We are a newly formed association, made up of three families whose children have an ultra-rare disease linked to the MYT1L gene. We came together to raise awareness of this little-known genetic condition in Spain, where there is currently no interest in its study. Our goal is also to connect with more families and create a support network (currently 5 families are connected) and to support the research being conducted in France, Germany, and the USA. Thank you in advance :)
The MYT1L Project supports trailblazing work in the field of ASO research. Antisense oligonucleotide (ASO) therapy is a cutting-edge approach targeting the root cause of diseases by modifying how genes are expressed. ASOs work by downregulating harmful genes or upregulating deficient genes, offering a precise way to treat genetic conditions. MYT1L Syndrome is a well-defined condition resulting from loss of function of the MYT1L gene. All patients with MYT1L Syndrome have one "good" copy of the MYT1L gene, making it an ideal candidate for ASO therapy that targets upregulation of the healthy gene.
Publicat el
02/02/2026
Pàgine web:
https://www.myt1lproject.org/scientists-corner
Data de publicació
23/01/2026
Creat per
Asociación MYT1L Extravalientes
Tipus de Grup
ONG
Àmbit
Discapacitat
Famílies
Investigació
País
Espanya
Copia i enganxa
https://www.teaming.net/asociacionmyt1lextravalientes
Teaming Manager
02/02/2026 14:43 h
En estos momentos estamos preparando la presentación oficial de la Asociación en las redes sociales junto con nuestra primera campaña de donación. Así mismo, nos gustaría informar que todo el dinero que se recaude a través de este medio, va a ser destinado a la Fundación de EEUU "The MYT1L project" liderada por padres y madres y apoyada por científicos/as para impulsar la investigación de intervenciones basadas en la evidencia para el Síndrome del Neurodesarrollo MYT1L.
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