PhD studentship in Genomics - Systematic Resolution of Exome-negative Neuromuscular Patients through Genome and Transcriptome Analysis

Award summary

100% of home tuition fees paid and annual stipend (living expenses) of £21,805

Additional funding is given to cover research costs

Overview

Are you interested in understanding the underlying genetics of rare diseases? This PhD will explore the causes of genetic neuromuscular conditions applying whole genome sequencing and RNA profiling to identify cryptic DNA variants not usually find in standard analysis.

Whole exome sequencing (WES) has transformed the diagnosis of inherited neuromuscular diseases (NMD), yet many patients remain without a genetic answer even after extensive testing. This project tackles that diagnostic gap by focusing on the pathogenic mechanisms that routinely escape WES, such as splice and regulatory variants, structural rearrangements, and variants in genes not yet associated to NMD. Long‑read and RNA‑sequencing technologies are now able to help detect these hidden mechanisms.

The PhD will apply a tiered, hypothesis‑driven framework across several well-defined patient groups, including recessive cases with only one identified pathogenic variant, large families suitable for segregation analysis, and consanguineous pedigrees. By integrating whole genome sequencing, RNA‑seq, and selective long‑read sequencing, the student will identify cryptic genetic causes, increase diagnostic yield, and contribute to new gene‑disease discoveries.

The student will gain experience in genome interpretation, transcriptomics, and functional validation using patient‑derived biomaterial. Thay will be working in an international centre specialised in genetic neuromuscular diseases combining clinical and basic researchers, providing the opportunity to interact with several professional expert in different aspects of these diseases.

Number of awards: 1

Start date: 21/09/2026

Award duration: 4 years

Sponsor

Henry Miller/Jacobson Foundation Faculty of Medical Sciences, Newcastle University

Supervisors

Dr Ana Töpf Professor Diaz Manera Professor Straub

Eligibility criteria

You must have a 2:1 honours degree, or international equivalent, in a relevant subject, including Biomedical Sciences, Biomedical Genetics, etc. A further qualification, such as a MSci or MRes with strong research training element would be highly advantageous.

If your first language is not English you need an overall IELTS score of 6.5 (at least 5.5 in all sub-skills) or equivalent language qualification.

International applicants may require an ATAS (Academic Technology Approval Scheme) clearance certificate prior to obtaining their visa and to study on this programme.

How to apply

You must apply through the University’s Apply to Newcastle Portal

In ‘Course choice’ tab, put ‘Postgraduate Research’ in 'Type of Study', ‘Full Time’ in ‘Mode of Study’, ‘2026’ in ‘Year of Entry’, code ‘8440F’ in ‘Course Title’, blank in ‘Research Area’. Press ‘Search’, select ‘PhD Translational and Clinical Research (FT)’, and save selection.

Either upload a document or write into ‘Personal Statement’. Put code ‘TC129’ in ‘Studentship/Partnership Reference’. When prompted for research proposal, select ‘Write Proposal’. Type in the title of the research project from this advert. A research proposal is not required. You can also upload a covering letter and CV, please state how your interests and experience relate to the project.

You must submit one application per studentship; you cannot apply for multiple studentships on one application.

Contact details

Dr Ana Töpf
John Walton Muscular Dystrophy Research Centre
Translational and Clinical Research Institute

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