"Transforming a drama into a creative force" by Prof. Guillaume Jondeau

Capsule, 2018 /Friday, June 8th, 2018

1. can you introduce yourself?

My name is Guillaume Jondeau, I am a cardiologist at the Bichat hospital in Paris. I am responsible for the national reference centre for Marfan syndrome and related diseases which is held at the Bichat hospital also, of the French sector of rare vascular diseases and of the European sector called VASCERN " European rare disease network ", also on rare vascular pathologies.

2. can you explain to us what is the project 101 genomes Marfan?

The P101GM is intended to explain some of the variability of the severity of a particular pathology, Marfan syndrome, which is not known to explain today. The interest in understanding the factors of this variability is to help predict the severity of a person's achievement, giving prognostic information; it can also be understood what factors are responsible for a severe or not severe form and possibly to play on these factors in order to promote the less severe forms, and possibly allow to heal. The potential fallout goes beyond Marfan's syndrome since the aortic aneurysm (i.e., aortic dilation) is observed in a much larger population than that attained by Marfan syndrome. Understanding in Marfan syndrome what is responsible for the dilation of the aorta may be applicable to other cases of aortic dilation.

Marfan syndrome combines attacks in different systems. The prognosis is centered by the cardiovascular impairment since there is a risk of aortic dilation therefore rupture but there is also an ophthalmologic impairment that can cause blindness, a skeletal impairment that can cause scoliosis, a thoracic deformation and therefore pain, discomfort, skin damage, neurological impairment, etc. These different systems can be achieved more or less harshly each. And it is not known to predict the severity of the attack in a system even depending on the severity of the attack in another. The P101GM is intended to investigate the genetic determinants that may explain the severity or absence of severity, initially in the cardiovascular system, but in the medium term in the other systems associated with Marfan syndrome which is associated with a mutation in a particular gene.

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

It is important for me to participate for many reasons:

The first is that it is a topic of work for me for decades. The first consultation centred on Marfan syndrome in France was founded in 1996, so it's really been decades!

The second is that it is a fundamental question to which we have not been able to answer until today and this remains one of the challenges to be noted that trying to explain in genetic diseases why some are severe and others are not Severe. The answers can have implications in Marfan's syndrome but also beyond, even in the way of approaching the problem.

The third is that it is the result of a process of special people who are the father and the mother of a child with a Marfan syndrome. They have transformed this drama into a creative force a very remarkable motive. They have a weight to train everyone behind them that is unique and so the project is progressing at a really impressive speed. Everyone is attracted, pushed and trained by their momentum. It is remarkable, it is very motivating. Having someone who is motivated by a personal story and who is able to make a kind of scientific consensus behind it because it can understand what it is, it is an extraordinary force since it does not encroaching on the domain of person and it Adds a particular sensibility that scientists do not even know very well about the pathology, even if they are more or less directly concerned with their interest.

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

The expectations of this project are multiple. First of all there are expectations of scientific results which are therefore to explain the variability. From there, to be able to treat people or give them more precise information and treat not only the Marfans but the people who have other pathologies that are approaching.

The expectation is also to participate in something that is international since in this Committee there is not only Belgium but also French, that it is about involving many more people than that, of join international consortia, Montalcino aortic Consortium, and also to integrate this project into another European project on rare diseases, the European reference network I'm dealing with, that's one of the reasons I'm here. So there are a lot of factors that combine to say that it is very interesting to participate in this adventure.

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

The consequences that can be expected for the patients in this project are multiple. The first is that it is reassuring to see that there are people who work together on a rare pathology that touches you. It is good for patients to see that there is a job that they are aiming at either direct or indirect. Another drop is that if you understand the factors that explain the severity of the pathology of Marfan's syndrome and well it may be easier to understand what explains the severity of other syndromes.. If we understand what makes the infringement serious and what makes the infringement not serious and that we can use this information to make the attacks less serious in patients, patients will derive direct benefits, not today, may not be tomorrow but perhaps the day after tomorrow in terms of the severity of their personal attacks either for Marfan's syndrome but also for other pathologies since the results may be extended to other pathologies genetic or rare.



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