XIST gene-silencing to switch off the extra chromosome in Down syndrome
Down Syndrome: a potential treatment XISTs
A gene-silencing approach aims to turn off the extra chromosome 21 to help people with Down syndrome improve brain development and memory.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Beth Israel Deaconess Medical Center NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11396588 on NIH RePORTER |
What this research studies
Researchers are using a modified CRISPR method to place a silencing gene (XIST) specifically onto the extra copy of chromosome 21. They have shown the approach works in cells and will now test whether it can safely and effectively silence the extra chromosome in a mouse model that carries most human chromosome 21 genes. The team uses SNP-targeting to direct the treatment to a single chromosome copy and will measure brain structure and function outcomes in treated animals. Success in mice would be a step toward considering whether a similar approach could one day be adapted for people with Down syndrome.
Who could benefit from this research
Good fit: This project does not enroll patients; any future human trials would likely include people with Down syndrome who have cognitive impairment or early Alzheimer-like changes.
Not a fit: People without Down syndrome or those whose brain changes are long-established may not benefit from this approach.
Why it matters
Potential benefit: If successful, this could partially reverse neurological problems and improve cognition for people with Down syndrome.
How similar studies have performed: XIST-based silencing has shown rescue in cell models, but applying CRISPR-enhanced XIST in whole animals is novel and not yet proven in vivo.
Where this research is happening
Boston, United States
- Beth Israel Deaconess Medical Center — Boston, United States (Active)
Researchers
- Principal investigator: Sheen, Volney L — Beth Israel Deaconess Medical Center
- Study coordinator: Sheen, Volney L
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.