PHD studentship in Genomics - Systematic resolution of exome-negative neuromuscular patients through genome and transcriptome analysis

About the Project

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

September 2026

Award duration

The funding covers a four-year PhD

Application closing date

18 May 2026

Sponsor

Henry Miller/Jacobson Foundation

Faculty of Medical Sciences, Newcastle University

Name of supervisor/s

Principal Supervisor: Dr Ana Töpf

Co Supervisors: Professor Diaz Manera and Professor Straub