Our clinics

Specialist genetic clinics

Skeletal Dysplasias

This is a multidisciplinary specialist paediatric clinic for investigation and diagnosis of children with possible skeletal dysplasias.

Dr Shears is the Clinical Geneticist on the team providing genetic counselling and advice with Dr Kathy Bailey (Consultant Paediatric Rheumatologist) and Mr Andrew Wainwright (Consultant Paediatric Orthopaedic surgeon).

Disorders of Sexual Development

This is a multidisciplinary specialist paediatric clinic for investigation, diagnosis and management of children with disorders of sex development.

Dr Shears is the Clinical Geneticist on the team providing genetic counselling and advice with Dr Fiona Ryan (Paediatric Endocrinologist), Dr Karen Steinhardt (Paediatric Psychologist) and Miss Rosa Romero (Paediatric Urologist).

Cardiac Genetics

Overview of Clinical Service - Division of Cardiovascular Medicine

Contact us

Inherited Cardiac Conditions Clinic Secretary: 01865 234674

Email: ORH-TR.ICC@nhs.net

Marfan Syndrome

We offer a one stop multidisciplinary diagnostic and follow-up clinic for patients with Marfan Syndrome, suspected Marfan Syndrome or related aortopathy syndromes such as Loeys-Dietz Syndrome.

The clinic is staffed by consultants in Cardiology (Dr Alex Pitcher), Rheumatology and Genetics (Dr Edward Blair). The consultant team is supported by a dedicated genetic counsellor (Laura Medicoff).

Marfan syndrome - NHS website

Prenatal Genetics

The Prenatal Clinical Genetics team works closely with Oxford Fetal Medicine Unit and other antenatal services across the region. We provide information and support in pregnancy when there is a family history of a genetic condition and/or scan findings that might be linked to a genetic condition.

Craniofacial

Oxford Craniofacial Unit

von-Hippel Lindau (VHL)

Von Hippel-Lindau Syndrome - cancer.net

Dr Halliday, with colleagues from ophthalmology and endocrinology see patients with VHL, or who may have VHL, for an annual screening appointment and advice.

Neurofibromatosis Type 2 (NF2)

Dr Halliday co-leads this service with Dr Parry from Neurology. Patients who have NF2 or who may have this condition are seen as part of a team which includes specialist nurses, ENT and neurosurgeons to provide specialised, multidisciplinary care to patients.

NF2 - Oxford University Hospitals

Brain Malformations

Dr Kini has an expertise in the genetics of structural brain abnormalities and neurodevelopmental disorders. She runs this specialist clinic which offers genetic diagnosis, advice on prenatal testing and opportunity to participate in research.

Cleft Lip and Palate

This is a specialist genetics clinic run in conjunction with the Spires Cleft Clinic. Dr Kini is the clinical geneticist on the Spires Cleft Team and provides diagnosis, genetic testing and counselling of families with clefts.

The Spires Cleft Centre

Neurofibromatosis Type 1 (NF1)

Neurofibromatosis type 1 - NHS website

This is a specialist clinic that is involved in diagnosing NF1, arranging appropriate screening and monitoring of these patients, and offering genetic counselling to these families. This clinic is run by Dr Kini.

HD Neurogenetics and Ataxia

Dr Douglas and Professor Andrea Nemeth provide a range of clinics at OxGEM and the John Radcliffe Hospital, which include both research and management. Principal Genetic Counsellors Ruth Roberton and Jess Bailey and team provide dedicated counselling and support for individuals having a predictive genetic test.

Eye Genetics Clinic

The Eye Genetics Clinic at Oxford Eye Hospital specialises in diagnosing and managing inherited eye conditions, offering comprehensive genetic testing and genetic counselling.

The service integrates advanced genetic research with support from the Eye Research Group Oxford (ERGO) to provide personalised care for patients and families affected by genetic eye disorders.

Dermatology

Dr McPherson sees patients for diagnosing, genetic testing, counselling and treating genetic skin conditions.

Haemophilia

Dr Curry provides advice for affected people and their families, at diagnosis and to inform genetic testing and family planning choices.

Immunology

Dr Patel sees patients for diagnosing, genetic testing, counselling and treating genetic immune conditions.

Ophthalmology

Dr Stewart sees patients with, and at risk of, genetic eye diseases, for diagnosis, genetic testing and counselling. There is a separate service for adults with retinal disorders.

Adult Oncogenetics

Dr Lisa Walker leads a clinic based at at the Nuffield Orthopaedic Centre in Oxford for adults over 18 with rare hereditary cancer conditions including Li-Fraumeni Syndrome (LFS), PTEN, HLRCC and Birt Hogg Dube, as well as rare hereditary skin cancer predisposing conditions. There is a focus on both diagnostic genetic testing and healthcare management, including cancer screening and research opportunities.

Paediatric Oncogenetics

Dr Lisa Walker and Dr Shaun Wilson provide a clinic based at the Children's Hospital in Oxford for children / young adults who may have, or may be at risk for, a rare hereditary cancer condition in childhood. There is a focus on both genetic testing and healthcare management in a supportive, child and family-focused setting.

Bowel Cancer

Dr Solomons leads the team providing genetic advice for patients with bowel cancer either in themselves or in their family. The team reviews if genetic tests would be helpful in a family and advises individuals on ways to reduce the chance of cancer developing, or if additional cancer screening would be recommended.

Mitochondrial Genetics

The Mitochondrial Genetics Clinic is held twice a month at the Genetics Clinic in the Nuffield Orthopaedic Centre. Adults and children with possible or confirmed mitochondrial diseases are seen for genetic testing and management.

The multidisciplinary team comprises Dr Victoria Nesbitt and Jo Lowndes, with colleagues from Neurology, Biochemistry, Physiotherapy and other departments.

Hereditary Cancer

Consultant Clinical Geneticists Dr Dorothy Halliday, Dr Lara Hawkes, Dr Joyce Solomons, Dr Lisa Walker alongside Barbara Stayner, Consultant Genetic Counsellor, provide and lead a wide range of clinics for individuals with a personal and family history of cancer.

Our aim is to provide an informative and supportive appointment, including personalised risk assessment and healthcare plan which may include genetic testing.