Investigating the link between Down syndrome and Hirschsprung disease
Why do Down Syndrome patients have high risk of Hirschsprung disease?
This study is looking into why people with Down syndrome are more likely to have Hirschsprung disease, which affects the colon, by examining the genes on chromosome 21, and it aims to help us understand both conditions better.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | New York University School of Medicine NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-10528177 on NIH RePORTER |
What this research studies
This research explores why individuals with Down syndrome have a significantly higher risk of developing Hirschsprung disease, a condition affecting the colon. The team will investigate genetic factors, particularly focusing on chromosome 21 and its influence on gene regulation. By utilizing advanced techniques such as engineered pluripotent stem cells and mouse models, the researchers aim to uncover the underlying mechanisms that connect these two conditions. This could lead to a better understanding of both Down syndrome and Hirschsprung disease.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with Down syndrome, particularly those who may also be experiencing symptoms of Hirschsprung disease.
Not a fit: Patients without Down syndrome or those who do not have Hirschsprung disease may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved screening and treatment options for patients with Down syndrome at risk for Hirschsprung disease.
How similar studies have performed: Previous research has shown promising results in understanding genetic links between conditions, suggesting that this approach may yield valuable insights.
Where this research is happening
New York, United States
- New York University School of Medicine — New York, United States (Active)
Researchers
- Principal investigator: Chakravarti, Aravinda — New York University School of Medicine
- Study coordinator: Chakravarti, Aravinda
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.