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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when contacting the Public Relations Office.
work+44 (0)117 331 8092
email: public-relations@bristol.ac.uk
|
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.
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