Investigating the role of a specific protein in heart development and disease
Official title: Role of RNA-binding protein DDX3X in heart development and disease
Funded at Icahn School of Medicine at Mount Sinai · NIH-10944661 · Data updated 2026-11-12
This study is looking at how a protein called DDX3X affects heart development and can cause heart problems when it has mutations, and it aims to help patients with these conditions by uncovering important details about how our genes work during early development.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | July 1, 2024 |
| Project end | June 30, 2028 |
| Funding year | 2024 |
| Award (this year) | $736,574 |
| NIH project number | 1R01HL175488-01 |
| Project ID | NIH-10944661 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for participation or benefit include individuals with DDX3X mutations or related cardiac conditions.
✕Less likely to help
Patients without any genetic mutations related to DDX3X or those not affected by cardiac conditions may not receive benefits from this research.
What this research studies
This research focuses on understanding how the RNA-binding protein DDX3X influences heart development and related diseases. By examining the mechanisms of alternative splicing and RNA regulation, the study aims to uncover how mutations in DDX3X can lead to cardiac defects and other health issues. The research employs advanced techniques to manipulate and study RNA during early development, which could provide insights into complex biological processes. Patients with conditions related to DDX3X mutations may benefit from the findings of this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for heart diseases associated with DDX3X mutations.
How similar studies have gone: Other research has shown promise in understanding RNA-binding proteins and their roles in disease, suggesting that this approach could yield valuable insights.
Where this research is happening
-
Icahn School of Medicine at Mount Sinai
New York, United States Active
Researchers
- Principal investigator: Dubois, Nicole — Icahn School of Medicine at Mount Sinai
- Study coordinator: Dubois, Nicole
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.