3,000 families with Marfan syndrome have been ascertained in the UK and registered on a centralised and secure database, providing scientific material necessary to answer a multitude of questions rapidly.
This research programme has attracted invitations to join EU and international collaborative projects. It continues to spearhead the involvement of UK scientists in the International Consortium which discovered the Marfan gene location on chromosome 15, reported in October 1990.
We screen 300 UK Marfan syndrome families for fibrillin-1 gene errors. Blood samples from affected individuals have been collected to look for mutations in the coded message which produces fibrillin, the fine protein fibre known to be defective in this condition. Our future aim is to test medications and gene therapy believed to strengthen connective tissue, thus preventing blindness, curved spine and heart trouble.
We are co-organisers of a national 21 centre medication trial of Irbesartan (AIMS study) to be completed in March 2018. This medication promises to increase lifespan by keeping the aortic wall architecture strong. Clinical projects based on the 1,250 families under our direct care include analysis of the computerised database to answer questions such as :
- ‘What signs enable us to predict patients at high risk of aortic rupture?’
- ‘Why do some affected children have learning difficulties?’
- ‘Can the type of mutation predict the clinical severity?’
- ‘What are the most specific measurements of the heart and aorta to guide our management?’