"Individuals carrying the same mutation can have a wide range of phenotypes" by Aline Verstraeten, UZA

Capsule, 2018 /Friday, June 8th, 2018

1. can you introduce yourself?

My name is Aline Verstraeten. I am a postdoctoral researcher at the University of Antwerp. I first did a PhD on Parkinson's disease, then I moved on to research on aorta pathologies. I focus on finding new genes for syndromic thoracic aortic aneurysm and on the search for modifying genes for syndromic forms of aneurysms such as Marfan syndrome. I am a scientist working in the laboratory (" Wet-lab and not a clinician.

2. can you explain the project 101 genomes Marfan?

The project is to find genetic factors that may explain why some people are very severely affected and others slightly affected, which is very important for patients because individuals with the same mutation may have a wide spectrum of phenotypes and it is important to know which patients follow more carefully as they are more likely than others to do a dissection Lethal.

3. Why did you agree to be part of the Scientific Committee of the project 101 genomes Marfan?

I think it is very important that many people come together to advance research on Marfan syndrome. There are several people in Belgium working on Marfan syndrome, but also in the Netherlands, France and elsewhere. I believe that a collaboration like this, where patients are involved, where researchers are involved, can only advance research. I also think it is important that different levels of scientists are involved, such as laboratory researchers and clinicians, and that several types of knowledge are grouped together.

4. as a scientist, what do you expect from project 101 genomes Marfan?

I hope we can find the genetic modifiers we're looking for. If we do that, it will allow us to better understand the mechanisms that underlie the disease and provide us with new avenues that we can specifically target to find new therapies. If there is a genetic factor that explains why some people are only slightly affected, this factor could be specifically stimulated in patients who are severely affected and try to improve their phenotype or even limit risk of fatal aortic dissections.

5. What is the key element for you that makes project 101 Marfan Genomes important for Marfan patients? What about other rare diseases?

For Marfan patients, as I said before, I think it's important for their life expectancy. And more generally, it is true that, in the context of rare diseases, it is important to bring all the knowledge and all patients together in one large group because while the disease is rare, it is difficult to find interesting leads. I am therefore convinced that this type of project can serve as an example for other rare diseases and that other researchers can draw on the approaches taken here and how many people from different disciplines collaborate on this project.

Ms. Aline Verstraeten, PhD
Cardiogenetics, Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium



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