Understanding how extra chromosomes affect health in Down syndrome
Suppressing Aneuploidy-associated phenotypes in Down syndrome
This study is looking at how having an extra chromosome affects people with Down syndrome, especially how it impacts their cells and overall health, with the hope of finding new ways to help improve their well-being.
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-10536927 on NIH RePORTER |
What this research studies
This research investigates the impact of an abnormal number of chromosomes, known as aneuploidy, on individuals with Down syndrome. It aims to uncover how aneuploidy disrupts cellular functions, particularly focusing on the nucleus of cells, which may contribute to health issues such as cognitive disabilities and increased risks for certain diseases. By identifying the mechanisms behind these effects, the research seeks to find ways to mitigate the negative health impacts associated with Down syndrome. Patients may benefit from insights that could lead to new treatments or interventions.
Who could benefit from this research
Good fit: Ideal candidates for this research are adults with Down syndrome who may experience health complications related to aneuploidy.
Not a fit: Patients without Down syndrome or those who do not exhibit aneuploidy-related health issues may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved health outcomes and quality of life for individuals with Down syndrome.
How similar studies have performed: While the specific approach of targeting aneuploidy in Down syndrome is novel, related research has shown promise in understanding the effects of chromosomal abnormalities on health.
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.