The MYT1L Project Foundation, Inc.

The MYT1L Project is a parent-led, scientist-supported foundation established in 2025 to advance research into evidence-based interventions for MYT1L Neurodevelopmental Syndrome, a rare genetic condition marked by developmental disabilities, behavioral challenges, and obesity. Our mission is to foster collaboration between families, patients, and researchers to develop effective treatments that improve the quality of life for individuals and their families.

MYT1L Neurodevelopmental Syndrome is a rare neurodevelopmental disorder caused by loss of function of one copy of the patient’s two MYT1L genes due to a mutation, deletion or other change. 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. Many also exhibit autistic behaviors, epilepsy, an insatiable appetite often leading to obesity, and a need for lifelong support.

The MYT1L Project Foundation’s current research focus includes the development of an antisense oligonucleotide therapy (ASO) to upregulate the one “good” copy of MYT1L that all patients possess. Complementing this, we are launching a worldwide registry using NORD’s IAMRARE platform. This registry will improve our understanding of how loss of function of the MYT1L gene impacts people over the lifespan and how different mutation types correlate with different symptoms and severity in affected individuals. It will also serve as an important source of patients for recruitment into future studies, and will provide key baseline data to support future clinical trials.

Scientists estimate that pathological MYT1L gene mutations impact more than one in every 25,000 people, but the number who have been diagnosed much smaller. One of the goals of the MYT1L Project is to increase the rate of diagnosis so that more families can receive much needed support and access future research advances.