Chairman's statement
Les Tippin, Chairman of the Marfan Trust
In this our 20th year we celebrate the many magnificent achievements which have fulfilled our aims of providing research, education, and support for patients with Marfan syndrome and their families.
Sources of Funding
We are extremely grateful to all donors both large and small for their support, both financial and moral. Every penny raised has been used directly for one of our aims. In recent years we have been fortunate to receive several large donations from major charitable Trusts, individuals and corporate organisations all of which have enabled us to increase our endeavours, beyond our expectations.
Research Advances
The discovery of the Marfan syndrome gene, the mapping of over 200 mutations from UK patients and their families, family screening including prenatal diagnosis and pre-implantation genetic diagnosis, have all been made possible as a result of the Sonalee Laboratory funded by the Marfan Trust based at St George's, University of London. The laboratory staff together with research assistants and medical students working on related projects, have been funded by the Trust. The Brian Adams Memorial Student Research Fellowship was set up and is awarded annually for this purpose.
Raising Awareness
The Trust has produced a number of information pamphlets as a result of medical student projects regarding Psychosocial, Musculosketal, Ear, Nose and Throat, Dental, and Ageing Problems in Marfan syndrome. Also, the increased risk of aortic and cardiac problems in pregnancy for women affected with Marfan syndrome has been highlighted. Our Exercise in Marfan syndrome booklet makes specific recommendations. All pamphlets have been distributed to the relevant speciality, again funded by the Marfan Trust. The Marfan Trust Research programme has made a major contribution to the International Consortium which is co-operating and collaborating to increase research production by increasing patient numbers available for study. Anonymised family pedigrees, clinical details, and mutations discovered have been contributed to the Marfan gene map held in Paris. We have contributed the second largest number of mutations of any country in the world. We could not have done this without the enthusiastic co-operation of our patient population. In this way, UK families can help all Marfan syndrome families round the world by sharing clinical information about how they are affected, and what treatment is best.
Future Plans
All the previous research is a precursor to our ultimate wish to find preventative medicine for Marfan Syndrome which will delay or stop the aortic root thinning and dilating in the stages prior to aortic dissection. Although we are very glad that expert cardiac surgeons can repair or replace weak areas in the aorta and heart, even the surgeons would be grateful if we could remove the need for surgery, with its small attendant risk. The Marfan Trust has encouraged a nationwide medication trial. We hope that this major 5 year drug trial which is due to commence in 2009, will be funded in the near future. A network of 21 collaborating centres, all of whom have Marfan syndrome clinics, has been recruited to help.