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Details for Dr Ruth Newbury-Ecob

Personal details
Name Dr Ruth Newbury-Ecob
Job title Honorary Professor
Department Bristol Medical School (THS) University of Bristol
Contact details This expert can be contacted via the University of Bristol Public Relations Office.

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work+44 (0)117 331 8092
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Qualifications M.B., Ch.B.(Sheff.), M.R.C.P.
Professional details
Keywords congenital malformations
british heart foundation
congenital heart disease
tbox genes
new genetic technologies
obesity
Barth syndrome
inherited cardiac conditions
Areas of 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.