Exome Sequencing to Discover new causative genes for TAAD
Research type
Research Study
Full title
Discovery and Impact of New Causative Genes for TAAD (Thoracic Aortic Aneurysm and Dissection)
IRAS ID
99752
Contact name
Anne H. Child
Contact email
Sponsor organisation
Joint Research Enterprise Office, St George's University of London
Duration of Study in the UK
10 years, 0 months, 1 days
Research summary
An inherited heart condition can cause thinning and ballooning of the aortic wall. The aorta is the largest blood vessel to leave the heart, carrying oxygenated blood to all important organs including the brain. If this vessel ruptures, there is an 80% chance of death. Correct medicines and surgery can prevent death. The cause of this disease can be discovered using blood samples from affected family members. The genetic material (DNA) from 125 affected individuals, each representing an at-risk family, will be studied using up-to-date laboratory methods, to screen for old and new genes. These discoveries will lead to timely, correct treatment to maintain the vessel wall strength, thus saving and prolonging life in patients and their affected family members.
REC name
London - Bloomsbury Research Ethics Committee
REC reference
14/LO/1770
Date of REC Opinion
1 Dec 2014
REC opinion
Further Information Favourable Opinion