Investigating genetic factors linked to heart defects in children with Down Syndrome
Rare variants associated with AVSD in Down Syndrome
This study is looking at the genes that might cause atrioventricular septal defects (AVSD), a heart problem that often affects babies with Down Syndrome, to help find better ways to prevent and treat this condition.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Emory University NIH-funded |
| Lab location | 1 site (Atlanta, United States) |
| Project ID | NIH-10900433 on NIH RePORTER |
What this research studies
This research focuses on understanding the genetic factors that contribute to atrioventricular septal defects (AVSD), a serious congenital heart defect that is more common in infants with Down Syndrome. By analyzing genetic variations, the study aims to identify specific genes that may increase the risk of AVSD in this population. The research will involve genetic testing and analysis of patients to uncover the underlying mechanisms that lead to these heart defects. Ultimately, the goal is to improve prevention and treatment strategies for affected infants and children.
Who could benefit from this research
Good fit: Ideal candidates for this research include infants and children diagnosed with Down Syndrome, particularly those with or at risk for atrioventricular septal defects.
Not a fit: Patients without Down Syndrome or those who do not have congenital heart defects may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better prevention and treatment options for congenital heart defects in children with Down Syndrome.
How similar studies have performed: Previous research has shown promising results in identifying genetic factors associated with congenital heart defects, suggesting that this approach could yield valuable insights.
Where this research is happening
Atlanta, United States
- Emory University — Atlanta, United States (Active)
Researchers
- Principal investigator: Feldman, Elizabeth — Emory University
- Study coordinator: Feldman, Elizabeth
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.