Our History

The MYT1L Project Foundation stands on the shoulders of decades of researchers who have studied the form and function of the MYT1L gene. Research into MYT1L started slowly but has gathered pace, especially in the last 10 years.

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Early research: 1990s-2000s

The MYT1L gene was first identified and characterized in the 1990s. Early research primarily focused on understanding its role in the nervous system, given its similarity to MYT1, a gene known to be involved in the development of the central nervous system (CNS). Initial studies suggested that MYT1L might play a role in the regulation of neural gene expression.

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As techniques in molecular biology and genetics advanced, researchers began to explore the specific functions of MYT1L more thoroughly. Studies revealed that MYT1L is involved in the differentiation of neural progenitor cells into mature neurons. It was found to act as a transcription factor, regulating the expression of various genes critical for neural development.

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​MYT1L Syndrome identified, Facebook group formed, and Jake's Mice established: 2010s

A breakthrough occurred in the 2010s, when mutations and deletions in the MYT1L gene were linked to neurodevelopmental disorders, marking the beginning of recognition of MYT1L-related syndrome. Several early studies identified individuals with MYT1L mutations, primarily deletions, who exhibited a range of symptoms, including intellectual disability, autism spectrum disorder (ASD), behavioral issues, and other developmental delays in addition to hyperphagia (feelings of extreme hunger) leading to obesity.

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Meanwhile, in 2014, a mom in Australia created a private family Facebook group to support individuals with genetic differences in the 2p25 region of chromosome 2. By 2015, the group had grown to approximately 10 members, most of whom had 2p25 differences that included the MYT1L gene. The group was later renamed The Original 2p25 / MYT1L Family Community to help those with a MYT1L syndrome diagnosis find it, and has (as of March 1, 2025) grown to include more than 335 families from across the globe. This families-only online group is a place where members can share, inform, support and seek support around the impact of variants/mutations, deletions and duplications of the MYT1L gene and other genetic differences in the 2p25 region of Chromosome 2. The group tapped into an international community of families with a MYT1L-related syndrome diagnosis looking for answers. Today, it is collectively supported by its founder and group admins from Germany, France, the U.S., the U.K. and Australia.

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As the 2020s approached, a family in St. Louis raised funds to spearhead studies into MYT1L following the diagnoses of their son, a teenager with MYT1L syndrome. Using cells donated by Jake, scientists at Washington University in St. Louis created a mouse model that has become known colloquially as “Jake’s mice.” Researchers employed CRISPR gene editing technology to induce an MYT1L mutation like Jake's in mice in order to observe the impact on brain development and function.

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Les Extra-Vaillants MYT1L, a larger cohort study, in-person gatherings and The MYT1L Project : 2020s

In the 2020s, research into MYT1L has progressed further in the use of model organisms, including mice and zebrafish, to study the functional consequences of MYT1L mutations. Independent research teams at Washington University and in Germany observed that the mice bred for a MYT1L loss-of-function variant have hyperactivity and obesity, in addition to other distinctive behavioral characteristics.​ Cell lines produced from Jake's cells additionally allowed scientists to test potential therapies. In 2020, the Washington University team received a $3.6 million NIH grant focused on MYT1L studies. Subsequent studies at Washington University, and at the Hector Institute for Translational Brain Research in Germany, have provided further insights into the molecular pathways and cellular processes disrupted by MYT1L dysfunction. Additional funding was received by the Washington University team from RTW Foundation to explore the use of antisense oligonucleotides (ASOs) as a potential therapeutic agent to up-regulate MYT1L gene function.

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Meanwhile in the 2020s, efforts accelerated to support and grow the MYT1L-difference community. In 2021, a French mom, Valérie Salomone, established the first MYT1L-focused association, Les Extra-Vaillants MYT1L. Through collaboration with Les Extra-Vaillants MYT1L, a doctoral student, Juliette Coursimault, focused her thesis work on the largest to-date cohort study of individuals with MYT1L deletions, variants, and duplications. Dr. Coursimault's pivotal publication in 2022 offered a more complete characterization of individuals impacted by MYT1L differences. The collaboration between Dr. Coursimault and colleagues and Les Extra-Vaillants MYT1L led to the world’s first in-person, family-researcher day in Rouen, France in November 2022, bringing together families from the United States, United Kingdom and France to connect and learn.

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In October 2024, families who had met on the Original 2p25 / MYT1L Family Community Facebook page, together with researchers at Washington University in St. Louis, organized the first U.S.-based in-person gathering focused on MYT1L Syndrome. At the meeting, parents received updates from Drs. Kroll, Maloney, Dougherty, and their teams on work using mice, cell lines, and groundbreaking antisense oligonucleotide (ASO) research. They collectively recognized the need to establish a nonprofit organization to fund research, enhance support for families, and coordinate future annual parent-researcher gatherings.

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These are the parents who founded The MYT1L Project Foundation in 2025, built on a foundation of international research and collaboration. Our private Facebook community is now growing at a pace of multiple new families each week, suggesting that MYT1L Syndrome, while rare, is far more prevalent than previously realized. By coming together, pooling resources and increasing shared knowledge of MYT1L and its effects, The MYT1L Project is creating change not achievable by any of us alone. Together, we are dedicated to supporting families and catalyzing research toward improved treatments and, ultimately, a cure.