Make known, Support, Inform, Engage, Collaborate.....
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.
PRH76: Departmental Thematic Day
EARLY CHILDHOOD AND DISABILITY
A day rich andynamisante with Norman actors around :
initial identifications and orientation towards the diagnosis
the diagnosis... and then?
Many useful resources for everyone
PADLET produced by PRH76
movie of the day : the themes are sequenced
the first identifications and the orientation towards the diagnosis
the identification actors
first level players
second level actors
the diagnosis... and then?
an example of interdepartmental partnership: towards simplifying the process?
common law resources at the service of families
support for parents and support for professionals, valuing parental knowledge and increasing the power to act
Click on the underlined words to access the resources (ONLY IN FRENCH)
1st day Families/Clinicians/Researchers around the MYT1L gene
November 25, 2022 - Rouen University Hospital
Highlighting the supports that made this incredible day possible
Financial donations, more than 6000 euros collected which have contributed in particular to bringing together and welcoming families in the same place in Rouen
Donations in kind for chocolate taste buds for young and old, toys for the treasure hunt of the children present, a warm and gourmet family drink, a salted butter caramel sweet to thank...
Gifts of skills to develop communication tools, to awaken to music, plastic arts and dance, to supervise children on D-Day...
IN THE END WE REACHED
90% OF THE OBJECTIVE
THANK YOU !
Thank you so much !
Together we are super too strong!💪😉🧡
📣📍COMPLEMENTARY DRAFT DESCRIPTION OF EATING DISORDERS LINKED TO THE GENEMYT1L
🔸 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: email@example.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.
Nathalie Engelmann, A horizon for Hélias
THANK YOU SO MUCH
😍 600 euros for our Vaillants 😍
THANK YOU for your incredible generosity! So precious for all Vaillants!
So happy to meet us, so grateful for the bond of heart that you have woven between Les Extra-Vaillants MYT1L and Un Horizon pour Hélias!
Lot of love and thank you again! Long live the Bretons and long live the salted butter caramel!⛵️🫂🤘👌👏 👏
"We're here because it's important to show that you can do lots of things when you have a disability...Even if it takes a little longer." Like more than 400 people, Valérie came with her daughter, carrier of a rare genetic disease, to participate in the "[extra]ordinary race" de Rouen _cc781905-5cde-3194-bb3b- 136bad5cf58d_(Normandy), this Wednesday, June 15, 2022. Article excerptFrance bleu Normandie