 30% of CKD cases have a single-gene (monogenic) cause. Understanding these enables precise diagnosis and personalised treatment and offers insight into kidney fibrosis – the final pathway for all CKD. 

One of the most important inherited kidney diseases is Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) caused by mutations in the MUC1 gene. ADTKD-MUC1 is among the most common monogenic kidney diseases, but is frequently misunderstood, forgotten, and missed. As a toxic proteinopathy that leads to progressive fibrosis, it offers a powerful model for studying common pathways in CKD and represents a high-priority condition as new disease-modifying therapies are developed. 

This PhD tackles a key diagnostic bottleneck in ADTKD-MUC1 and integrates precision genomic medicine into routine kidney care. You will build a clinical trial-ready cohort by developing an accurate, scalable sequencing and bioinformatics pipeline, alongside genetic risk stratification, positioning Newcastle as a world leader in ADTKD diagnostics and clinical trials. 

What you’ll do 

You will work at the interface of laboratory and data science, and clinical genetics. 

You will:

• Establish and characterise the UK ADTKD-MUC1 cohort, integrating genetic, clinical, and demographic data for national research and trials.
• Establish high-fidelity MUC1 sequencing using long-range PCR and ultra-deep nanopore sequencing to resolve the complex VNTR region and identify mutations.
• Develop and optimise bioinformatics tools to detect mutations using positive controls.
• Apply polygenic risk scores (PRS) to genome-wide SNP data to identify individuals at highest risk of kidney function decline, aiding trial prioritisation

What you will learn and why it matters 

This PhD provides a rare skill set sought after in academia, biotech, and healthcare innovation, including: 

• Genomic technologies – hands-on experience in long-read sequencing and variant interpretation
• Bioinformatics – pipeline development, visualisation, and statistical modelling
• PRS – applying big data to personalise medicine
• Clinical translation – taking research into real-world healthcare
• Science communication and patient engagement – essential for impact

You will graduate with the expertise to pursue a career in genomic medicine, diagnostic innovation or precision healthcare.

This studentship is part of the LifeArc ARDT, a UK-wide £12m partnership between Newcastle, Birmingham, and Belfast to accelerate rare disease trials. You’ll receive training, engage in translational research, and collaborate across institutions. 

More info: https://rarediseasetrials.org.uk/ 

Number Of Awards: 1

Start Date: September 2025

Award Duration: 4 years

Application Closing Date: 10 August 2025

Sponsor: LifeArc 

Supervisors

Prof John Sayer

Prof Heather Cordell 

Dr Juliana Arcila-Galvis

Eligibility Criteria

• Minimum 2:1 Honours degree or equivalent in Genetics/Bioinformatics/Genomics
• High-level computing skills desirable; MRes advantageous 
• IELTS 6.5 overall (if applicable)
• International students must cover the fee difference

How To Apply

Apply via: https://applyto.newcastle.ac.uk/  

Course code: 8440F; Reference code: TC120 

When asked for a research proposal, select ‘Write Proposal’ and enter the project title (no full proposal needed). 

You may upload a cover letter/CV outlining your relevant interests and experience. 

Please upload degree transcripts/certificates and, if applicable, English language qualification. 

Contact Details:  John.sayer@ncl.ac.uk

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