The Aims trial has now been completed and was presented at the European Society of Cardiology in late August 2018, and published in September. A summary is published in News section of the websiter. Many thanks to all concerned. It has been a great success. Results from all five years’ echocardiograms have been analysed and there appears to be a significant difference between the treated group and the placebo group. Dr Child, Dr Aragon-Martin, Dr David Gaze (TGF beta) and Dr Anatoli Kiotsekoglou are authors on the paper. The Marfan Trust is thoroughly thanked for their support.
Industrial placement student Michael Garcia has drawn pedigrees and helped to write an application for a grant for a technician for Dr. Aragon-Martin. Ethical approval has been applied for, and Dr Child is setting up a European collaboration to provide new samples. Patients and families with isolated dislocated lenses, who do not have Marfan syndrome, are invited to volunteer. We are aiming to discover new genes for dislocated lenses. Insert pic 05 Disconected Lens (Ectopia Lentis near this paragraph)
Alex Wan has submitted a paper on his first new aortic aneurysm gene LMOD1 to a high-ranking journal. He will now commence to study genes for the second and third large thoracic aortic aneurysm families which should lead to further publications.
Attendance at 10th International Marfan Syndrome Consortium Conference: Amsterdam 3 – 5 May 2018
Alex Wan gave a platform presentation “LMOD1 – a New Causative Gene for FTAAD". This was well received and created much discussion especially with the Texas group with whom we are collaborating. Dr. Aragon-Martin presented a poster “Phenotype – Genotype Correlation in Marfan syndrome" to which several of his students had contributed. Michael Garcia, industrial placement student, presented a poster and analysis of whether inheritance from the mother or the father makes a difference in severity of Marfan syndrome. Insert pic 06 Jose, Alex and Michael, Amsterdam near this paragraph
This year was a busy one in the lab with four industrial placement students, four BSc students, and two volunteers.
• Incidence of gastrointestinal symptoms in connective tissue disorders (Dr Nashiz Inayet, (Clinical Research Fellow)
• Incidence and management of pneumothorax in Marfan syndrome – medical student SSC project (Saba Mahmood).
• Management of pain in Marfan syndrome – medical student Natasha Anno-Barnieh.
The above three projects were advertised in our newsletter and responses have been and will be used anonymously to provide data for new pamphlets, and publications.