How brain immune cells (microglia) affect development in Down syndrome
Microglial contribution to Down Syndrome Neuropathology
This research explores whether brain immune cells called microglia act differently in children and young adults with Down syndrome and how that might affect thinking and development.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Diego NIH-funded |
| Lab location | 1 site (La Jolla, United States) |
| Project ID | NIH-11257718 on NIH RePORTER |
What this research studies
Researchers will grow mini human brain tissues (organoids) that include microglia and use a special mouse model in which most microglia are human to study changes caused by the extra chromosome 21. They will measure gene activity and chromatin accessibility in microglia using sequencing methods and link those molecular changes to cell function and behavior in the models. The team will test whether correcting microglial dysfunction can improve neuronal development in these laboratory and mouse systems.
Who could benefit from this research
Good fit: Ideal candidates are children and young adults with Down syndrome or families willing to provide biological samples for research at the study site.
Not a fit: People without Down syndrome or those seeking an immediate clinical therapy are unlikely to receive direct benefit from this laboratory-focused work.
Why it matters
Potential benefit: If successful, this work could point to new targets for therapies that improve brain development and cognitive outcomes in people with Down syndrome.
How similar studies have performed: Prior studies have linked microglia to brain development and to other neurological conditions, but applying humanized microglia organoids and chimeric mouse models to Down syndrome is relatively new.
Where this research is happening
La Jolla, United States
- University of California, San Diego — La Jolla, United States (Active)
Researchers
- Principal investigator: Coufal, Nicole Gabriele — University of California, San Diego
- Study coordinator: Coufal, Nicole Gabriele
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.