Understanding the role of MYT1L mutations in autism and intellectual disabilities
Genomic and functional characterization of ASD and ID-associated MYT1L mutation
This study is looking at how changes in a specific gene called MYT1L might be connected to autism and intellectual disabilities, using mice and human cells to understand how these changes affect brain cells, with the hope of finding ways to help those who are impacted.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project ID | NIH-10977077 on NIH RePORTER |
What this research studies
This research investigates the genetic mutations in the MYT1L gene that are linked to Autism Spectrum Disorder (ASD) and Intellectual Disabilities (ID). By using advanced techniques, including mouse models and human stem cells, the study aims to explore how these mutations affect neural cells and brain circuits. The goal is to uncover the biological mechanisms behind MYT1L mutations, which could lead to targeted interventions for affected individuals. The research will also assess the potential reversibility of the effects caused by these mutations.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with Autism Spectrum Disorder or Intellectual Disabilities who have mutations in the MYT1L gene.
Not a fit: Patients without MYT1L mutations or those with other forms of autism or intellectual disabilities may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for individuals with ASD and intellectual disabilities associated with MYT1L mutations.
How similar studies have performed: While research on MYT1L is relatively novel, similar genetic investigations have shown promise in understanding other ASD-related genes and their impacts.
Where this research is happening
Saint Louis, United States
- Washington University — Saint Louis, United States (Active)
Researchers
- Principal investigator: Kroll, Kristen L — Washington University
- Study coordinator: Kroll, Kristen L
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.