The Marfan Trust
Founded in 1988, the Marfan Trust funds research into the cause and prevention of Marfan syndrome, a dominantly inherited cardiac disorder which also affects eyes and skeleton.
What is the purpose of the Marfan Trust?
The main objective of the Trust is to support medical research so that more is known about Marfan syndrome and its severity. The results of our internationally recognised research enable doctors and surgeons to provide better treatment for patients in the short and long term.
Our research work covers the whole of the United Kingdom and the Marfan Trust is the only charity in the UK that primarily supports research into Marfan syndrome.
Suggestions for research projects come from patients who voice concerns about ageing early, planning to have normal children, wishing for a cure, wanting early diagnosis.
Every clinic patient may be asked to volunteer for ongoing projects which directly benefit them. Research results are communicated directly to patient and physician in charge.
The Trust has funded setting up of the Sonalee laboratory in which Marfan gene mutations provide the basis for correct diagnosis. It is a nationally and internationally recognised referral centre of excellence for Marfan syndrome diagnosis and management, with 3,000 UK families on a research database.
Educational literature and pamphlets have been provided for medical and lay audiences worldwide by our Research Group.
All our Trustees are either affected or have a close family member who is affected. The Trustees prioritise the research projects and decide which ones to fund.
The Research of the Marfan Trust led by Dr. Anne Child
Dr Anne Child, M.D. FRCP clinical 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.
“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. This is a year of concentrated activity as we screen 100 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.
We are co-organisers of a national 23 centre medication trial of Irbesartan (AIMS study) commencing September 2010. 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 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.