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, Queen’s Road, Clifton, Bristol, followed by a drinks reception at 7 pm. It is free and open to everyone. The lecture has been organised by the Bristol Heart Institute and the University’s 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-Ecob’s 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.