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Oxford University Hospitals NHS Foundation Trust
Clinical Genetics

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University staff profiles

Prof Andrew Wilkie

Specialty: Clinical Genetics (Honorary Consultant)

Training and education

  • Preclinical training at University of Cambridge, degree in Biochemistry
  • Clinical training at University of Oxford
  • Adult medical training at various London hospitals
  • Paediatric training at Bristol
  • Clinical Genetics training at Great Ormond Street and Cardiff
  • Research degree (DM) on alpha thalassaemia / mental retardation syndromes in Oxford

Andrew Wilkie, who is the Nuffield Professor of Pathology at the University of Oxford, specialises in craniofacial genetics and has been working in close collaboration with the Oxford Craniofacial Unit since 1993. He is part of the multidisciplinary team that holds weekly craniofacial clinics (jointly with Dr Deirdre Cilliers). He also helps to supervise the craniofacial genetic testing service based in Oxford. Many of the craniofacial genetic tests currently used in the NHS were originally developed in his laboratory.

Research

Prof Wilkie also directs a research laboratory based at the Weatherall Institute of Molecular Medicine in Oxford. His group undertakes an internationally leading programme investigating the genetics of craniofacial disorders. His research also investigates why some craniofacial gene changes (mutations) arise more commonly than expected. He is Co-Theme Leader of Genomic Medicine at the Oxford Biomedical Research Centre and a member of the science committee of Genomics England.

Professor Richard Gibbons BM BCh MA DPhil FRCP FMedSci

Specialty: Clinical Genetics

Training and education

  • BM BCh University of Oxford 1986
  • DPhil University of Oxford 1984
  • General medical training and clinical genetics training in Oxford
  • MRCP, London 1989
  • FRCP 2000

Professor Gibbons became an Honorary Consultant in Clinical Genetics in 1997 and was made Professor in Clinical Genetics in 2010.

Professor Gibbons holds general genetics clinics at the Churchill Hospital in Oxford.

Key achievements

Elected to the Academy of Medical Sciences in 2007.

Research

He runs a research group in the MRC Molecular Haematology Unit in the Weatherall Institute of Molecular Medicine, Oxford. His major research interest is in the role of a chromatin remodeling factor, ATRX. Mutations in the ATRX gene are associated with ATR-X syndrome, a rare inherited condition associated with severe intellectual disability.

Please see also: www.imm.ox.ac.uk/richard-gibbons

Prof Ian Tomlinson BM BCh MA PhD FRCPath FMedSci

Prof Ian Tomlinson

Specialty: Clinical Cytogenetics and Molecular Genetics

Sub-specialty: Cancer Genetics

Training and education

  • Medical training at Cambridge and Oxford
  • Academic training posts at Cancer Research UK, Institute of Cancer Research and Oxford
  • First consultant post in Oxford, 1998

Prof Tomlinson has worked for the Trust on two occasions, the latest being since 2008. He holds an academic post and is an Honorary Consultant. His research interests lie in cancer genetics, especially colorectal cancer, for which he leads the Genomics England domain.

Prof Tomlinson advises patients with a strong family history of bowel cancer, multiple bowel cancers or bowel cancer at an early age. They have a special interest in bowel polyps and their causes, and see patients of all ages with large numbers (>10) polyps, with or without cancer. The clinic works closely with the local cololorectal surgeons and gastroenteologists.

Key achievements

  • Discovered several cancer predisposition genes, many tested in clinical practice
  • Fellow of the Academy of Medical Sciences
  • EMBO member
  • UEGW prize, 2014
  • Pathological Society Goudie Medal, 2015

Professor Joanna Poulton BM BCh DM FRCPCH FRCP

Specialty: Mitochondrial Genetics

Prof Poulton is primarily a clinical scientist, but is the Oxford clinical lead for the NHS Highly Specialised Services for Rare Mitochondrial Disorders of Adults and Children. In 2002 she was appointed Professor of Mitochondrial Genetics in the Faculty of Medicine, University of Oxford.

Key achievements

  • Advances in Mitochondrial Genetics
  • As chair/co-chair of European Neuromuscular Centre (ENMC) workshops in 2000 and 2010 constructed the current European consensus view on prenatal genetic management of mtDNA disease
  • Web of Science H Index 41.

Research

  • First to describe pathological mitochondrial DNA (mtDNA) duplications and pioneered the application of two dimensional DNA electrophoresis to this field
  • First study of the mitochondrial bottleneck in oocytes from normal controls and among the first estimates of bottleneck size in oocytes from patients with mtDNA disease. This work 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 in defects of mtDNA maintenance, with a view to developing a new line of treatments for mitochondrial disease.

Dr Cyril Chapman (Emeritus)

Special interests: IT