Laboratories are portable and adaptable, settling quickly into new environments and circumstances. The Sonalee Laboratory has moved to the Institute of Ophthalmology, giving Dr Aragon-Martin a new focus as he explores the genes behind dislocated lenses (ectopia lentis). José “would really like to thank Professor Mariya Moosajee for hosting me in her Molecular Genetic laboratory at the Institute of Ophthalmology, the research arm of Moorfields Eye Hospital”.

I am working simultaneously on three projects outlined below.

1. Marfan syndrome

We are creating a neonatal Marfan syndrome UK database along the lines of the French international database for the gene fibrillin-1, which causes Marfan syndrome. This will help us correlate the clinical presentation of neonatal, infantile and classical Marfan syndrome patients who all have mutations in the central exons 24-32 of this gene. Rohan Bhupal, medical student at Imperial College, is helping me with this project.

2. Thoracic Aortic Aneurysm and Dissection

Our discovery of a new gene for TAAD, named LMOD1, has been accepted for publication. We continue to analyse the NGS (gene sequencing) data from 40 families with unexplained inherited aortic aneurysm. We are applying for a British Heart Foundation grant to continue this work in collaboration with Imperial College and Queen Mary’s College, University of London.

3. Ectopia Lentis

We continue to analyse Ectopia Lentis families, small and large, for a second and third new gene. This will help us to separate these families from Marfan syndrome families at the time of diagnosis, as they do not need cardiac follow-up.

Thank you

We would like to thank all donors who have specifically requested that their funds be used for research.

Special thanks to the Aortic Dissection Charitable Trust for their generous donation towards my research programme.

The Marfan Trust is registered in England and Wales under charity number 328070 at c/o 24 Oakfield Lane, Keston, Kent, BR2 6BY. Contact us at [email protected] or by phone on + 44 (0)333 011 5256
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