Rare Mitochondrial Disorders Service
Services available
Clinical
We see both child and adult patients for diagnosis and management of mitochondrial disease, with genetic management being a major feature of the service.
We have a multidisciplinary service, including regular cardiology review. We issue patients with emergency information sheets to support out-of-hours medical consultations.
Clinics
There are two main clinics at the Oxford Rare Mitochondrial Disorders Service.
Mitochondrial Diseases Diagnosis and Management Outpatient Clinic
This is a multidisciplinary clinic, including:
- Dr Victoria Nesbitt
Consultant Paediatrician and Clinical Lead
- Dr Stefen Brady
Consultant Neurologist
- Jo Lowndes
Principal Genetic Counsellor
- Kate Browne
Neuromuscular and Vestibular Physiotherapy
- Heather Ryan and Rebecca Moore
Adult and Paediatric Family Care Advisors
- Claire Blair
Highly Specialised Speech and Language Therapist
If appropriate, patients can be seen on the same day in the Cardiomyopathy and Inherited Cardiac Conditions Clinic.
As part of this clinic our Genetic Counsellor also sees mitochondrial patients and couples for reproductive counselling and decision-making.
Reproductive options available to certain couples, through our clinic, can include:
- prenatal diagnosis, including non-invasive prenatal diagnosis (NIPD)
- Pre-implantation Genetic Diagnosis (PGD)
- gamete donation.
Mitochondrial Diseases Genetic Counselling and Follow-up Telephone Clinics
Telephone clinics are also possible in some cases.
- Dr Victoria Nesbitt offers follow-up telephone consultations to patients unable to travel to Oxford.
- Jo Lowndes offers genetic counselling and pre-clinic consultations by telephone on an individual basis.
- Professor Jo Poulton continues to see patients in the Dubowitz Neuromuscular Unit at Great Ormond Street Hospital.
Diagnostics
Laboratory services at the Oxford centre comprise specialist mitochondrial genetics (based within the Oxford Genetics Laboratories of Oxford University Hospitals NHS Foundation Trust) and some specialist biochemical, cellular and histological analyses.
A neuroradiology review service is also provided.
Referral pathways
Clinical referrals
We accept referrals via hospital specialists, including:
- Neurologists
- Geneticists
- Paediatricians
- Ophthalmologists
- Clinical Biochemists
In the case of families where there is already a proven mitochondrial disease, referrals will be accepted from a GP.
Diagnostic referrals
Diagnostic samples will be accepted in our laboratories with the completion of the appropriate referral documentation.
Further information on the range of laboratory services is available here:
Laboratory and diagnostic services
Our Diagnostic Referral Proforma is available here:
Request forms - Oxford Genetics Laboratories
Contact details
Non-urgent queries
Patients, family members and clinicians
Email: mitohelp@ouh.nhs.uk
We aim to reply to all queries within one week.
Clinical correspondence
NHS Highly Specialised Services for Rare Mitochondrial Disorders - Oxford Centre
Nuffield Department of Women's and Reproductive Health
Level 3, Women's Centre
John Radcliffe Hospital
Oxford OX3 9DU
Tel: 01865 225899
Diagnostic samples
Oxford Medical Genetics Laboratories
Oxford University Hospitals NHS Foundation Trust
Churchill Hospital
Oxford OX3 7LE
Tel: 01865 226001
Email: mito.oxfordgenetics@ouh.nhs.uk
Further information for professionals
Mitochondrial Disease Care Guidelines
The Mitochondrial Disease Care Guidelines below aim to provide expert guidance to health professionals on the management of specific aspects of Mitochondrial Disease.
These guidelines have been developed by the NHS Rare Mitochondrial Disorders Service in Newcastle using consensus expert opinion from specialists working across the UK, including Dr Victoria Nesbitt, Consultant Paediatrician, at the Rare Mitochondrial Disorders Service in Oxford.
Last reviewed:08 April 2024