Research in the Sonalee Laboratory
An update from Dr Aragon-Martin
Dividing his time between two prestigious establishments, the William Harvey Research Institute at Queen Mary University of London and the Institute of Ophthalmology, Dr Aragon-Martin continues to deepen his knowledge of connective tissue disorders and their genetic make-up.
Queen Mary University of London (QMUL)
This academic year 2023-2024 I am supervising five Queen Mary University of London MSc students’ projects (4x April to September) and (1x June to December) to analyse NGS (Next Generation Sequencing) data on HTAAD (Hereditary Thoracic Aortic Aneurysm & Dissection), and hEDS (hypermobile Ehlers-Danlos syndrome) to find genetic biomarkers that might be causing these conditions; and also, a short project, one student with a literature review on EDS:
All lab-based projects are on 2x HTAAD families and 2x hEDS families:
1. Mrs Jeyabharathi Jeyaraj Kathirvelan is studying the DNA pieces that do not belong to the production of the protein, also known as introns.
2. Ms Roshanak Fekri Yazdi is studying the DNA pieces that come before and after the genes and between genes.
3. Ms Srivarshini Govinda Srinivasan is studying large DNA pieces that can be seen as a problem when there is less or more of this type of DNA than expected, also known as CNV (Copy Number Variations).
4. Ms Chandana Veshala is studying large DNA pieces that can be seen as deletions, duplications, insertions, translocations, inversions, also known as SV (Structural Variants).
All non-lab-based projects are done directly from the laboratory computers:
1. Ms Hsin-Yi Yang is trying to find the latest updates and news on the genetics of EDS by doing a literature search (Ehlers-Danlos syndrome).
These two types of connective tissue condition share clinical features with Marfan syndrome (MFS) and finding more about its genetic markers will allow us to understand better MFS.
We have been supervising Ms Silvia La Penna for one of the summer studentships 2024: she was able to help us in the lab creating genetic family pedigrees, doing PCRs to finish last year MSc projects, and supervising MSc projects from this academic year.
Institute of Ophthalmology – University College London (UCL)
This academic year 2023-2024 we are supervising one UCL PhD student’s project to analyse NGS data on PCG (Primary Congenital Glaucoma) to find genetic biomarkers that might be causing this condition:
1. Mrs Nicola Cronbach is studying the DNA pieces that change the production of proteins, also known as indels and point mutations.
This connective tissue condition shares clinical features with Marfan syndrome (MFS) and isolated Ectopia Lentis, therefore, finding more about its genetic markers will allow us to understand better MFS.
Research Manuscript Publications and Dissemination of the results
We are one of the authors in a review with one of our Ectopia Lentis (EL) collaborators, Mr Aman Chandra. This is expected to be published this year 2024. It is going to be an updated review on the genetics of EL.
We are going to be presenting at the ASHG (American Society of Human Genetics) 2024 in November our research findings from 2 of the MSc students. We are not allowed to discuss any of these findings until further notice, therefore, watch this space.
Research Grant Applications
Although we have been fully funded by Marfan Trust for many years since I have been the director of Sonalee Laboratory, we always continue applying for outside funding to try to help ease the burden cost of the lab. We applied to the British Heart Foundation back in January 2023 for a grant project on HTAAD for £350,000 for 3 years and resubmitted with review comments back in January 2024 for £260,000 for 2 years, however it has come back recently with an unsuccessful proposal, and now we can not apply for the same grant project again on the same topic, the HTAAD screening analysis. We are not completely sad with the outcome since we have already discussed this with other collaborators from our network, and they are experiencing the same outcome.
· Our next step will be to apply for the same study but this time as a PhD project for 3 years. Professor Panos de Loukas , my QMUL Head of Department, is very influential and is helping us rewrite the project so it is suitable material for a PhD student. Fingers crossed!
THANK YOU
I just want to take this opportunity to say thank you, no, really, thank you very much. The support by donations to Marfan Trust has helped us to educate students, volunteers, and ourselves in these connective tissue conditions that are yielding up their secrets as to their causative genes that otherwise will be much more difficult to address.
