How the ASH1L gene affects brain development in autism
ASH1L mediated transcription networks in autism spectrum disorders
This work explains how changes in the ASH1L gene alter brain cell growth and connections in people with autism to help guide future treatments.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Brown University NIH-funded |
| Lab location | 1 site (Providence, United States) |
| Project ID | NIH-11239808 on NIH RePORTER |
What this research studies
From my perspective as someone affected by autism, the team is tracing how the ASH1L gene controls which genes are turned on or off during brain development. They use both human-related systems and mouse models, plus genomic tools (like ATAC-seq) to map chromatin and transcription patterns in neurons. The researchers focus on how ASH1L interacts with other gene regulators to shape synapses and neuron shape, looking for shared pathways behind different autism risk genes. Their mixed human-and-animal approach aims to connect molecular changes to the kinds of brain cell and circuit problems that relate to autism traits.
Who could benefit from this research
Good fit: People with autism who carry ASH1L mutations or related genetic risk variants, or individuals willing to contribute biological samples, would be the most relevant participants.
Not a fit: Patients without ASH1L-related genetic changes or those seeking immediate clinical treatments are unlikely to receive direct benefit from this basic mechanistic research.
Why it matters
Potential benefit: If successful, this work could uncover molecular targets and pathways that lead to new therapies or tests for autism linked to ASH1L.
How similar studies have performed: Genetic studies have previously linked ASH1L to autism, but the detailed molecular and transcriptional pathways targeted here remain relatively new and are still being established.
Where this research is happening
Providence, United States
- Brown University — Providence, United States (Active)
Researchers
- Principal investigator: Lizarraga, Sofia Beatriz — Brown University
- Study coordinator: Lizarraga, Sofia Beatriz
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.