Our Research
Dr Anne Child, M.D., M.Phil., M.D., geneticist, as Medical Director of the Marfan Trust, heads the UK research effort. She has been working on Marfan Syndrome for 22 years and now works from St George’s Hospital, London. As well as important research work, she offers a diagnostic and genetic counselling service to families affected with Marfan syndrome.
“2,500 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. This is a year of concentrated activity as we screen 200 UK Marfan syndrome families for fibrillin-1 gene errors. Blood samples from affected individuals are being 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.
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 ultrasound measurements of the heart and aorta to guide our management?’
Our final aim is to educate patients, physicians and the general public about Marfan syndrome through articles and lecture to improve the diagnosis and management of families with the syndrome. The progress is heartening but we need your help to ensure the continuation of these essential projects to reduce suffering and find a cure.”
We would like donors to be involved in the Trust’s work and would welcome a visit to the Research Centre at St. George’s Hospital. We will keep donors fully informed of the research progress.