3 November 2010
A University of Bristol public lecture will explore what
genes are, how genes are found for particular conditions, and how
by improving the understanding of inherited heart disorders
patients and families can be better cared for.
The last decade has seen major advances in the field of genetics
allowing discovery of genes causing a range of inherited heart
disorders. These include congenital heart disease, the
commonest birth defect, and rarer conditions such as cardiac muscle
disease and disorders of heart rhythm that are not diagnosed until
childhood or adulthood as symptoms develop. Sadly some of
these conditions lead to sudden death in child or adult life.
Dr Ruth Newbury-Ecob, Consultant in Clinical Genetics at
University Hospitals Bristol NHS Foundation Trust and Honorary
Reader in Medical Genetics at the University of Bristol, will
discuss how research in this field has led to a better
understanding of the causes of inherited cardiac conditions.
The public lecture entitled, I give you my heart - genetics and
inherited heart disorders, will take place at 6 pm on Monday,
November 8 in the Wills Memorial Building, Queens Road, Clifton,
Bristol, followed by a drink reception at 7 pm. It is free
and open to everyone. The lecture has been organised by
the Bristol Heart Institute and the Universitys Public and
Ceremonial Events Office.
Dr Newbury-Ecob said: Understanding how normal genes work and
finding out how faulty genes affect the heart has allowed better
diagnosis, screening and treatment for a number of conditions
including hole in the heart, rupture of the aorta and conditions
which affect the heart rhythm.
Dr Newbury-Ecobs research focuses on the genetic causes of
congenital malformations, particularly of the heart and upper
limb. She 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. She collaborates
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. She has represented clinical genetics at the Royal
College of Paediatrics and Child Health and the Royal College of
Physicians and on a Department of Health Advisory Panel for Genetic
Research.
She has worked in Bristol for 14 years developing a centre of
excellence providing genetic services for patients in Bristol and
Bath. Together with cardiology colleagues from the Bristol
Heart Institute and Bristol Royal Hospital for Children she is
developing new services for patients and families with Inherited
Cardiac Conditions and the National Specialist Commissioning
Advisory Group service for Barth syndrome.
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