Understanding genetic factors affecting heart defects in a specific genetic syndrome
Genetic modifiers of congenital heart disease in 22q11.2 deletion syndrome
This study is looking at how genes might affect heart problems in kids with 22q11.2 deletion syndrome, which happens in about 1 in 4000 births, to help understand why some kids have more serious heart issues than others.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Albert Einstein College of Medicine NIH-funded |
| Lab location | 1 site (Bronx, United States) |
| Project ID | NIH-11023067 on NIH RePORTER |
What this research studies
This research investigates the genetic factors that influence congenital heart disease (CHD) in patients with 22q11.2 deletion syndrome, a condition that affects 1 in 4000 live births. By analyzing genetic data from both human subjects and animal models, the study aims to identify genetic modifiers that contribute to the variability in heart defects observed in these patients. Approximately 60% of individuals with this syndrome experience heart issues, which can range from mild to severe, often requiring surgical intervention. The research utilizes whole genome sequencing to explore the genetic landscape and its impact on heart development.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with 22q11.2 deletion syndrome, particularly those experiencing congenital heart disease.
Not a fit: Patients without 22q11.2 deletion 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 improved understanding and management of congenital heart defects in patients with 22q11.2 deletion syndrome.
How similar studies have performed: Previous research has successfully identified genetic modifiers in other congenital conditions, suggesting potential for similar breakthroughs in this area.
Where this research is happening
Bronx, United States
- Albert Einstein College of Medicine — Bronx, United States (Active)
Researchers
- Principal investigator: Morrow, Bernice E — Albert Einstein College of Medicine
- Study coordinator: Morrow, Bernice E
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.