Identifying genetic risks in a severe heart condition affecting infants
Integration of RNA and Genome Sequences to Identify Genetic Risk in Hypoplastic Left Heart Syndrome
This study is looking into the genetic causes of Hypoplastic Left Heart Syndrome (HLHS) to help improve diagnosis and treatment options for patients with this heart condition.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-10880257 on NIH RePORTER |
What this research studies
This research investigates Hypoplastic Left Heart Syndrome (HLHS), a serious congenital heart defect where the left ventricle is underdeveloped. The study aims to uncover genetic factors contributing to HLHS by analyzing RNA and genome sequences from affected patients. By employing machine learning techniques, researchers will explore how specific genetic variants may influence heart development and function. The goal is to enhance diagnostic capabilities and potentially guide targeted treatments for patients with HLHS.
Who could benefit from this research
Good fit: Ideal candidates for this research include infants diagnosed with Hypoplastic Left Heart Syndrome, particularly those with unexplained cases.
Not a fit: Patients with HLHS who have already identified genetic causes or those with other unrelated congenital heart defects may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and personalized treatment options for infants with Hypoplastic Left Heart Syndrome.
How similar studies have performed: Previous research has shown promise in identifying genetic contributors to congenital heart defects using similar genomic approaches, indicating potential for success in this area.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Morton, Sarah — Boston Children's Hospital
- Study coordinator: Morton, Sarah
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.