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Oxford Centre for Genomic Medicine

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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 Professor Paul Wordsworth (Consultant Rheumatologist), 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

Contact us

  • Tel: 01865 234674 (Inherited Cardiac Conditions Clinic Secretary)
  • Email:

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 Colin Forfar), Rheumatology (Professor Paul Wordsworth) and Genetics (Dr Edward Blair). The consultant team is supported by Clinical Fellows (Dr Alex Pitcher) and a dedicated genetic counsellor (Subhashini Balasingham).


Professor Nemeth runs a join clinic with the Neurologists at the John Radcliffe Hospital. The focus is on diagnostics, and there is particular expertise in ataxias in adults and children, including Friedreich ataxia, SCAs and many other neurogenetic disorders. Management issues are also addressed.

Prenatal Genetics


von-Hippel Lindau (VHL)

Dr Halliday and a member of Prof Downes' team from Ophthalmology 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.

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.

Neurofibromatosis Type 1 (NF1)

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.

Huntington Disease and Neurogenetics

Professor Nemeth sees patients with diseases affecting the nervous system in adults and children.

Examples in adults include:

  • Huntington disease
  • ataxias
  • dystonias
  • spastic paraparesis
  • dementias (Fronto-temporal, Alzheimer and others)
  • motor neuron disease.

Examples in children include:

  • ataxias
  • Joubert syndrome
  • intellectual disability
  • dystonias
  • those diagnosed with 'cerebral palsy'.

The focus is on diagnostics and there is a strong emphasis on research. There are links to management clinics at the John Radcliffe Hospital.



Gynaecological Cancers


Dr Stewart and Dr McPherson see patients together to combine dermatology and genetic expertise in diagnosing, genetic testing, counselling and treating genetic skin conditions.


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


Dr Stewart and Dr Patel see patients together to combine immunology and genetic expertise in diagnosing, genetic testing, counselling and treating genetic immune conditions.


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.

Skin Cancer

Bowel Cancer

Dr Halliday, Prof Tomlinson and Peter Risby lead 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 Genetic Clinic is held once a month at the John Radcliffe Hospital in Oxford. Adults and children with possible or confirmed mitochondrial diseases are seen for genetic testing and management.

The multidisciplinary team comprises Prof Poulton and Jo Lowndes, with colleagues from Biochemistry, Physiotherapy and other departments.