Working together toward a cure
Areas of Current Research
Research into MYT1L syndrome is essential for improving our understanding and treatment options for this rare genetic condition. Ongoing studies by research teams throughout the world aim to uncover biological mechanisms, identify potential pharmacological treatments, develop cutting-edge gene-based therapies, and provide better support for individuals and families affected by MYT1L syndrome. The MYT1L Project is fostering close connections between families and researchers and developing a patient registry to support more comprehensive characterization of MYT1L Syndrome symptoms, how they differ among individuals, and how they change over the lifespan. The areas presented here represent the main categories of research conducted by others to-date.
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Mouse and Cell Line Studies
Mice and cell lines provide a critical foundation for understanding the impact of MYT1L gene differences on the brain, behavior, and development, and for testing potential pharmacologic and gene-based treatments.
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Antisense Oligonucleotide (ASO) Research
Ongoing ASO studies hold potential for identifying a small molecule that can "correct" MYT1L syndrome at the source.
Human Cohort Studies
In human cohort studies, researchers examine the characteristics of people with MYT1L syndrome to identify shared characteristics as well as variability in symptoms and severity. Human cohort studies can also help us to identify "best practices" for treating and educating individuals with MYT1L Syndrome.
Drug Screening Studies
Established mouse and cell lines enable scientists to test the effects of existing, approved medications on the symptoms of MYT1L syndrome.