The MYT1L Project supports trailblazing work in the field of rare disease ASO research.
Antisense oligonucleotide (ASO) therapy is a cutting-edge approach that targets the root genetic cause of diseases by modifying how genes are expressed. ASOs work by blocking or down-regulating the expression of harmful genes, or up-regulating the expression of deficient genes, offering a precise way to treat genetic disorders. The specific ASO approach being studied for MYT1L Syndrome is novel, and success of our research could have far-reaching consequences for other rare genetic disorders. Please see Areas of Current Research for details.
We are advancing research into MYT1L while paving the way for other rare diseases.
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MYT1L Syndrome is a well-defined condition that results from loss-of-function of the MYT1L gene.
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All patients with MYT1L Syndrome have one "good" copy of the MYT1L gene, making it an ideal candidate for ASO therapy that targets up-regulation of the healthy gene.
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There is an unmet medical need and the potential for a breakthrough treatment for MYT1L patients.
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ASO studies are underway. The MYT1L Project Foundation is partnered with researchers, families and industry leaders and ready to put donor dollars to the best use. We need your support to ensure this vital research continues!
What is MYT1L Neurodevelopmental Syndrome?
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The MYT1L gene is crucial for the proper formation and function of the nervous system.
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MYT1L Syndrome is caused by loss of function of one copy of the patient's two MYT1L genes due to a mutation, deletion or other change.
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MYT1L gene changes occur before or during conception, and are not caused by anything a parent did or did not do during pregnancy.
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While symptoms and severity can vary greatly from individual to individual, MYT1L Syndrome can cause severe cognitive impairment, extreme emotional dysregulation, autistic behaviors, epilepsy, an insatiable appetite leading to obesity, and a need for lifelong support.
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We are dedicated to promoting awareness of the daily challenges faced by children and adults with MYT1L gene alterations and working steadfastly to support families and fund the research required for future lifechanging treatments.
2025 Family-Scientist Collaborative Meeting
Hosted by The MYT1L Project
Washington University, St. Louis, Missouri
October 2025
You are not alone.
Has your child recently been diagnosed with MYT1L Neurodevelopmental Syndrome? Or perhaps your family has been living with this diagnosis for some time. We know it can feel overwhelming — especially when information is hard to find.
You’ve come to the right place. At The MYT1L Project, we truly understand what you’re going through, because we’ve been there, too. As parents of children with MYT1L, we’ve navigated the challenges of health care systems, therapies, and schools.
Here, you’ll find a community ready to support you. By sharing our experiences and working together, we can empower one another and advance research to improve the lives of our children and families.
First Ever Family-Scientist Collaborative Meeting
Washington University, St. Louis, Missouri
October 2024
