"A unifying project for patients' associations, a European minimum" by Stéphanie Delaunay

Capsule, 2018 /Friday, June 8th, 2018

1. can you introduce yourself?

My name is Stephanie Delaunay, I am president of the French Association Marfans.

2. Why do you support the project 101 genomes Marfan of the Fondation 101 Génomes ?

The French association Marfans has decided to support this project from the beginning because it is an ambitious project that will allow researchers and scientists working on Marfan syndrome to better understand the variability of Marfan syndrome within patients and even within people in the same family.

This project will also allow us to have new therapies thanks to a better understanding of these phenomena and also a predictability of the evolution of Marfan syndrome that could be interesting for the follow-up of patients.

This is a very important project for us, we are committed to it: several members of our board of directors are helping, quite modestly but as far as possible, this project and we will be providing financial assistance soon to contribute to the project.

3. as a person concerned with Marfan syndrome, what do you expect from the 101 genomes project?

This project brings a lot of hope to patients and families with the disease. The hope already of knowing how the disease will evolve by taking more account of the individual in the end since each Marfan has his own disease and develops it differently.

Management could be adapted in a more targeted way in these patients by the better understanding and idea of its evolution. And finally, of course, there is hope for a targeted therapy on Marfan syndrome that may prevent patients from developing certain symptoms in the future.

4. Do you want to add something?

As a French association, we are very pleased with the European collaboration that is taking place around this project. It is thought to be a unifying project for scientists and for members of the various reference centres in Europe - this is already the case, they already work with each other quite often - but also for patient associations.

We think it could be a unifying project for these patient associations, a minimum European. And for us, it also brings hope, since all together, we will be more numerous and therefore more efficient, if everyone devotes a little time, a little money to this project that brings a lot of hope to families, we think we could be stronger and go faster in understanding the syndrome and implementing and implementing therapies for this Marfan syndrome.

Another important point that we wanted to point out as a patient association is that we are really very surprised and very admiring of the investment of Romain and Ludivine in this project. To volunteer myself and work next door as is the case of Romain and Ludivine, we know how difficult it is to launch a project and we are very pleasantly surprised at the scale that this project has taken on at European level and the will and dynamism that Romai n and Ludivine have put in this project. We are very happy to help within the limits of our possibilities.

Stéphanie Delaunay
President of the French Association Marfans


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