Understanding the DDX3X 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-11123336
This work explores how a protein called DDX3X helps shape the heart and how problems with it might lead to heart conditions and other health challenges.
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-11123336 on ClinicalTrials.gov |
What this research studies
Our bodies have about 20,000 genes, but they create much more variety through processes like alternative splicing, which changes how genetic instructions are read. This project focuses on RNA-binding proteins, which are key players in these processes, especially during the complex stages of cell and organ formation. We are particularly interested in the X-linked protein DDX3X, because changes in this protein are linked to DDX3X Syndrome, which includes intellectual disability and can affect heart health. By learning more about DDX3X's role in heart development, we hope to uncover new insights into these conditions.
Who could benefit from this research
Good fit: This foundational research is not directly recruiting patients but aims to help those affected by DDX3X Syndrome, cardiac diseases, or related developmental disorders in the future.
Not a fit: Patients not affected by DDX3X Syndrome or related cardiac developmental issues may not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to a better understanding of the causes of DDX3X Syndrome and related heart conditions, potentially guiding future treatments or interventions.
How similar studies have performed: While the importance of RNA regulation is recognized, much less is known compared to gene regulation, making this a novel approach to fill a critical knowledge gap.
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