Mechanistic dissection of metabolic and mitochondrial stress pathways in a titin-related myopathy

About the Project

Are you interested in uncovering why muscles weaken and fail in rare genetic diseases—and how this knowledge could help develop future therapies?

This PhD project focuses on hereditary myopathy with early respiratory failure (HMERF), a rare inherited muscle disorder caused by mutations in the titin gene. Titin is the largest protein in the human body and plays a critical role in maintaining muscle structure and function. In HMERF, these mutations lead to progressive muscle weakness and life‑threatening respiratory complications, but the biological mechanisms driving muscle damage remain largely unknown.

In this project, you will generate cutting‑edge human muscle cell models carrying disease‑causing titin mutations and use them to investigate how these genetic defects disrupt cellular energy production and trigger metabolic and mitochondrial stress. You will also work with muscle cells derived directly from patients, providing a unique opportunity to study disease mechanisms in authentic human material and bridge the gap between laboratory research and clinical disease.

You will apply a range of advanced experimental approaches, including genome editing, human muscle cell culture, functional metabolic analysis, and molecular profiling. Through this work, you will help identify the key processes that cause muscle cells to fail and explore new avenues for therapeutic intervention.

You will be part of the internationally recognised John Walton Muscular Dystrophy Research Centre in Newcastle, working within a collaborative and multidisciplinary team of scientists and clinicians dedicated to understanding and treating neuromuscular diseases. This is an exciting opportunity to contribute to research with real potential to impact patients’ lives while developing expertise in state‑of‑the‑art biomedical research.

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.