Medical collaborations & Calls for collaboration
Make known, Support, Inform, Engage, Collaborate.....
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/
Conferences June 6, 2025
Hotel and childcare in Rouen - Closed
EVENT ROUEN JUNE 5, 6 & 7, 2025
2ND FAMILIES, CLINICIANS AND RESEARCHERS DAY ON THE MYT1L GENE
REGISTRATION IS OPEN!
FREE CONFERENCES, OPEN TO ALL - REGISTRATION REQUIRED
FACE-TO-FACE AND VIDEOCONFERENCE - FRENCH/ENGLISH SIMULTANEOUS
Program (full details in images and in english)
June 5, 2pm to 5pm: informal family/doctor meetings
June 6, 9:30am to 5pm: conferences/workshops on Vaillants and siblings
June 7 from 10am to 3pm: Family Day
The days of June 5 and 7, as well as childcare on the day of the conferences, are strictly reserved for families.
HOW TO REGISTER?
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CONFERENCE DAY on June 6, 2025
Register on the Anddi- Rares health network link (face-to-face or videoconference, registration required for both) => Link: https://www.linscription.com/pro/activite.php?P1=190052
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DAYS on June 5 and 7, 25 + HOTEL NIGHTS + Vaillants/fratries workshops on the day of the conferences
To register, please contact Les Extra-Vaillants MYT1L. Questionnaire (click on the underlined word) to be completed and returned to: extravaillants@gmail.com (same e-mail address for all requests)
Please note: all definitive registrations are binding. If you wish to cancel, except in cases of force majeure, you will be charged for the costs incurred.
A HUGE THANK YOU to the professionals who will honor us with their presence.
A HUGE THANK YOU to the Centre de Référence des anomalies du développement du CHU de Rouen, in particular Dr Juliette Coursimault, and to the AnDDI-Rares health network for their trust and support.
A HUGE THANK YOU to the Faculty of Medicine for opening their facilities to us, which will be great for all ages.
Hôtel et accueil enfants sur Rouen - CLOS
HEIDELBERG, GERMANY JUNE 2025 - MINI SYMPOSIUM MYT1L GENE
It's a great pleasure and honour for Les Extra-Vaillants MYT1L to be part of a dedicated Mini-symposium on MYT1L syndrome 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) in Heidelberg, Germany, from June 24th to 28th, 2025.
Together with the chairs, Prof. Dr. Maja Hempel, Head of Genetic Outpatient Clinic, University Hospital Heidelberg, Germany, and Dr. Moritz Mall, research group leader, Hector Institute for Translational Brain Research at the German Cancer Research Center, we will be presenting along with Dr. Juliette Coursimault, clinical geneticist, CHU Rouen, to take part in a symposium on the role of MYT1L in health and disease at these EACD and IAACD events.
Huge gratitude to Dr Moritz Mall for his support and this incredible opportunity to promote awareness and discuss future directions for MYT1L Syndrome at this world-leading conference focused on childhood-onset disabilities.
🔹 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.