This academic year 2021-2022 we are going to supervise two Imperial College MSc student projects (June to September 2021) to analyse NGS (Next Generation Sequencing) data on TAAD (Thoracic Aortic Aneurysm and Dissection) and hEDS (hypermobile Ehlers-Danlos syndrome) to find genetic biomarkers that might be causing these conditions:

1.     Qasim Mansoor Ashraf will be working on TAAD family 1
2.     Lauren Lau will be working on TAAD family 2

This connective tissue condition shares clinical features with Marfan syndrome (MFS) and finding more about its genetic markers will allow us to understand better MFS.

We will be supervising, Husnaa Fathima Ali Azamathullah Khan (Queen’s University Belfast), for one of the summer studentships starting in June 2021 with a project title: “Review of the Genotype-Phenotype associations in Marfan syndrome”. We are very excited to have a summer student working remotely on this topic that is just starting to expand, so we can understand better what is known so far on the relationship between genotype and phenotype in Marfan patients. We are speculating that not only the position of the amino acid in the FBN1 protein but also the type of amino acid that has been exchanged is the cause for the difference in clinical features. This work will open a clear understanding for future research on this topic.

We are having a summer volunteer (1st year medical student Imperial College – Rohan Bhupal) starting in June

Research Manuscript Publications

Good news! The scoliosis paper has been granted publication status and will be online very soon. The gene TTLL11 is the 2nd gene associated with scoliosis, hurray! A second paper on scoliosis is scheduled to be published by the end of 2021.

We are still working on the LMOD1 gene for the condition called TAAD, and we hope to publish it this year 2021. We hope to be as successful as the scoliosis paper.

Research Grant Applications

Although we are fully funded by Marfan Trust, we always continue to apply for outside funding to help ease the burden cost of Sonalee Lab. We have applied recently to FightForSight but we were not successfully on this occasion. We will try again soon.

I just want to take this opportunity to say thank you, no, really, thank you very much. The generous donations to the Marfan Trust have helped us to educate students, volunteers, and ourselves in these connective tissue conditions that would otherwise be much more difficult to address.

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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