Thalamus-to-cortex wiring problems in psychiatric and developmental conditions
Neurodevelopmental defects of the thalamocortical pathway as a convergent feature of psychiatric disorders
This project uses human stem-cell models to look at how early wiring between the thalamus and cortex can go wrong in people with 22q11.2 deletion, autism, or ADHD.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Francisco NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project ID | NIH-11256718 on NIH RePORTER |
What this research studies
Researchers grow human stem cells into early thalamus and cortical cell types in the lab to recreate how these brain regions connect during development. They compare cells made from people with 22q11.2 deletions or neurodevelopmental diagnoses (like autism or ADHD) to cells from typical controls to see how genetic differences change cell identity and connectivity. The team uses improved lab protocols that better mimic early human thalamocortical development, since this wiring differs from mice. By tracing molecular and cellular steps of early wiring, they aim to pinpoint where and how development goes off track.
Who could benefit from this research
Good fit: Ideal participants would be people with 22q11.2 deletion syndrome or a diagnosis of autism or ADHD (and healthy volunteers) who can provide a blood or skin sample for making stem cells.
Not a fit: People seeking immediate clinical treatments or those unwilling or unable to provide biological samples are unlikely to benefit directly from this lab-focused research.
Why it matters
Potential benefit: If successful, this work could explain why early brain wiring fails in these conditions and point to molecular targets for future diagnostics or treatments.
How similar studies have performed: Patient-derived stem-cell studies have revealed disease mechanisms in other neurodevelopmental disorders, but modeling early human thalamocortical wiring is relatively new and less established.
Where this research is happening
San Francisco, United States
- University of California, San Francisco — San Francisco, United States (Active)
Researchers
- Principal investigator: Nowakowski, Tomasz — University of California, San Francisco
- Study coordinator: Nowakowski, Tomasz
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.