Since 2018, the MED13L SYNDROME association has been working to bring together affected families, support research, and raise awareness among healthcare professionals. Together, we are building a more supportive and informed future around MED13L syndrome.
Created in March 2018 by three families from Paris and Nantes, the association was born out of a vital need: to break out of isolation, understand MED13L syndrome, and support scientific advancements.
To raise awareness of MED13L syndrome
To bring together families in France and internationally
To support researchers working on this rare genetic anomaly
Every day, we strengthen the links between families, healthcare professionals, and researchers.
Created in 2020, it ensures scientific rigor and guides the association's strategic choices.
It is composed of European practitioners and researchers recognized for their expertise in MED13L syndrome:
Dr Jamal Ghoumid
Co-president – Geneticist, CHRU Lille
Thomas Smol
Co-president – Geneticist, CHRU Lille
Dr Roseline Caumes
Pediatrician, CHRU Lille
Dr Johnny Bou Rouphael
Researcher, Brain Institute (Paris)
With the support of Pr Jean-Louis Mandel, former director of IGBMC (University of Strasbourg).
The association is led by a committed and united team:
Because unity is strength, we encourage families to come together to exchange, support each other, and participate in research advancements.
