Protocadherin gene changes and brain wiring in autism
The impact of loss of function DNA sequence variants in the human protocadherin gene cluster on neural circuit assembly.
This project looks at how small changes in protocadherin genes might change how brain cells connect in people with autism.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11398916 on NIH RePORTER |
What this research studies
Researchers will study small DNA changes in a group of genes called protocadherins that give neurons a unique surface identity. They will analyze human genetic data to find rare loss-of-function variants and test those specific variants in lab-grown cells and animal models to see how the proteins work. The team will examine how altered protocadherin proteins affect neuronal connections, self-avoidance, and circuit assembly and compare those effects to patterns linked with autism. Findings aim to connect specific genetic changes to wiring differences that could underlie autism-related traits.
Who could benefit from this research
Good fit: People with autism, especially those who carry rare changes in protocadherin genes or who are willing to provide DNA samples, would be the best match for following or contributing to this work.
Not a fit: People without protocadherin-related genetic changes or those seeking immediate clinical treatment are unlikely to receive direct benefit from this research.
Why it matters
Potential benefit: If successful, this work could clarify how certain genetic changes contribute to autism and point to new targets for diagnostics or future treatments.
How similar studies have performed: Previous studies in cells and mice have shown protocadherins shape neuronal wiring, but clear links to human autism remain unproven, so this builds on promising animal and cell work.
Where this research is happening
New York, United States
- Columbia University Health Sciences — New York, United States (Active)
Researchers
- Principal investigator: Maniatis, Thomas P — Columbia University Health Sciences
- Study coordinator: Maniatis, Thomas P
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.