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Together facing MED13L syndrome

Let's join forces to support families, raise awareness, and advance research.

Make a donation Learn more about the syndrome

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.

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Understand MED13L syndrome and how to identify it

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Know the status of therapies and research

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Understand the daily lives of affected families

Learn more about the syndrome

🎬 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.

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Dr Jamal Ghoumid

Co-president – Geneticist, CHRU Lille

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Thomas Smol

Co-president – Geneticist, CHRU Lille

👩🏻‍⚕️

Dr Roseline Caumes

Pediatrician, CHRU Lille

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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.

Families

Find support, share your experience, and access tailored resources to help your child.

Join our Facebook group

Volunteers

Join us to support families and contribute to our awareness campaigns.

Become a volunteer and write to us

Companies

Support our cause through corporate sponsorship and participate in solidarity actions.

Support the association

Donors

Your donation makes a difference. Support research and the association's actions.

Make a donation

Healthcare Professionals

Access medical resources and join our network of experts.

Access resources

Researchers

Collaborate with our network of researchers and contribute to advancing knowledge.

Write to us

Our Partners

Stakeholders committed alongside us to advance research and improve the lives of those affected by MED13L syndrome.

Logo de Maladies Rares Info Services - partenaire de l'association MED13L
Maladies Rares Info Services
Logo de EURORDIS - partenaire de l'association MED13L
EURORDIS
Logo de Alliance Maladies Rares - partenaire de l'association MED13L
Alliance Maladies Rares
Logo de CHU Lille - partenaire de l'association MED13L
CHU Lille
Logo de GÉNIDA - partenaire de l'association MED13L
GÉNIDA
Logo de AnDDI-Rares - partenaire de l'association MED13L
AnDDI-Rares
Logo de DéfiScience - partenaire de l'association MED13L
DéfiScience
Logo de MED13L Syndrome - partenaire de l'association MED13L
MED13L Syndrome
Logo de Simons Searchlight - partenaire de l'association MED13L
Simons Searchlight

Would you like to become a partner of our association?

Write to us

Frequently Asked Questions

Find quick answers to the most common questions about MED13L syndrome and our association.

What is MED13L syndrome?
MED13L syndrome is a rare genetic disorder caused by mutations in the MED13L gene located on chromosome 12. It primarily affects cognitive development, language, and sometimes behavior. The prevalence is estimated between 1.5 and 2 cases per 100,000 births. Learn more about the syndrome
What are the symptoms of MED13L syndrome?
Symptoms may include: intellectual disability, global developmental delay, language and learning difficulties, visual and hearing problems, epilepsy, and orthopedic issues. Important: every child is different and manifestations can vary considerably. Discover more details
How can I donate to the association?
You can donate online through our HelloAsso platform. All donations are eligible for a 66% tax reduction of the amount donated (within the limit of 20% of taxable income). You will automatically receive a tax receipt. Donate now
How can I join the association or become a member?
You can join the association via our online membership form. Membership is open to affected families, healthcare professionals, researchers, and anyone wishing to support our cause. Join the association or contact us to become a volunteer.
What resources do you offer to families?
We offer a 10-episode educational webseries, a comprehensive information brochure, a private Facebook group for families, medical resources, and access to our network of experts. Discover all our resources
What is the current state of MED13L syndrome research?
Research is progressing with approximately 300 families connected worldwide. Teams led by Dr. Jamal Ghoumid at CHU Lille and the Brain Institute in Paris are conducting advanced studies. Our scientific council created in 2020 guides strategic directions. Learn more about our mission

Can't find the answer to your question?

Contact us