Investigating the role of a specific protein in heart development and disease
Role of RNA-binding protein DDX3X in heart development and disease
['FUNDING_R01'] · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · NIH-10944661
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
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI (nih funded) |
| Locations | 1 site (NEW YORK, UNITED STATES) |
| Trial ID | NIH-10944661 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: Ideal candidates for participation or benefit include individuals with DDX3X mutations or related cardiac conditions.
Not a fit: Patients without any genetic mutations related to DDX3X or those not affected by cardiac conditions may not receive benefits from 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 performed: 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
NEW YORK, UNITED STATES
- 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 below.
Conditions: Autistic Disorder, Cardiac Diseases, Cardiac Disorders