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Oxford University Hospitals NHS Foundation Trust
Clinical Genetics

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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:

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 Jenny Carmichael BSc MBChB MRCP (Lond) PhD

Special interest: Neurogenetics

Training and education

  • BSc (class I), University of Leicester, 1992
  • MBChB, University of Leicester, 1994
  • MRCP, Royal College of Physicians, London, 1997
  • PhD, University of Cambridge, 2002

Dr Carmichael trained in Clinical Genetics in the Department of Genetics in Cambridge, and joined the Oxford Department of Clinical Genetics in 2014. She is based in Northampton General Hospital.

She runs clinics in Northampton General Hospital and Nene Park Outpatient Clinic, to ensure equity of access to clinical genetics services regionally.

She runs general genetics clinics with the purpose of diagnosing inherited genetic syndromes in children with congenital malformations, learning difficulties and developmental delay; providing genetic advice to families with inherited genetic conditions, organising and interpreting genetic test results and coordinating the medical care for families with complex inherited conditions.

Contact details

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 department lead for Cancer Genetics. She provides cancer genetic clinics in Northamptonshire, Wiltshire and Oxfordshire. She is the clinical lead for the regional VHL (von-Hippel Lindau) clinic. She is joint lead of the Nationally Commissioned Neurofibromatosis type 2 service for the South-West of England.

Dr Fiona Blanco Kelly (Locum)

Dr 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

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

Dr Kini covers the Swindon and Wycombe area general genetics clinic. The majority of her work is in syndrome diagnosis, and giving advice about significance of genetic test results. She has a specialist interest in orofacial clefts and congenital brain abnormalities. She also runs the specialist Neurofibromatosis type 1 clinic.

Research

Dr Kini's main research project is the 'Genetics of Structural Brain Abnormalities and Learning Disabilities', of which she is the Chief Investigator. Through the use of new genetic technologies such as comparative genomic hybridization, SNP arrays and exome sequencing, the project has identified and reported several novel genes causing brain malformations. She also has in interest in the GPI Anchor pathway genes causing microcephaly and intellectual disability.

More information about the project is available from www.brainabnormalities.org.uk

Dr Kini also has a long-standing research interest in the teratogenic effects of anti-epileptic drugs.

Professor Andrea H Nemeth 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.

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

Dr Susan Price MBChB FRCP Dip Clin Genet MA

Special interests: Dysmorphic Syndrome Diagnosis; Medical Ethics

Training and education

  • MBChB. Faculty of Medicine, University of Manchester 1982.
  • MRCP Part 1, February 1984.
  • MRCP Part 2, Paediatrics, November 1985.
  • Open University Course S298 in Genetics, Feb - Oct 1991 gained with distinction.
  • Diploma in Clinical Genetics awarded by the Institute of Child Health, London - July 1992.
  • FRCP
  • MA in Health Care Law and Ethics from Swansea University July 2006.

Dr Price trained initially in paediatrics, with rotations in Manchester, Leeds, Stoke on Trent and Leicester. She transferred to gain specialist accreditation as a Clinical Geneticist from 1991, and trained within the Clinical Genetics Department in Leicester. After two short consultant locums in Nottingham and Oxford, she was appointed to a substantive consultant post in Northampton from April 1998, as part of the Oxford Genetic Regional Service. She is based in Northampton General Hospital and provides a countywide service, with clinics in Kettering and Northampton.

Dr Price leads general genetics clinics with the purpose of diagnosing inherited genetic syndromes in children with congenital malformations, learning difficulties and developmental delay; she provides genetic advice to families with inherited genetic conditions, organising and interpreting genetic test results and coordinating the medical care for families with complex inherited conditions.

Contact details

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

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.