Our Research

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 :

Visit our 'Make a Donation' page to find our Sonalee Wish list if you are interested in donating equipment to the Lab.

Structural Cardiac Defect (Bicuspid Aortic Valve)

​Malformed heart valves and associated aortic aneurysms are found in 1 in 1,000 population. It is possible that these patients also have errors in the Marfan syndrome gene fibrillin-1.

Preimplantation Genetic Diagnosis (PGD) now available in the UK

​For those couples who wish to be referred for consideration of the pros and cons of preimplantation genetic diagnosis to assure a pregnancy which is not affected with Marfan syndrome, a private London hospital has now been granted a license to offer this service, in addition to the NHS service.

Arrhythmia in Children and Adults

​The aim of this project is to study the types and frequency of extra or missing heart beats, which can cause sudden death in Marfan syndrome.

The AIMS Study [The Aortic Irbesartan Marfan Study]

Along with British Heart Foundation we are funding a national trial of Irbesartan versus placebo. The main purpose of this study is to evaluate how effective a blood pressure treatment Irbesartan is for treating patients with Marfan syndrome.

Ectopia Lentis

In the absence of trauma, dislocated lenses are usually genetically determined, with a frequency of 1 in 5000 of the population worldwide. Since 1990, we have been referred a consecutive series of ectopia lentis patients from several ophthalmological centres in the UK.

USA Atenolol / Losartan Comparison Trial

In the USA they ran a medication trial which tested whether Losartan was more effective than Atenolol with regard to slowing aortic root enlargement.