Identifying genes that increase the risk of Hirschsprung disease
Computational identification of Hirschsprung disease susceptibility genes
This study is looking at the genes that might cause Hirschsprung disease in kids, hoping to find out more about what leads to this condition so that we can better help families affected by it in the future.
Quick facts
| Grant type | R03 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-10952314 on NIH RePORTER |
What this research studies
This research focuses on understanding the genetic factors that contribute to Hirschsprung disease, a condition affecting the intestines in young children. By analyzing genetic data from affected individuals and their relatives, the study aims to identify specific genes and genetic variants associated with the disease. The approach involves advanced sequencing techniques to detect various types of genetic changes, which may help clarify the underlying causes of Hirschsprung disease and its related conditions. This research could lead to better understanding and potential future interventions for those at risk.
Who could benefit from this research
Good fit: Ideal candidates for this research include children under 11 years old who have a first-degree relative with Hirschsprung disease.
Not a fit: Patients who do not have a family history of Hirschsprung disease or are over the age of 11 may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved genetic screening and risk assessment for Hirschsprung disease in children.
How similar studies have performed: Previous research has successfully identified genetic factors in similar congenital 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: Chatterjee, Sumantra — New York University School of Medicine
- Study coordinator: Chatterjee, Sumantra
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.