Understanding heart defects in patients with a specific genetic condition
Investigation of Chromatin Modifiers to Elucidate the Phenotypic Variability of Congenital Heart Disease in Patients with 22q11.2 Deletion Syndrome
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 ID | NIH-11074019 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with 22q11.2 deletion syndrome, particularly those who also have congenital heart defects.
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 disease in patients with 22q11.2 deletion syndrome.
How similar studies have performed: 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
Bronx, United States
- Albert Einstein College of Medicine — Bronx, United States (Active)
Researchers
- Principal investigator: Miller, Daniella — Albert Einstein College of Medicine
- Study coordinator: Miller, Daniella
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.