Understanding MED13L Syndrome
A series of 10 episodes, each under 2 minutes, to better understand MED13L syndrome, its challenges, and its impact on families' daily lives.
This webseries is an informational journey for families and medical staff dealing with MED13L syndrome. 10 episodes combine researchers' and clinicians' perspectives to answer key questions for anyone affected by this syndrome.
Understand MED13L syndrome and how to identify it
Know the status of therapies and research
Understand the daily lives of affected families
🎬 Discover our complete documentary series
Our Mission & Commitment
Since 2018, the MED13L SYNDROME association has been working to bring together families affected by the syndrome, advance research, and raise awareness among healthcare professionals.
Our Story
The MED13L SYNDROME association was founded in March 2018 by three families from Paris and Nantes.
Its missions are:
- To raise awareness of MED13L syndrome
- To bring together families in France and around the world
- To support researchers working on this genetic anomaly
We work daily to strengthen ties between families, healthcare professionals, and researchers.
The Scientific Council
Created in 2020, it guides strategic choices and ensures scientific rigor.
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)
Key Figures
Discover the impact of the MED13L SYNDROME association in a few key figures.
50+
Families supported
15+
Research projects backed
20+
Medical experts involved
100%
Volunteer commitment
Take Action Based on Your Profile
Every contribution counts. Discover how you can get involved with us.
Our Partners
Stakeholders committed alongside us to advance research and improve the lives of those affected by MED13L syndrome.
