1. Could you please introduce yourself?

My name is Stéphanie Delaunay, and I’m President of the French Marfans Association.

2. Why do you support the 101 Genomes Foundation’s 101 Genomes Marfan Project?

The French Marfans Association decided to support this project from the outset, as it is an ambitious one that will enable researchers and scientists working on Marfan syndrome to better understand the variability of Marfan syndrome within patients and even within individuals of the same family.

This project will also enable us to develop new therapies thanks to a better understanding of these phenomena, and to predict the evolution of Marfan syndrome, which could be of interest for patient follow-up.

It’s a very important project for us, and we’re committed to it: several members of our Board of Directors are helping, quite modestly but as much as possible, with this project, and we’ll be making a financial contribution in the near future.

3. As someone affected by Marfan syndrome, what do you expect from the 101 Genomes Project?

This project brings a great deal of hope to patients and their families. The hope is already to know how the disease will evolve, taking more account of the individual in the end, since each Marfan has its own disease and develops it differently.

Management of these patients could be better tailored to their needs, thanks to a better understanding and insight into their evolution. And finally, of course, there is still hope of a targeted therapy for Marfan syndrome that may prevent patients from developing certain symptoms in the future.

4. Would you like to add anything?

As a French association, we’re very pleased with the European collaboration that’s taking shape around this project. We think it’s a unifying project for scientists and members of the various reference centers in Europe – they already work together quite often – but also for patient associations.

We think it could be a unifying project for these patient associations, at least in Europe.. And for us, it’s also a source of hope, because together, we’ll be more numerous and therefore more effective. If everyone devotes a little time, a little money to this project, which brings so much hope to families, we think we could be stronger and move faster in understanding the syndrome and in developing and implementing therapies for Marfan syndrome..

Another important point we wanted to make as a patient association is that we are really very surprised and very admiring of Romain and Ludivine’s investment in this project. Being a volunteer myself, and working on the side like Romain and Ludivine, we know how difficult it is to launch a project, and we’re very pleasantly surprised by the scale this project has taken on at European level, and by the will and dynamism Romain and Ludivine have put into it. We’re happy to help in any way we can.

Stéphanie Delaunay
President of the French Marfans Association

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