The NHS Highly Specialised Service for Rare Mitochondrial Disorders is a national specialist healthcare service in England that provides diagnosis, clinical management, genetic counselling, and multidisciplinary care for patients with rare mitochondrial diseases. The service was established in 2007 as part of the National Health Service's Highly Specialised Services programme and operates through three centres of excellence located in London, Newcastle, and Oxford.
Background
Mitochondrial disorders are a group of rare inherited diseases caused by dysfunction of mitochondria, the cellular structures responsible for producing energy. Because mitochondrial diseases can affect almost any organ system and present at any age, diagnosis is often complex and requires highly specialised clinical and laboratory expertise. The NHS established the national service to improve access to accurate diagnosis, coordinated care, and specialist support for affected individuals and their families.
Organisation
The service is delivered through three designated centres:
University College London Hospitals NHS Foundation Trust (London)
The Newcastle upon Tyne Hospitals NHS Foundation Trust (Newcastle)
Oxford University Hospitals NHS Foundation Trust (Oxford)
These centres provide a multidisciplinary service for patients including specialist clinical assessment, diagnostic laboratory services (including genetic testing), specialist nursing support, physiotherapy advice and access to research studies and clinical trials.
Services
The NHS Rare Mitochondrial Disorders Service provides:
Multidisciplinary clinical assessment for adults and children
Genetic counselling and family support
Advanced biochemical, histochemical, and molecular genetic diagnostics
Clinical management advice for healthcare professionals
Specialist nursing and allied health professional support
Access to research programmes and clinical trials
National patient information and education initiatives
Education of health professionals to increase awareness of mitochondrial disorders to improve patient outcomes in the community.
Research
The service has close links with major academic research programmes in mitochondrial medicine. The London and Newcastle centres are internationally recognised for research into the genetic causes, diagnosis, natural history, and treatment of mitochondrial disease. Patients may be offered opportunities to participate in observational studies and clinical trials investigating novel therapies.