Between lipid membrane integrity and ferroptosis: Understanding the role of LPCAT3 in the pathogenesis of Limb-girdle muscular dystrophies.

About the Project

Limb-girdle muscular dystrophies (LGMDs) are a group of inherited muscle diseases that cause progressive weakness and disability, yet many affected individuals still do not receive a genetic diagnosis. This PhD project will investigate a potentially new genetic cause of LGMD and explore how disruption of membrane lipid biology may drive muscle degeneration through ferroptosis, an emerging iron-dependent form of regulated cell death.

Preliminary work at the John Walton Muscular Dystrophy Research Centre has identified biallelic variants in LPCAT3 in two unrelated families with an LGMD-like phenotype, suggesting a novel disease mechanism linking phospholipid remodelling, oxidative stress, and muscle pathology. This project offers an exciting opportunity to define a new form of muscular dystrophy while addressing fundamental questions in rare disease biology with potential translational relevance.

The student will work across human genomics, deep phenotyping, transcriptomics, cell biology, and metabolic assays to:

1. identify and validate additional LPCAT3 variants in large genomic datasets
2. define the clinical, pathological, and molecular features of LPCAT3-related muscle disease
3. generate and study cellular models to investigate phospholipid remodelling, lipid peroxidation, and ferroptosis sensitivity
4. explore links between membrane lipid defects, mitochondrial metabolism, and oxidative stress

This is an ideal project for a student who wants broad interdisciplinary training in rare disease genomics and experimental biology. The student will join the John Walton Muscular Dystrophy Research Centre at Newcastle University, a leading centre for neuromuscular research with a collaborative community of PhD students, postdoctoral researchers, clinicians, and scientists. Training will include next-generation sequencing analysis, interpretation of rare disease variants, transcriptomic data integration, CRISPR-based cellular modelling, lipid and metabolic assays, and exposure to translational and patient-focused research.

The student will be supervised by Prof Volker Straub, Dr Philipp Heher and Dr Ana Töpf providing complementary expertise in neuromuscular disease, genomics, and lipid peroxidation/metabolic biology. This combination offers a unique opportunity to train at the interface of clinical research and discovery science.

Applicants should hold, or expect to obtain, a good Honours degree or Master’s degree in genetics, molecular biology, biochemistry, biomedical sciences, or a related discipline. Previous experience in genomics, cell culture and molecular biology would be advantageous, but a real interest in rare disease research and willingness to develop new skills are essential.

Funding

Students who have, or are expecting to attain, at least an upper second-class honours degree (or equivalent) in a relevant subject, are invited to apply. Funding is available for Home (UK) students to cover tuition fees, a tax-free stipend at the UKRI rate (indicative amount in year 1 in 2026-27, £21,805) and research costs, for four years. Applicants normally required to cover International fees will have to cover the difference between the Home and the International tuition fee rates. There is no additional funding available to cover NHS Immigration Health Surcharge (IHS) costs, visa costs, flights etc.

Funding for this studentship is awarded on a competitive basis and is not guaranteed; availability will depend on the outcome of the selection process and subject to final approval by the University.

HOW TO APPLY

Please complete the following application form – Google Form

Applicants can only apply for 1 project; any additional applications will not be accepted.

Applicants should send the following documents to FMSstudentships@newcastle.ac.uk:

• a CV (including contact details of at least two academic (or other relevant) referees).
• a Cover letter – stating your project choice, as well as including additional information you feel is pertinent to your application.
• copies of your relevant undergraduate degree transcripts and certificates.
• a copy of your IELTS or TOEFL English language certificate (where required)
• a copy of your passport (photo page).

A GUIDE TO THE FORMAT REQUIRED FOR THE APPLICATION DOCUMENTS IS AVAILABLE

Please submit your documents in the following format only:

• each document should be submitted as a separate attachment and should be named as follows: candidate surname, candidate name – document type. For example: Jones, Jamie – CV; Jones, Jamie – cover letter.
• Please submit .pdf documents where possible for your CV, cover letter, transcripts and certificates. Do not submit photos of certificates.
• Do not combine documents into one pdf. You may zip separate documents into a zip file to send via email if required.
• When emailing your application, please use the email subject header: FMS PhD Application 2026

Applications not meeting these criteria may be rejected.

Informal enquiries may be made to the lead supervisor of the project you are interested in.

The deadline for all applications is 12 noon BST (UK time) on Wednesday 20th May 2026.