Our team

Jo was the clinical lead of the service until 2019 and is now focusing on research. She trained in paediatrics at Birmingham Children's Hospital then the Dubowitz Neuromuscular Unit (London).

She developed a research interest in mitochondrial genetics as a Wellcome Senior Research Fellow in Clinical Science, then as Royal Society Research Fellow.

Key achievements

• Advances in Mitochondrial Genetics
• As chair / co-chair of European Neuromuscular Centre (ENMC) workshops in 2000, 2010 and 2019 she constructed the current European consensus view on prenatal genetic management of mtDNA disease and mitochondrial replacement therapy

Research

• First to describe pathological mitochondrial DNA (mtDNA) duplications
• Her studies of the mitochondrial bottleneck in oocytes laid the foundation for emerging technologies for reducing transmission of mtDNA diseases, pre-implantation genetic diagnosis and nuclear transfer
• First mammalian model of transmission of detrimental mtDNA mutants
• Current work focuses on mitochondrial DNA quality control view to developing a new line of treatments for mitochondrial disease

Victoria completed her medical degree at Glasgow University before commencing her postgraduate paediatric training in Newcastle and Oxford. She completed her PhD in Mitochondrial Diseases in Childhood at Newcastle University before becoming a Consultant Paediatrician in Mitochondrial Diseases and Honorary Senior Clinical Lecturer in Paediatrics in Oxford.

Victoria became the Clinical Lead for the NHS Highly Specialised Service for Rare Mitochondrial Disorders in Oxford in September 2019. Victoria has an interest in education and strives to increase awareness of mitochondrial disease amongst clinicians in order to identify and diagnose children earlier, allowing specialist management and genetic counselling to be instituted appropriately.

Victoria is the Principal Investigator for Oxford on the MRC Mitochondrial Diseases Patient Cohort Study (UK).

Her research interests also include the natural history of mitochondrial disorders, phenotype-genotype correlations and determining best clinical practice for these rare disorders.

Sue has devoted all her working life to caring for children and families. After completing a BTEC in Caring Services in Surrey she began a Teaching Degree in Worcester. She met her husband there and moved to Oxford in 1996 where she completed her B.Sc Degree.

Between studying and working, Sue was Respite Foster Carer for over 20 years, caring for local children with complex and life-limiting diseases in her own home.

In 2000, Sue joined the care team (and bereavement team) at Helen and Douglas House Hospice, Oxford and it was after a few years that she commenced her nursing course at Oxford Brookes University. She gained her Paediatric Nursing qualification in 2005 and after working at the John Radcliffe Hospital, Oxford became part of the Community Nursing Team and remained there for 10 years, practising in different settings including patients' homes and schools.

In 2011 Sue was appointed Clinical Nurse Specialist for a local special school.

After juggling family commitments she then returned to Helen and Douglas House Hospice, nursing patients with rare and complex diseases requiring symptom control, palliative care and end of life support.

She now looks forward to dedicating her time and energy within the specialism of mitochondrial disease.

Dr Stefen Brady joined the Oxford Rare Mitochondrial Disorders Service in 2019. He studied medicine at Trinity College Medical School in Dublin and trained as a neurology specialist in Yorkshire.

Stefen was awarded a Muscular Dystrophy UK clinical fellowship in 2010. He went on to a senior clinical research fellowship funded by Myositis UK in 2013. He trained in muscle diseases with Dr David Hilton-Jones at the John Radcliffe Hospital in Oxford and with Professors Mike Hanna and Janice Holton at MRC Centre for Neuromuscular Diseases and the Institute of Neurology in London.

Stefen was awarded a DPhil by the University of Oxford for his thesis, A Clinicopathological Study of Inclusion Body Myositis (IBM), in 2014. During his DPhil, Stefen spent time working with mitochondrial specialist Prof. Jo Poulton.

Stefen has worked as a Specialist Neuromuscular Consultant since 2016.

Dr Alison Skippen is a Clinical Fellow in the Oxford Rare Mitochondrial Disorders Service.

Prior to studying medicine in Southampton University, Alison undertook a BSc (York) and PhD (UCL) in Biochemistry. Upon finishing her medical degree she then undertook foundation training in the North Thames deanery.

In 2011, Alison commenced Paediatric Specialty training in the East of England. More recently, she has undertaken training posts in Paediatric Neurology in Addenbrooke's Hospital, Cambridge and Great Ormond Street Hospital for Children. She transferred to the Thames Valley Deanery in September 2022 to complete her Paediatric Neurology GRID Training in the John Radcliffe Hospital, Oxford.

Kate graduated with a BSc Hons in physiotherapy from Bristol 1993 and has worked in both Oxford and Stoke Mandeville Hospitals covering a broad range of specialties.

Kate is currently working at the Oxford University Hospitals as a Specialist Physiotherapist in Vestibular Rehabilitation / Balance Disorders and other long-term neurological conditions.

Kate's particular interest is in enabling patients to achieve their full potential whether through balance muscle strength or other activities. Choosing the most appropriate outcome measures to help monitor and maintain balance in neurological conditions and fatigue management. She is eager to evaluate Physiotherapy outcome measures used within mitochondrial disease.

Kate is involved in clinical research and has published an article on patient rehabilitation outcomes focusing on both short and long term follow-up.She has also produced a range of balance videos to assist patients with their exercise programmes.

She is a member of a vestibular physiotherapy special interest group and speaks at patient balance workshops and national conferences.

Francesca graduated from Cardiff University in 2015 and gained her Junior rotational Physiotherapy experience in Wales working in a wide variety of specialties with adults.

Francesca also completed a junior rotation within Paediatrics which was the motivator to choose this as her career path. She subsequently worked within Children's Community Services practising in education, outpatient, clinic and ward-based settings looking after children with orthopaedic, neurological, neuromuscular, developmental, respiratory and complex multifactorial diagnoses.

To further her acute clinical expertise Francesca moved to the Oxford Children's Hospital in 2019. She gained further clinical experience across all areas of specialty within the hospital and initiated service improvement projects, presented at European level, and continues to play an active role in providing acute on-call and out of hours respiratory care.

Francesca has gained a static position within the Paediatric Neuromuscular and Mitochondrial Services and is keen to progress further within this role.

Jo has worked as a Genetic Counsellor since 2004 and as part of the team in the Mitochondrial Service in Oxford since 2005.

Jo obtained a postgraduate degree (MSc) in Genetic Counselling from Manchester University in 2004. She specialises in working with patients and families with mitochondrial conditions and is also the Lead Genetic Counsellor for prenatal and reproductive genetics at the Oxford Genomic Medicine Centre.

Jo contributes to the training and education of Genetic Counsellors within the NHS, both locally and nationally.

Rebecca has been a Family Care Advisor at the John Radcliffe Hospital since July 2016, working mainly with the Paediatric Neuromuscular Service but also with the Mitochondrial Team.

She shares the Mitochondrial Family Care Advisor role with her colleague Heather Ryan, tending to concentrate on paediatric work.

She graduated as an Occupational Therapist from Northumbria University in 1992, and gained an MA in Play Therapy from the University of York in 2003.

She has worked mainly in Child and Adolescent Mental Health Services (CAMHS), though she has also worked in learning and physical disabilities and in community paediatrics.

Before her current role she spent 14 years as a Clinical Specialist Occupational Therapist in CAMHS in Swindon.

Claire qualified as a Speech and Language Therapist in 1994 from Manchester Metropolitan University.

Claire has always had an interest in working with Children with SEN; working initially in a special school in Manchester and then London.

In 2004 she moved to working with babies and children under four years of age attending the Child Development Centre based at St Mary's Hospital. During her time there she was able to develop her skills on the children's wards in Acute Paediatric Dysphagia, which led to a job at the Royal London Hospital for almost nine years in their tertiary level Children's Hospital.

Claire has worked across many specialties including:

• Neurology
• Respiratory
• Gastroenterology
• ENT
• Neurosurgery
• Oncology
• Cardiology
• Paediatric Critical Care

to become a Highly Specialist Speech and Language Therapist in Dysphagia and Acquired Communication Difficulties.

Claire is now the Acute Paediatric Clinical SLT Lead at Oxford Children's Hospital where she has developed close links with the Mitochondrial Service. She was delighted to be asked to join the team in February 2019.

Claire hopes her years of expertise will enable her to support both children and adults with Mitochondrial Disorders who attend the Oxford Centre.

Heather commenced nurse training in Oxford in 1988 and on qualifying completed two years in General Medicine at the John Radcliffe Hospital.

Heather then spent three years working with patients with spinal injury at the Duke of Cornwall Spinal Treatment Centre in Salisbury, before moving back to Oxford to join the team at Ritchie Russell House providing a Continuing Disability Management Service for people with neurological conditions including stroke, multiple sclerosis, motor neurone disease and spinal injury.

After five years, Heather spent a year in research followed by eight years training carers in the community.

Heather has been working as a Neuromuscular Care Advisor with the team at the John Radcliffe Hospital, and 18 months ago joined the Mitochondrial Team to provide the same support.

Carl Fratter is a Consultant Clinical Scientist and leads the Mitochondrial Diagnostics Team at Oxford Genetics Laboratories.

He has specialised in the genetic diagnosis of mitochondrial disorders for over 20 years. Carl and the rest of the team collaborate closely with clinical and research colleagues in order to translate new research findings into diagnostic practice, and to provide an optimal service which is linked to the clinical service.

He has particular interest and expertise in disorders of mitochondrial DNA maintenance.

Carl has been a Registered Clinical Scientist since 2004 and was awarded Fellowship of the Royal College of Pathologists in 2008. Before that he obtained Masters degrees at the University of Oxford and the University of Birmingham.

Kate Sergeant is a senior Clinical Scientist in the mitochondrial genetics team at the Oxford Genetics Laboratories.

After graduating with a degree in Genetics from Newcastle University, she studied for a PhD at the Institute of Human Genetics in Newcastle. Following this, Kate trained as a Clinical Scientist in molecular genetics with the Northern Genetics Service and successfully passed Part 1 of the FRCPath examination in molecular genetics in 2012.

Kate moved to Oxford in 2013 and was appointed to a senior position in the mitochondrial team in January 2016.

She is enjoying using her experience to help develop the diagnostic mitochondrial service provided by the Oxford Medical Genetics Laboratories, including taking on the pyruvate dehydrogenase deficiency service previously offered by Dr Garry Brown.

Conrad is a Clinical Scientist at the Oxford Medical Genetics Laboratories with interests in mitochondrial genetics and in whole exome sequencing for rare disorders.

Conrad has been a key member of the Mitochondrial Genetics team since completing his Clinical Scientist training in 2006.

Before moving to Oxford he worked for 15 years at the University of Birmingham, obtaining a PhD while investigating molecular changes after brain and spinal cord injury.

Phil Hodsdon has a degree in Biological Science and joined the Oxford Genetics Laboratories in March 1998, working in the Molecular Genetics Laboratory.

Phil started out as a Medical Technical Officer (MTO) working on a variety of disease areas including Cystic Fibrosis, various inherited cancers and neurological diseases caused by triplet repeat expansions.

Later he became a Senior Genetic Technologist and was involved in carrying out the laboratory work on patient samples referred for mitochondrial disease testing.

Phil gained a Genetic Scientist role in Jan 2020, working alongside the other scientists already part of the Mitochondrial Disease Team. He hopes his extensive background knowledge of the tests will help as his role develops over time.