How changes in the TBR1 gene relate to autism
Characterizing patient-specific TBR1 mutations: Understanding a master regulator of autism risk
Researchers are using mouse models that carry the same TBR1 gene changes found in some people with autism to learn how those changes alter brain development and wiring.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Oregon Health & Science University NIH-funded |
| Lab location | 1 site (Portland, United States) |
| Project ID | NIH-11297190 on NIH RePORTER |
What this research studies
This project creates mouse lines that mimic three types of TBR1 mutations seen in patients and compares their brains to each other and to a full-gene deletion model. Scientists examine developing neurons, brain circuits, and axon bundle structure to identify shared and mutation-specific effects. The team links molecular and cellular changes to circuit-level differences that may underlie behavioral features relevant to autism. Findings aim to clarify how TBR1 acts as a key regulator during midfetal brain development.
Who could benefit from this research
Good fit: People with autism who have a known TBR1 mutation, or families seeking information about TBR1-related genetic findings, are most directly relevant to this research.
Not a fit: People with autism who do not carry TBR1 mutations or whose condition has a different genetic cause are unlikely to see direct benefits from this specific work.
Why it matters
Potential benefit: If successful, this work could point to biological pathways and potential targets that guide future diagnostics or therapies for people whose autism involves TBR1 mutations.
How similar studies have performed: Other laboratories have used patient-based mouse models of autism risk genes to reveal circuit and developmental changes, though translating those findings into treatments has been limited so far.
Where this research is happening
Portland, United States
- Oregon Health & Science University — Portland, United States (Active)
Researchers
- Principal investigator: O'roak, Brian James — Oregon Health & Science University
- Study coordinator: O'roak, Brian James
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.