Help the Marfan Trust launch its appeal for £300,000 with a bang this #MarfanAwarenessMonth. We need additional donations to be sure of maintaining the Sonalee Lab and keeping our Research Director, Dr. José Aragon Martin, in post for the next three years so that the Marfan Trust can continue its ground breaking research. Without this additional funding, the Trust’s research risks grinding to a halt.
Please help us retain this important post. Donate now
The Marfan Trust is the only UK Marfan charity that funds its own laboratory undertaking medical research so that more is known about Marfan syndrome and its management. The results of our internationally recognised research enable doctors and surgeons to provide better treatment for patients in the short and long term.
Key to the Trust’s research success is our Research Director, Dr. José Aragon Martin who has spearheaded cutting edge Marfan research in the Trust’s laboratory for the last 10 years. With no regular organisational or governmental funding and no reserves, the Trust is dependent on donor funding to continue its important work and now needs to raise £300,000 to ensure that Dr. Aragon Martin can stay in his post. We need your help to meet this goal, please therefore give all you can. We've achieved so much already but have so much more that needs to be done. See our achievements up to now:
Under the Research Director’s leadership, the Trust has achieved the following medical breakthroughs:
- It formed an international consortium to identify the Marfan gene
The disease gene was identified on chromosome 15, permitting family screening for the first time. This is now an internationally used standard diagnostic tool.
- It was the first UK laboratory to provide research reports of 100 gene mutations
As a result, a diagnostic test for Marfan syndrome is now offered through the NHS, and is available to everyone in the UK.
- It co-funded a successful five year AIMS trial together with the British Heart Foundation
Results showed that the medication Irbesartan is best for children and adults for maintaining aortic wall strength. This should increase survival rate and lengthen lifespan for patients of all ages.
- It established a national research database of patients and families
This database provides vital data for current and future ethically approved research projects.
- It helped set up 22 national regional Marfan clinics, now in major NHS hospitals
To provide local diagnosis, management and care so people do not need to travel long distances.
Dr. Aragon Martin is currently working on research to:
- Predict the severity of Marfan syndrome
- Enable a clearer diagnosis leading to more specific care, as well as family screening
- Identify minor genes that could alleviate the effect of the Marfan gene to improve the condition
- Be able to distinguish Ectopia Lentis, Scoliosis, and Ehlers Danlos syndrome from Marfan syndrome and therefore provide correct management
- Improve the effectiveness of medication to prevent aneurysms
- Better understand how aneurysm genes produce abnormal development
- Survey the quality of life for young people with Marfan syndrome to better understand their needs
With the help of the Research Director and other staff and volunteers, the Marfan Trust also:
- Provides research, advice, education and support to patients, families and the medical profession
- Provides a helpline for enquiries from patients, family members, doctors, dentists, referring physicians and paramedical personnel which enables rapid access to specialised knowledge regarding medical and surgical care
- Holds regular patient conferences to update them on the latest research and to facilitate patient interaction, networking and support
- Teaches students via laboratory research (2 summer medical studentships and 4 BSc/MSc students per year) so future medical professionals understand and are aware of Marfan syndrome. In addition, the students increase scientific knowledge about Marfan syndrome as they contribute to academic publications
- Hosts PhD students. Past students have studied: glaucoma, Marfan syndrome, dislocated lenses, adolescent spinal curvature, familial ascending aortic aneurysm and dissection. As a result, these overlapping conditions can be differentiated from Marfan syndrome, enabling clearer diagnosis and specific treatment
- Raises £100,000 per year from donors to provide research, education and awareness of Marfan syndrome. This funds salaries, consumables, website, publications and media costs, conferences and the helpline
- Provides research updates and practical advice to supporters via two paper newsletters a year plus frequent e-communications to over 2000 supporters, educational publications and videos
Anything you could give would be hugely appreciated and would make a big difference.
Thank you so much.
The Marfan Trust