The MED13L family event took place in Centre Louis Lumière, Paris 75020, on Sept 21, 2019.
With Dr Thomas Smol, genetician at Lille hospital (CHU de Lille) and Professor at Lille University (Université Lille-II) who conducts a high level research on the MED13L syndrom and Dr Lyne Valentino, Head of research support for rare disease associations at French Foundation for Rare Diseases. During the session, she presented the MED13L results from the collaborative platform Genida international Project
All participants appreciated the meeting, which permits to strenghten the links between the MED13L community: professionals, parents, grand-parents and children
Thanks to the commitment of the teams involved in the Solidarity Week 2018, Accor hotel event , a sum of 1200€ has been recolted for the benefit of our association. We are grateful to the staff and the Direction of OREA HOTELS MANAGEMENT Accor Hotels who have shown their support and solidarity. This operation will allow us to finance future actions for our children.
Dr Henri-Marc Bourbon has been working for more than 25 years on the multiprotein Mediator (MED) complex which has a very important role in genes regulation. He is the "inventor" of the MED13L gene (MED for Mediator, number 13, and L for "like"). His team takes advantage of the Drosophila genetic model to investigate the molecular bases underlying the functional specificity of dedicated MED subunits in the transcriptional control of cell fate specification in-vivo.
Meeting with families
Thanks to David, Joanne and Angela
Well done, girls!
Silke Groth is 12-year-old Sina's mom and lives in Berlin. She works in the disability field and accepted to be the MED13L SYNDROME correspondent in Germany. We will have the chance to have soon a version of the site in German, which will allow us to reach more families. Silke will identify all scientific researches in Germany, raise awareness among institutions and animate the group of German families.
Also in project, the creation of a forum allowing the families which are not on Facebook to be able to share easily on our website.
This morning, Philippe, Cedric, Sabrina and a lot of friends, supported by the team of Je Cours Pour Toi (I run for you) run 10 km for our children, within the framework of les 10km de l'Hexagone. Nothing is impossible when strength meets courage!
THANKS YOU FOR YOUR EFFORTS !! especially Sabrina Boutros who is the origin of this event
A champion is born!
The participating MED13L members and friends will be supported by je cours pour toi (I run for You), an association of athletes who want to make sense of their efforts by serving a cause.
For Caroline Caumon, President of Je Cours pour toi, "it is very important to support new associations such as MED13L SYNDROME, to give them more visibiliy and efficiency.
If you want to participate in the event, run with us, for our children, to show them your support, contact Sabrina Boutros or Philippe Pupin : contact.med13L@gmail.com
below: Sandrine Jouot and Caroline Caumon, from "Je Cours pour toi"
Thanks to Morade and his generous talent!
On March 2, 2018, three French families met in Paris and the Constituent Assembly of the Association was created. These three isolated families had been able to make contact with each other previously through a Facebook group of "Simons VIP Connect" from the Simons Foundation Autism Research Initiative (SFARI) in New York.
Around a happy meal organized by Caroline and Philippe, the association started with the following distribution of roles:
Françoise Ropert Conquer: President
Sabrina Boutros: Vice President
Philippe Pupin: Treasurer
Cédric Boutros: Secretary