Founded in 2021, our association brings together families living with MYT1L syndrome and the professionals committed to supporting them. A rare genetic disease, still little known — but one for which every year brings new progress.

 

What has been built in less than five years:

• official recognition (Orphanet 647799, 2023),

• a National Diagnostic and Care Protocol published in February 2026,

• A network of medical collaborations. In France, Dr Juliette Coursimault, clinical geneticist at Rouen University Hospital, MYT1L gene specialist and medical reference alongside families, works in connection with the AnDDI-Rares network and the National Rare Disease Reference Centers (CRMR). Internationally, collaborations are established with the teams of Dr Moritz Mall and Prof. Maja Hempel in Heidelberg (Germany), as well as those of Dr Granadillo de Luque and Dr Dougherty in St. Louis (United States).

• an expanding international associative network, with The MYT1L Project Foundation in the United States (2024) and the association ExtraValientes MYT1L in Spain (2025).

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What drives us

• Know more to understand better.

• Understand better to support better.

• Support better to open up new possibilities.

In practice: raising awareness of the syndrome, supporting families at every stage and in every area of life, fostering the sharing of experience and encouraging research.

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What we believe

No one should face this disease alone.

Knowledge is advancing. So is cooperation.

And it is together — families, clinicians, researchers — that new perspectives open up.