Marfan Research Continues
We hope everybody is doing well, keeping healthy and fit under the current circumstances. We wanted to give you an update on what’s happening to our research into Marfan syndrome at the Sonalee Laboratory. Fortunately, when we saw that the early stages of the Covid-19 outbreak were taking us to a similar scenario as Italy and Spain, we decided to prepare well in advance to work remotely.
So, at this important time in our lives, the Sonalee Lab wants to reassure everyone that we have not stopped working and that we are still on target to continue with our research programme.
As a result, the Sonalee Lab is currently concentrating on the following research projects which are all essential to our further understanding of Marfan syndrome and its treatment:
1- Writing ethical approval forms for several projects on Marfan syndrome and related fibrillinopathies, including: Marfan syndrome, Thoracic Arotic Aneurysm and Dissection (TAAD), Ehlers-Danlos syndrome (EDS), and Scoliosis, Ectopia Lentis;
2- Working with the legal and logistics of transferring samples from our previous location to Imperial College, and communicating with all interested parties;
3- Educating ourselves on Next Generation Sequencing (NGS) analysis of large genetic datasets through learning different computer programmes (bwa, samtools, gatk, ANNOVAR, SnpSift, SnpEff and others);
4- Analysing large datasets processed on NGS platforms from Marfan syndrome and related fibrillinopathies projects; and
5- Working on several papers to be published in 2020 on novel genes: one is related to Scoliosis and the other to TAAD. These two clinical features are related to Marfan syndrome and the hope is that they will help us to better understand this syndrome.
I would like to take this opportunity to thank you all for your continuing kind donations to the Marfan Trust, which is the primary funding body to Sonalee Laboratory, and for all those fundraising so hard on our behalf.
A HEARTFELT THANK YOU!
Dr. Jose Antonio Aragon-Martin
Director, Sonalee Laboratory