What we have funded
1991 - Discovery of the Gene
A research fellow was funded and made a major contribution to the discovery of the gene on chromosome 15 responsible for this disease
1997 - Pregnancy Associated Risks with Marfan Syndrome
A research nurse, who worked on a study of the associated risks of pregnancy in Marfan syndrome women.
1998 - Summer Medical Student
Each summer, the six week Brian Adams Memorial Studentship is offered to a medical student to undertake a focussed project on an important aspect of Mafan syndrome. Results are publicised and published, and a patient/doctor information pamphlet produced and distributed by the Marfan Trust to the specialists concerned.
2000 - Sonalee Laboratory
The Trust made a major contribution to the funding of staff and equipment for the dedicated Sonalee Laboratory at St George’s University of London. The laboratory is equipped with an ABI sequencer which enables the research team to screen patients and their families for mutations (gene errors) in the Marfan gene. In each family where a mutation has been identified direct benefit has resulted. Whole families can be screened by DNA sent through the post to the Sonalee Laboratory. The doctors are able to identify babies at birth who are carrying the mutation. The best available treatment can then be offered throughout life. Over 180 mutations have been contributed to the Paris – held database of Marfan mutations, and international publications.
2001 - Information Pamphlets
The Trust has produced a number of information pamphlets regarding psychological, rheumatological, pregnancy, ENT, dental and ageing problems in Marfan Syndrome .
2002 - International Gene Map
Funding of students who helped to discover gene mutations in UK patients, which were contributed to the international gene map.