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.

Research Update Spring 2018

Good News! We are extremely grateful to the Trustees of the charity “Make My Day Better” for their most generous travel grant of £2,984 which took three of our research group to Amsterdam to the

What is Aortopathy?

Authors: Anne Child MD FRCP, Marjan Jahangiri FRCS (CTh), Alex Wan MRes, Genetics Research Centre and Cardiothoracic Surgery, St Georges University of London and St Georges NHS Hospitals Foundation Trust.  

What is Marfan Syndrome?

Dr Anne Child MD FRCP   Traditionally Marfan syndrome is a clinical diagnosis based on physical examination, personal and family medical history. Twenty five percent of patients are the first one affected in the family.…

The Role of new genes in Familial Ascending Aortic Aneurysm

We are at present seeking funding to analyse a group of families with ascending aortic aneurysm who have not demonstrated mutations in the known genes. A pilot study of such families funded by the British Heart Foundation (BHF) and the Marfan Trust has discovered 2 new genes, which are being reported.

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.