Not confining himself to Marfan syndrome but extending his research to its overlapping conditions, Dr Aragon-Martin and his Sonalee Laboratory are dividing their time between two prestigious establishments, the William Harvey Research Institute and the Institute of Ophthalmology. Joined by his MSc Summer Students, José is researching new genes and gene changes behind a variety of disorders. Read on.
We finally moved our laboratory – the relevant equipment and consumables – to the William Harvey Research Institute at Queen Mary University of London (QMUL). Here, I am overseeing Vatsala Khurana (pictured right) who is studying for her MSc in Genomics Medicine at QMUL, continuing on from her medical degree in India.
Vatsala is exploring the genetics and gene changes causing unexplained and inherited thoracic aortic aneurysm and dissection – TAAD. Together we are working with a family, previously assessed at the Marfan Unit of St George’s Hospital, to discover if they have Marfan syndrome or a similar, related connective tissue disorder causing aortic aneurysm.
I can also be found at the Institute of Ophthalmology (UCL) where again, I am exploring new genes and gene changes, but for those that underlie unexplained, inherited joint hypermobility disorder. MSc genomics student Silvia La Penna is running my project, and I have prepared the relevant les and script to run the programs on the Sonalee Lab iMacs.
Silvia is studying for her MSc in Genomics Medicine at QMUL, after earning a BSc from the same university. She has worked in Florence as a lab assistant on cancer research. Her fluency in Italian, German and English has proved invaluable in translating external clinical reports and journals. We are studying a hypermobility family, who have been assessed at the Marfan Unit of St George’s Hospital, to discover if they have a connective tissue disorder which overlaps with Marfan syndrome.
Sanjana Babu is the third MSc student from QMUL who also is looking for an answer to inherited joint hypermobility disorder families.
Finally, I am continuing to research ectopia lentis (dislocated lenses) families, small and large, for a second and third new gene at the Institute of Ophthalmology with Professor Mariya Moosajee. This will help to distinguish these families from Marfan syndrome at the time of diagnosis.