Our Mission

An association driven by families, for families

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.

Our Story

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.

Our Missions

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.

The Scientific Council

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 Board of Directors

The association is led by a committed and united team:

Office

  • Françoise Ropert ConquerPresident
  • Marine SoyezSecretary
  • Loïc LaudetTreasurer

Board of Directors

  • Sabrina Boutros
  • Bénédicte Caulier
  • Delphine Facon
  • Loïc Laudet
  • Marion Ledunois
  • Claire Oudin
  • Philippe Pupin
  • Elsa Reveillère
  • Françoise Ropert Conquer
  • Sophie Salija-Stosic

Together, we are stronger

Because unity is strength, we encourage families to come together to exchange, support each other, and participate in research advancements.