Why people with Down syndrome have a higher risk of Hirschsprung disease
Why do Down Syndrome patients have high risk of Hirschsprung disease?
Researchers are looking at genes on chromosome 21 and a gut-nerve gene called RET to understand why Hirschsprung disease happens more often in people with Down syndrome.
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-11370388 on NIH RePORTER |
What this research studies
This project will look into the genetic reasons why people with Down syndrome have a higher chance of Hirschsprung disease. Researchers will compare DNA from people with Down syndrome who do and do not have Hirschsprung disease and focus on a RET gene enhancer and chromosome 21 genes such as SOD1. They will also use stem cells made from patient cells (iPSCs) and mouse models with extra copies of chromosome 21 genes to see how these genes affect nerve-cell development in the colon. The aim is to connect specific gene changes and gene-dosage effects to the missing nerve cells that cause Hirschsprung disease.
Who could benefit from this research
Good fit: People with Down syndrome, especially those with or without a history of Hirschsprung disease who can provide DNA or blood samples, would be the ideal candidates.
Not a fit: People without Down syndrome or those seeking immediate medical treatment for Hirschsprung disease are unlikely to receive direct clinical benefit from participating in this research.
Why it matters
Potential benefit: If successful, this work could help identify children with Down syndrome who are at higher risk and point to new targets for prevention or treatment of Hirschsprung disease.
How similar studies have performed: Previous studies have linked RET enhancer variants to non-syndromic Hirschsprung disease and suggested gene-dosage effects, but combining human genetics, patient-derived stem cells, and mouse models in this way is relatively novel.
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.