Reducing harmful effects of an extra chromosome in Down syndrome
Suppressing Aneuploidy-associated phenotypes in Down syndrome
Looking for ways to reduce cell and premature-aging damage caused by having an extra copy of chromosome 21 in people with Down syndrome.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of Massachusetts Med Sch Worcester NIH-funded |
| Lab location | 1 site (Worcester, United States) |
| Project ID | NIH-11363814 on NIH RePORTER |
What this research studies
This project studies how an extra chromosome 21 changes the shape and function of the cell nucleus and how those changes may drive symptoms of Down syndrome. Researchers will work with cells that carry trisomy 21 to map the biochemical pathways linking aneuploidy to nuclear defects. They will test interventions in these cell models to see if correcting nuclear problems can reduce markers of premature aging and dysfunction. The goal is to find targets that could eventually lead to therapies or tests relevant to people with Down syndrome.
Who could benefit from this research
Good fit: Ideal participants would be people with Down syndrome (or their caregivers) willing to provide consent for donation of blood or tissue samples for laboratory studies.
Not a fit: People who do not have trisomy 21 or whose health issues are unrelated to aneuploidy are unlikely to benefit from this specific work.
Why it matters
Potential benefit: If successful, this work could point to new treatments or biomarkers that reduce aging-related and other cellular problems in people with Down syndrome.
How similar studies have performed: Some prior research links nuclear shape defects to aging, but applying these insights specifically to Down syndrome and testing pathway-targeting approaches is relatively new.
Where this research is happening
Worcester, United States
- Univ of Massachusetts Med Sch Worcester — Worcester, United States (Active)
Researchers
- Principal investigator: Torres, Eduardo Martin — Univ of Massachusetts Med Sch Worcester
- Study coordinator: Torres, Eduardo Martin
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.