What are ASOs and why do they matter?

Antisense oligonucleotides, or ASOs, are small molecules that can either up-regulate or down-regulate genes. They do this by binding to specific locations on RNA within a person's cells.

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In MYT1L Neurodevelopmental Syndrome, where symptoms are believed to result from loss function of the MYT1L gene, the goal of ASOs is to up-regulate MYT1L. Every human with MYT1L syndrome has one “good” copy of the MYT1L gene and one copy that is impaired. This makes MYT1L syndrome a perfect model for a treatment of this kind. Because we are targeting the good copy of the gene and not a person's specific mutation, one effective ASO could help many people with MYT1L Syndrome - even those with very different mutations in the affected copy of the gene.

 

Creating an effective treatment begins with testing multiple specific ASO "sequences" to identify which of them have the effect of upregulating MYT1L. The cost of this testing is proportionate to the number of sequences tested. The more sequences tested, the more quickly we can identify those that are effective. From among many hundreds of possible sequences, about 200 have been identified as most likely to be successful. It costs approximately $75,000 to test 80 ASOs. Once a promising ASO is identified, additional testing will be needed to ensure its effectiveness and safety before it can be tested in humans.

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Through your donation and others, The MYT1L Project will be able to  accelerate this research to get much-needed treatments to families sooner. But it doesn't stop there! A successful ASO for MYT1L upregulation could become a model for other rare genetic disorders. By supporting MYT1L ASO development, you are also helping to advance the field of rare disease research. Your donation will also support other MYT1L Project initiatives, including the development of an international family registry to support research and activities that unite and support families in need.

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Every dollar brings hope to families in need. Won't you consider joining our cause today?​