Understanding heart defects in patients with a specific genetic condition
Official title: Investigation of Chromatin Modifiers to Elucidate the Phenotypic Variability of Congenital Heart Disease in Patients with 22q11.2 Deletion Syndrome
Funded at Albert Einstein College of Medicine · NIH-11074019 · Data updated 2026-11-12
This study is looking at how certain genes might affect heart problems in people with 22q11.2 deletion syndrome, hoping to find clues that could help improve treatments for different heart defects.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Albert Einstein College of Medicine NIH-funded |
| Lab location | 1 site (Bronx, United States) |
| Project start | January 16, 2024 |
| Project end | July 15, 2027 |
| Funding year | 2025 |
| Award (this year) | $53,974 |
| NIH project number | 5F30HL172604-02 |
| Project ID | NIH-11074019 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with 22q11.2 deletion syndrome, particularly those who also have congenital heart defects.
✕Less likely to help
Patients without 22q11.2 deletion syndrome or those who do not have congenital heart defects may not benefit from this research.
What this research studies
This research investigates the genetic factors that contribute to congenital heart disease (CHD) in individuals with 22q11.2 deletion syndrome. By analyzing the genomes of over 1,000 patients, the study aims to identify rare genetic variants that may influence the severity and variability of heart defects. The approach involves advanced sequencing techniques to uncover chromatin regulatory genes that could play a role in heart development. Patients with this genetic condition may have different heart defects, and understanding these differences could lead to better treatment options.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and management of congenital heart disease in patients with 22q11.2 deletion syndrome.
How similar studies have gone: Previous research has shown promise in identifying genetic modifiers of congenital heart disease, suggesting that this approach could yield valuable insights.
Where this research is happening
-
Albert Einstein College of Medicine
Bronx, United States Active
Researchers
- Principal investigator: Miller, Daniella — Albert Einstein College of Medicine
- Study coordinator: Miller, Daniella
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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.