How a gene linked to autism changes the brain
Functional Studies of NDD Gene(s)
Researchers will use mice with a human-linked gene mutation to learn how that gene changes brain cells, brain structure, and behavior relevant to autism and related conditions.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Alabama at Birmingham NIH-funded |
| Lab location | 1 site (Birmingham, United States) |
| Project ID | NIH-11258527 on NIH RePORTER |
What this research studies
This project uses mice engineered to carry a gene mutation that has been tied to autism, intellectual disability, and schizophrenia. Scientists will profile brain cells at three key developmental time points using single-nucleus RNA and chromatin sequencing, and will compare those molecular maps across two brain regions. They will also image brain structure with MRI, examine neuron shape, test behavior for learning, social interaction, and repetitive actions, and record electrical activity in select brain areas. Together these approaches aim to link the gene change to specific brain and behavioral effects that relate to symptoms people experience.
Who could benefit from this research
Good fit: People with autism spectrum disorder, intellectual disability, or known mutations in the specific gene studied would be most relevant for future translational follow-up or clinical studies.
Not a fit: Individuals without autism or without mutations in the gene of interest are unlikely to see direct short-term benefit from this mouse-focused research.
Why it matters
Potential benefit: If successful, this work could reveal biological steps from gene change to brain and behavioral differences, pointing to targets for future diagnostics or treatments.
How similar studies have performed: Previous mouse-model work has connected single-gene mutations to brain and behavioral changes, but combining multiome single-nucleus sequencing with MRI and electrophysiology for this particular gene is relatively new.
Where this research is happening
Birmingham, United States
- University of Alabama at Birmingham — Birmingham, United States (Active)
Researchers
- Principal investigator: Powell, Craig M — University of Alabama at Birmingham
- Study coordinator: Powell, Craig M
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.