by Dr Anne Child, MD FRCP
Since 2017, 15 summer students, all medical students, have applied for a six-week funded research post, to pursue a research topic of great interest to our supporters. This has included nine female and six male students. They have applied from medical schools all over the UK, and one from India. Some working remotely and some actively with staff in London. Speciality supervision has been arranged through members of our advisory commitee. All projects have been presented remotely to our supporters, in our October annual national information day. Most recently, this day was attended by over 159 supporters.
Funding is provided from supporter donations, and each student is awarded £1.000. In addition, travel funding is provided if the topic is presented at a conference nationally or internationally, reaching a wider audience.
Results
Their results have been used for informagion pamphlets and videos posted on our website and distributed throughout our Marfan clinic network. They have also inspired webinars. One student is co-author of a chapter on gastrointestinal problems in Marfan syndrome.
Research topics have included diagnosis and management, newborn Marfan syndrome, prenatal diagnosis, eye disease, pain management, DNA mutations, growth management, GI problems, CT scans, and psychological impact on families, which was the project of Laxmi Thileepan, pictured above.
Summer 2025
This summer’s students will be tackling fatigue in Marfan and LDS syndromes, update on pain management, and digital pedigree preparation in families with aortic aneurysms, under investigation for new causative genes.
Impact
A survey of the impact of these projects on the students has indicated a 100% enthusiasm, with students enjoying their me, learning research techniques which in one case has led to a career in medical research, and in all cases, leading students to an understanding of Marfan syndrome diagnosis and management.
In one instance a Marfan Trust student, now a medical graduate who was in A&E at 3am admitted a 30-year-old man with unexplained chest pain and shortness of breath. The doctor suspected Marfan syndrome, a chest x-ray revealed pneumothorax, and an echocardiogram revealed a slightly enlarged but intact aorta. The pneumothorax was treated, and two days later the patient left, free of chest pain, and with follow-up genetic and cardiac appointments. His family was also screened for Marfan syndrome.
