1. Could you please introduce yourself?

My name is Cécile Chabot. I have Marfan syndrome. I took part in the activities of the ABSM, founding this association with other directors. I’m particularly interested in the F101G for the hope it gives us in basic research.

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

Because there’s a big question in Marfan, and that’s the variability of disease expression. It’s still a real unknown for us: why some people are more affected by the syndrome, and why some are less so. For me, basic genetic research is one way of providing answers to the question of variation in disease expression.

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

My hopes are twofold On a personal level, I wanted to know whether this could help the people who follow me to refine their care strategies in the long term, but also, more generally in relation to other people with Marfan’s disease, to be able, for example, if I myself took part in the test sample, to help them better understand the disease and to help them receive more appropriate, more targeted care. In conclusion, for me, the F101G fills a gap that still existed, which is support for genetic research, and that’s what I find particularly important.

Cécile Chabot, DES European Law,
Master in Law, Jurist.

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