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.
There is an unmet medical need and the potential for a breakthrough treatment for MYT1L patients. Watch our video and visit our Scientists' Corner to learn more!
We are advancing MYT1L research while paving the way for other rare diseases.
ASO studies for MYT1L are underway. Some of the specific ASO approaches being studied for MYT1L Syndrome are novel, and success of our research could have far-reaching consequences for other rare genetic disorders.
The MYT1L Project is partnered with researchers, families and industry leaders and ready to put donor dollars to their 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 or after birth.
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While symptoms and severity can vary greatly from individual to individual, most people with MYT1L Syndrome experience significant learning issues and problems with emotional dysregulation, and many exhibit autistic behaviors, epilepsy, an insatiable appetite often 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 changes 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 loved one been recently diagnosed with MYT1L Neurodevelopmental Syndrome? Or perhaps your family has been living with this diagnosis for some time before finding this community. We know it can feel overwhelming — especially when information is hard to find. But we want you to know two things: You are not alone! And you have come to the right place.
At The MYT1L Project, we are a group of committed parents who truly understand what you’re going through — because we’ve been there. As parents of children and adults with MYT1L, we’ve navigated the challenges of health care systems, therapies, and schools. We understand the unique challenges of a rare condition that others — even medical professionals — often do not understand well.
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
