Metabolics
Saint Mary's Hospital
Metabolics at Saint Mary's Hospital
The Metabolics programme is based within the Willink Unit and Manchester Centre for Genomic Medicine at Saint Mary’s Hospital, part of Manchester University NHS Foundation Trust. The service provides specialist clinical care for children and families affected by inherited metabolic disorders, with close links to genomic medicine, biochemical genetics, multidisciplinary clinical teams and research activity across Manchester.
The service has recognised interests in lysosomal storage diseases, fatty acid oxidation disorders, mitochondrial respiratory chain disorders, remethylation disorders, molybdenum cofactor deficiency and genomic approaches to rare disease diagnosis.
The programme is suitable for doctors and aspiring clinicians seeking practical insight into UK specialist metabolic medicine, rare disease pathways, multidisciplinary care, clinical governance, research-active services and patient-centred inherited disease management.
Fellowships and observerships at Manchester Specialist Health Academy provide international clinicians with structured opportunities to experience high quality healthcare training within a leading NHS environment. Both pathways offer consultant oversight, a clear induction, and access to modern clinical settings that support a strong understanding of advanced patient care. Participants are welcomed into a professional community that encourages learning, collaboration, and engagement with the culture of Manchester.
While fellows take part in more in depth clinical development, gaining exposure to subspecialties, procedures and research, observers focus on shadowing and understanding multidisciplinary practice within NHS services. Both groups benefit from involvement in clinics, team discussions, and wider learning activities such as simulation sessions, CPD opportunities, and quality improvement insight.
Academic contributions and awards
The Metabolics team is associated with an active academic and clinical research profile in inherited metabolic disease, rare disease treatment, diagnostics and guideline development.
Olivieri G, Bordugo A, Burnyte B, et al. First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders. Journal of Inherited Metabolic Disease. 2026.
Ghosh A, Baghdasaryan A, Pinto PL, Rudebeck M. Efficacy and safety of pegzilarginase in patients below 2 years of age with arginase 1 deficiency: a phase 3, open-label, multi-centre study. EClinicalMedicine. 2026.
Urizar E, McCarron EP, Gadepalli C, et al. Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders. Genes. 2025.
Schwahn BC, Barvíková K, Wu HT, et al. Pharmacodynamic profiling in three patients with molybdenum cofactor deficiency type A reveals prolonged biological effects after withdrawal of cyclic pyranopterin monophosphate. Molecular Genetics and Metabolism. 2024.
Schwahn BC, van Spronsen F, Misko A, et al. Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies. Journal of Inherited Metabolic Disease. 2024.
Szot JO, Cuny H, Martin EM, et al. A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder. Journal of Clinical Investigation. 2024.
Rare and complex cases
• Inherited metabolic disorders affecting children and families, including conditions requiring integrated clinical, biochemical, genetic and multidisciplinary assessment.
• Lysosomal storage diseases, including exposure to specialist monitoring, treatment pathways, clinical trial-informed care and long-term follow-up.
• Disorders of fatty acid oxidation and mitochondrial respiratory chain function, including clinically complex presentations requiring specialist diagnostic interpretation.
• Remethylation disorders and sulphur or methyl group metabolism disorders, including diagnostic and therapeutic considerations in rare disease practice.
• Cases requiring coordination across genomic medicine, biochemical genetics, paediatrics, specialist nursing, dietetics, pharmacy, laboratory teams and regional or national networks.
• Opportunities to understand how rare disease management balances acute presentation, long-term surveillance, family counselling, treatment monitoring and transition planning.
Why Manchester?
Manchester is a city of innovation and progress, renowned as the world’s first industrial city and still leading in science, healthcare, and technology. With excellent transport links and a vibrant, multicultural atmosphere, it offers an inclusive environment for learning and professional growth.
Beyond your placement, Manchester offers something for everyone - from watching the iconic Manchester derby to exploring world-class museums and galleries. With vibrant music, sport, and culture, the city truly has it all. Combining heritage and modernity, it creates a unique setting for personal enrichment and memorable experiences whilst you develop professionally.
Our signature programmes
Observership
Metabolics
Objectives
By the end of the placement, the visiting professional should be able to:
- Understand the structure and function of a UK specialist inherited metabolic medicine service within a large NHS foundation trust.
- Observe clinical assessment, diagnostic reasoning and follow-up planning for patients with inherited metabolic disorders.
- Develop awareness of multidisciplinary working across medical, nursing, dietetic, pharmacy, laboratory, genomic and allied professional teams.
- Recognise how genomic and biochemical investigations support diagnosis, treatment planning and family counselling in metabolic disease.
- Gain insight into patient safety, clinical governance, documentation, consent, safeguarding and communication standards in UK specialist practice.
- Observe how research, clinical trials and guideline-based practice contribute to rare disease care.
Eligibility
- The visiting professional must have sufficient English language skills to engage meaningfully in the observership.
Fellowship
Metabolics
Objectives
By the end of the placement, the visiting professional should be able to:
- Develop supervised clinical capability in assessment, investigation planning, monitoring and follow-up of inherited metabolic disorders.
- Contribute to case-based discussions, multidisciplinary meetings, service improvement activities and reflective learning under consultant supervision.
- Strengthen understanding of treatment pathways for specialist metabolic conditions, including enzyme replacement or novel therapies where clinically relevant.
- Apply evidence, guidelines and research findings to supervised clinical reasoning and patient-centred care planning.
- Build confidence in UK standards for clinical governance, communication, documentation, risk management and multidisciplinary coordination.
- Identify opportunities for academic development, audit, quality improvement or research-aligned activity within an NHS specialist service.
Eligibility
- Postgraduate Qualification: Applicants must hold an overseas-recognised postgraduate medical qualification (MD, MS, Masters) in ophthalmology or a relevant specialty.
- Experience: Minimum of 3 years’ recent experience in ophthalmology or a related specialty within the last 5 years, including at least 12 months of continuous practice before applying.
- Training Level: Equivalent to ST5 or above, or post-CCT clinicians seeking subspecialty exposure.
- Language Proficiency: IELTS Academic with 7.0 in each band and overall 7.5, or OET Medicine with Grade B in all domains, with certificate validity within 24 months.
- Registration: GMC registration is required for fellowship activity. Sponsorship support may be available through approved routes where appropriate.
- Applicants must not have failed PLAB exams previously.
- Visa sponsorship is only available through approved routes; self-funded visas outside agreed schemes are excluded.