Medical collaborations & Calls for collaboration
Make known, Support, Inform, Engage, Collaborate.....
PNDS MYT1L: A new milestone for care
The National Diagnostic and Care Protocol (PNDS) dedicated to MYT1L syndrome constitutes the official reference for harmonizing the healthcare pathway for patients, in France and abroad, adapting to the specificities of each country.
🎯 The 3 main objectives
Harmonize and Guide: Offer a common framework for care (diagnostic and therapeutic) across the entire territory to reduce medical wandering.
Supporting Professionals: Providing practical support to doctors (general practitioners and specialists) as well as paramedical professionals, for precise care.
Improving Daily Life: Ensuring a better quality of life for patients and their families by anticipating the specific needs related to the MYT1L gene mutation.
⚖️ A valuable administrative and medical tool
Reference document: It helps the attending physician to establish the treatment protocol, in particular to facilitate obtaining exemption from the co-payment (Off-List Condition).
Scientific expertise: Developed according to the rigorous method of the High Authority for Health (HAS), it is based on an exhaustive analysis of international bibliographic data.
Evolvability: This document describes the current reference approach (deletions or point variations) and will be regularly updated according to scientific advances.
This National Sports Development Plan (PNDS) is the result of an exceptional multidisciplinary effort! THANK YOU!
▪️ Main editor: Dr Juliette COURSIMAULT (CHU de Rouen / INSERM U1245).
▪️ Working group (writing and proofreading): A huge thank you to all the experts who worked on this writing: Beatrice Dubern, Christine POITOU BERNERT, @Anne-Marie GUERROT, François Lecoquierre, @Lucie KROPFELD, stephane rondeau, Anthony Soter, Soizic Maingant, Flore Schnitzler, as well as @Aurélie CHUPIN, @Marie GENTIN and @Laura LECHEVALIER.
🚩 Don't ignore the rare genetic complex neurodevelopmental disorder linked to the MYT1L gene any longer! EDUCATE YOURSELF! It's time to change possibilities, transform trajectories, and ease the pain of those affected, their caregivers, and siblings.
🚩 Did you know? There's no expiration date in genetics! Returning to genetics for further research (exome and genome) is possible at any age! 👉 Find out more: https://anddi-rares.org/les-centres-de-diagnostic-genetique/
You can choose to know at any age. You can help to know at any age.
Watch the Replays in english translation
of the 2nd International MYT1L Day Online
Association Les Extra-Vaillants MYT1L,
Overview of Knowledge and Research in Clinical and Basic Genetics in France, Germany, and the United States
Click on the image
Neurodevelopmental Disorders and Epilepsy,
Nutritional Aspects in MYT1L Syndrome,
and Transition from Childhood to Adulthood
Click on the image
Characterization of language and prosody
Cognitive and behavioral manifestations
in MYT1L syndrome
Click on the image
👏 THANK YOU to the AnDDI-Rares Health Network for their trust and financial, technical, and human support, which made this day possible and these replays accessible.
You can find all these resources, and many more, on the AnDDI-Rares Health Network YouTube channel andon the Extra-Vaillants MYT1L YouTube channel.
ROUEN JUNE 5, 6 and 7, 2025 2ND DAY FAMILIES, CLINICIANS, RESEARCHERS
AROUND THE MYT1L GENE
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More than 130 members of several families in person, including 34 Vaillants, aged between 2 and 35, from 10 different countries
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Professionals mobilized from France, Germany and the United States
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200 people on site in person on the day of the conferences
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an international videoconference connection
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simultaneous French/English and English/French translation
Thursday, June 5 Afternoon of games and meet-up at HAPPY CITY
Friday, June 6 Conferences in French with simultaneous English translation
Saturday, June 7. City tour on the little tourist train and dinner at Chez Madame
Sunday, June 8. Friendly gathering and informal exchanges between Les Extra-Vaillants MYT1L and The MYT1L Project Foundation
Health collaborations
Calls for applications for MYT1L FAMILIES study projects
CALL FOR APPLICATIONS - PRELIMINARIES TO THE DESCRIPTIVE STUDY PROJECT OF LANGUAGE DISORDERS, COGNITIVE DEVELOPMENT AND BEHAVIORAL DISORDERS IN MYT1L SYNDROME
This concerns the Valiants of FRANCE: CHILDREN, ADOLESCENTS, and ADULTS!
Study carried out in Rouen with travel support conditions,
BUT if you cannot travel and would like to participate, contact the association: extravaillants@gmail.com
For any information, contact the association.
We need collective mobilization! Better understanding means better support!
PARTICIPATION OF FAMILIES IN THE GENIDA PLATFORM IN ADDITION TO THE STUDY PROJECT
In French, in English, in Italian, in Spanish
As part of his descriptive study of language disorders, cognitive development and behavioral disorders in MYT1L syndrome, Dr. Coursimault, Rouen, France, encourages all MYT1L variant carriers - children, adolescents and adults - to participate in the GenIDA study >>> rdv on https://genida.unistra.fr/
As part of his descriptive study of language, cognitive development and behavioral disorders in MYT1L syndrome, Dr Coursimault, Rouen, France, is encouraging all careers of MYT1L variants - children, adolescents and adults - to take part in the GenIDA study >>> visit https://genida.unistra.fr/
In this study's description of language transmission, cognitive and behavioral problems in the MYT1L syndrome, Dr. Coursimault, from Rouen (France), led all MYT1L variant carriers - children, adolescents and adults - to participate in the GenIDA study >>> visit https://genida.unistra.fr/
After the studio's description of language disturbances, cognitive and behavioral problems in the MYT1L syndrome, the doctor Coursimault, in Rouen, France, includes all versions of the MYT1L variant - babies, adolescents and adults - to participate in the GenIDA studio >>> visit https://genida.unistra.fr/
HEIDELBERG, GERMANY JUNE 2025, MYT1L GENE MINI SYMPOSIUM
It was a great pleasure and honor for Les Extra-Vaillants MYT1L to take part in a dedicated mini-symposium on MYT1L syndrome on June 26th, during the 4th Triennial Meeting of the International Alliance of Academies of Childhood Disability (IAACD) and the 37th Annual Meeting of the European Academy of Childhood Disability (EACD), held in Heidelberg, Germany, from June 24th to 28th, 2025.
We were invited by the symposium chairs, Prof. Dr. Maja Hempel, Head of the Genetic Outpatient Clinic at University Hospital Heidelberg, Germany, and Dr. Moritz Mall, Research Group Leader at the Hector Institute for Translational Brain Research at the German Cancer Research Center, and joined by Dr. Juliette Coursimault, Clinical Geneticist at CHU Rouen.
We were also delighted to reconnect with Dr. Jorge Granadillo, Medical Geneticist at Washington University School of Medicine in St. Louis, USA, who had joined us just a few weeks earlier for the 2nd MYT1L Family–Clinician–Researcher Meeting held in early June 2025 in Rouen.
June 26th was a day rich in discussions, discoveries, and plans for collaboration.
We had the opportunity to meet the teams of Dr. Moritz Mall and Prof. Maja Hempel in their respective units at the Heidelberg Clinic. On the agenda: a tour of the genetics department and research laboratories, exchanges with the teams, discussions on potential projects, and a virtual meeting with several German families.
The day ended on a warm and friendly note over a shared meal.
Thank you for your hospitality and for these essential moments!
Long live collaboration and Franco-German friendship! 🇫🇷🇩🇪
It was also a great pleasure to attend the conference sessions in the following days and to witness the international medical community’s commitment to improving the lives of patients. Many thanks to the organizers for their kind invitation.
HEIDELBERG, GERMANY JUNE 2025 - MINI SYMPOSIUM MYT1L GENE
🔹 Program details of the MYT1L Mini-symposium chaired by Dr. Moritz Mall: Advancing Understanding and Care for MYT1L Syndrome: A Holistic Perspective
- Behavioral traits and multidisciplinary care for individuals with MYT1L syndrome
Juliette Coursimault, MD, Clinical Geneticist, Rouen University Hospital, France
- Insight into the molecular mechanisms and therapeutic options underlying MYT1L syndrome
using human stem cell models
Moritz Mall, PhD, Researcher, German Cancer Research Center (DKFZ), Germany
- Genetic testing, diagnosis, and possible drug treatments for MYT1L syndrome
Maja Hempel, MD, Clinical Geneticist, University Hospital Heidelberg, Germany
- Lived experiences and perspectives of families affected by MYT1L syndrome
Valérie Salomone, parent advocate, President, Les Extra-Vaillants MYT1L, France
More information : https://eacd-iaacd2025.org/
Collaboration with Dr. Moritz Mall teams
On February 14, 2023, Dr. Moritz Mall and his collaborators published:
"MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be reversed by genetic and pharmacologic intervention”.
This publication highlights the interesting effect of a molecule called Lamotrigine on the behavior of mice with an anomaly in the MYT1L gene. Please note, for this study, the therapeutic trials were carried out only in mice. There are still many steps to know if it could work in humans.
The existence of the drug on the market, its already effective use in neurology and psychiatry are important factors that will save time in the study projects of the passage from mouse to human in order to define the real effectiveness. , necessary dosage and side effects for MYT1L patients.
It is likely that a new study will soon see the light of day, led by the team of Dr Mall (Germany) We should know more by the summer (feasibility, schedule, cost, coordination with the geneticists of Rouen and the 'association...). This opportunity should accelerate the clinical study on the behavioral disorders we have been talking about since the beginning of our collaboration with Dr. Coursimault and Dr. Guerrot.
TO GO FURTHER
Dr. Moritz Mall, of theHector Institutefor Translational Brain Research (HITBR), has long studied the role of the protein MYT1L in various neuronal diseases. He had agreed to answer questions from Jonte's parents about MYT1L syndrome. You will find the link of thisinterview translated into French on the German family page(click on the underlined words).
Mr. Mall has been conducting basic research on the MYT1L gene since 2012 and has had his own research group in Heidelberg since 2018.
📣📍COMPLEMENTARY DRAFT DESCRIPTION OF EATING DISORDERS LINKED TO THE GENE MYT1L
🔸 We have the great pleasure of relaying the information of the geneticists Dr Coursimault and Dr Guerrot of the reference center for developmental anomalies and malformation syndromes of the University Hospital of Rouen, concerning the complementary project of description of eating disorders linked to the geneMYT1L, which is part of the follow-up to the clinical-biological study carried out in 2020.
🔸 This project is a collaboration between the reference center for developmental anomalies and malformation syndromes of the Rouen University Hospital, and two professors, Pr Poitou Bernert and Pr Dubern, endocrinologists specialized in genetic obesity in adults and children. , respectively, practicing at the Pitié Salpêtrière Hospital and at the Trousseau Hospital and belonging to the PRADORT Reference Center for Rare Diseases. 🔸
For the moment, this is a project that only targets patients with an eating disorder, ie an eating disorder, or overweight, or obesity.
🔸 To carry out this project, your genetic doctors will contact you to present the project to you. For children, these are questionnaires to be completed by parents. For adult patients, help from a nearby adult may be needed. Then, you will have to retransmit these completed questionnaires to your geneticist, who will be responsible for transmitting the data to the Rouen team.
📍📍 If you are not asked and your child is affected by this issue, do not hesitate to contact your geneticist, or contact us: extravaillants@gmail.com to provide you with a solution.
👍 Another step in favor of all the Valiants to better understand, improve trajectories!
👍 Thank you to the doctors who are mobilizing with us around the geneMYT1L.