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Dr Ruth Newbury-Ecob

Expertise

My research focuses on the genetic causes of congenital malformations, particularly of the heart and upper limb. I led the British Heart Foundation funded project that identified the first gene causing congenital heart disease, and a new gene family known as Tbox genes. I collaborate with colleagues in the UK and worldwide working on rare genetic syndromes as a model for normal human development. Other research interests include obesity and new genetic technologies. I have represented genetics at the Royal College of Paediatrics and Physicians and on a Department of Health Advisory Panel for Genetic Research. Together with cardiology colleagues from the Bristol Heart Institute I am developing services for patients and families with Inherited Cardiac Conditions and the NSCAG service for Barth syndrome.

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Key words

  • congenital malformations
  • british heart foundation
  • congenital heart disease
  • tbox genes
  • new genetic technologies
  • obesity
  • Barth syndrome