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Oxford Centre for Genomic Medicine

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Consultant profiles

To contact individual members of our team, please use the department's telephone number or email address on our 'Contact us' page:

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Dr Deborah Shears MBBS MA PhD FRCP

Specialty: Clinical Genetics

Sub-specialties: Dysmorphology, Endocrine Genetics including Disorders of Sex Development, Skeletal Dysplasias

Training and education

  • BA (Hons) First Class, Physiological Science, Hertford College, University of Oxford, 1987
  • MBBS (Honours), St Bartholomew's Hospital Medical College, London 1990
  • MRCP 1993
  • PhD, University College, London, 2002
  • FRCP 2011
  • Research into the skeletal dysplasia Leri-Weill dyschondrosteosis and the SHOX gene leading to PhD was undertaken at the Institute of Child Health, London and Great Ormond Street Hospital, London
  • Specialist Registrar training in Clinical Genetics was undertaken at Great Ormond Street Hospital, London and completed in Oxford

Dr Shears was appointed as Consultant in Clinical Genetics in 2006 and Lead Clinician in 2014.

Dr Shears covers the Oxford, Reading and Milton Keynes area for general genetics clinics including adults and children. She is experienced in syndrome diagnosis, providing advice regarding genetic investigations and the interpretation of genetic test results. She has a special interest in Endocrine Genetics including sex chromosome alterations. She is the Clinical Geneticist for two specialist multidisciplinary team clinics: the Skeletal Dysplasia Clinic and the Disorders of Sex Development Clinic.

Research

  • Dr Shears has published widely in the area of rare genetic diseases
  • Principal Investigator for Childhood Overgrowth Study since 2011

Key achievements

  • Member of the Oxford Genomic Medicine Multidisciplinary Team
  • Member of the Musculoskeletal Genomics England Clinical Interpretation Partnership (GeCIP), as part of the 100,000 Genomes Project
  • Member of the Endocrine Clinical Reference Group (2013-2016)

Dr Edward Blair

Dr Edward Blair is a consultant Clinical Geneticist with specialist interests in Inherited Cardiac Conditions and Marfan syndrome.

Dr Blair is active in delivering the 100,000 Genomes project for the NHS

Dr Deirdre Cilliers MBChB MSc FRCP FRCPCH, MD

Dr Deirdre Cilliers

Specialty: Clinical Genetics

Training and education

MSc in Molecular Genetics (with distinction), Imperial College, 2002
MD (Research) – Institute of Cancer Genetics, Sutton, University of London, 2009

Experience

Dr Cilliers became a Consultant in Clinical Genetics in 2009, having completed her specialist registrar training in the genetics departments of Manchester and Cambridge. She is the prenatal genetics lead for the department and her other interests include craniofacial genetics and cancer genetics. She is the training programme director for clinical genetics for the Health Education Thames Valley.

Research

Dr Cilliers has completed a MD degree which investigated new genetic causes of overgrowth syndromes. She is actively involved in research studies and has published several papers in her areas of interest.

Dr Dorothy Halliday Bsc MBBS PhD FRCP

Speciality: Cancer Genetics

Training and education

  • Clinical genetic training in Oxford
  • PhD, Welcome Trust centre of Human Genetics Oxford. Awarded from University of London 2001
  • MRCP Royal College of Physicians London 1996
  • MBBS, Charing Cross and Westminster Medical school, University of London 1991
  • Bsc in Biochemistry, University of London 1988

Dr Halliday was appointed Consultant in Clinical Genetics in 2009 and is the Clinical Lead for the department. She provides cancer genetic clinics in Oxford. She is the clinical lead for the regional VHL (von-Hippel Lindau) clinic and joint lead of the nationally commissioned NF2 service for the South West of England.

Dr Lara Hawkes

Dr Lara Hawkes has been a consultant in Cancer Genetics since 2019, having completed training in London, Oxford, and a MSc in Clinical Genomics.

Professor Usha Kini MBBS MD MRCP FRCP

Dr Usha  Kini

Specialty: Clinical Genetics

Training and education

  • Undergraduate medical degree, Bangalore, India
  • General Paediatric training in Norwich, Guys and St Thomas' Hospital and Booth Hall Children's Hospital
  • Clinical Genetics Training in Manchester
  • MD from University of Manchester

Professor Kini became a consultant in Clinical Genetics in 2005, having completed her specialist registrar training in the genetics department in Manchester.

Professor Kini's clinical expertise is in the diagnosis of neurodevelopmental syndromes. She also specialises in genetics of structural brain abnormalities, clefting syndromes and Neurofibromatosis type 1 (NF1) - she runs a dedicated clinic for each of these. She also covers Wycombe area general genetics clinics.

Research

Professor Kini is Associate Professor of Genomic Medicine at the Radcliffe Department of Medicine. Her translational research focuses on using enhanced diagnostics in understanding the genetic basis of neurodevelopmental disorders (including epilepsy) and congenital anomalies (including brain abnormalities and orofacial clefting) with a long-term aim of working towards personalised medicine.

Prof Usha Kini - Radcliffe Department of Medicine

Professor Andrea H Németh BSc MBBS DPhil (Oxon) FRCP

Specialty: Clinical Genetics

Professor Nemeth is a Consultant in Clinical Genetics and Associate Professor at the University of Oxford. She has spent over 25 years specialising in inherited conditions of the nervous system including Huntington Disease, ataxias, intellectual disability and many other conditions and has published over 50 research papers.

She runs a research laboratory in the Nuffield Department of Clinical Neuroscience which focuses on using genomics for diagnostics and research as well as developing cellular models of nervous system development and disease.

Prof Andrea Németh - Nuffield Department of Clinical Neurosciences

She runs clinics twice monthly at the Churchill Hospital and a joint clinic once a month at the John Radcliffe Hospital.

Dr Joyce Solomons

Specialty: Cancer Genetics

Training and education

  • MBBS, Bangalore University, India
  • MS, University of Massachusetts, USA
  • MRCP, London

Dr Solomons became a consultant in cancer genetics in 2012 having completed her specialist training in Oxford. Her clinical work involves diagnosis and management of patients and families with familial cancer predisposition. She covers Buckinghamshire and Banbury region in North Oxfordshire.

In her role as the needs assessment lead for the National Institute of Clinical Excellence (NICE) for familial breast cancer, Dr Solomons evaluated the existing statistics and current clinical practice in England and Wales. Her official report was published by NICE in 2013.

Research

As a specialist registrar her research involved determining biomarkers for tumour sensitivity to PARP inhibitors with Prof Thomas Helleday's group.

Dr Helen Stewart

Specialty: Clinical Genetics

Training and education

  • Undergraduate medical degree, Cardiff
  • General paediatric training in Cardiff, Birmingham, Leicester
  • Genetic training and MD in Manchester

Dr Stewart has been a consultant in clinical genetics in Oxford since 2001. She provides clinics in Oxford, Milton Keynes, Reading, Banbury and Aylesbury. The majority of her work is in syndrome diagnosis, and giving advice about the significance of genetic test results.

Her specialist clinics are Genetic Dermatology and Genetic Ophthalmology, and she liaises with Immunology and Haemophilia services to provide genetic advice. She also provides advice for HFEA and UKGTN.

Research

Dr Stewart undertook research as a specialist registrar in Manchester, studying the genetics of corneal dystrophies; she is now involved with many research projects around the world.

Dr Lisa Walker

NHS Consultant (PT)
Special interests: cancer genetics; breast cancer; skin cancer

Dr Andrew Douglas DPhil FRCP

Specialty: Neurogenetics

Training

Wessex Clinical Genetics Service, Southampton

Clinics

  • Huntington disease and neurogenetics - Nuffield Orthopaedic Centre, Oxford
  • Paediatric patients - Great Western Hospital, Swindon
  • Adults and paediatric patients - Nuffield Orthopaedic Centre, Oxford

Research

Dr Douglas is an Honorary Senior Clinical Lecturer at the University of Southampton, working with Professor Diana Baralle on the use of RNA splicing analysis and transcriptomics in the diagnosis of genetic disease. Additional research interests include antisense oligonucleotide therapies, neuromuscular genetics and the genetics of neurodegenerative disorders.

Professor Andrew Wilkie

Specialty: Clinical Genetics (Honorary Consultant)

  • Training and education
  • Preclinical training at Cambridge University, degree in Biochemistry
  • Clinical training at Oxford University
  • 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, 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 (WIMM) 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.

Last reviewed:14 February 2022