Understanding how an extra chromosome affects heart development in Down Syndrome
Trisomy 21 and its impact on hedgehog-dependent gene regulation and differentiation timing
This study looks at how having an extra chromosome 21 affects heart development in people with Down Syndrome, especially focusing on certain heart defects, to help us understand why these issues happen and how we can improve care for those affected.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Chicago NIH-funded |
| Lab location | 1 site (Chicago, United States) |
| Project ID | NIH-11090045 on NIH RePORTER |
What this research studies
This research investigates the impact of an extra copy of chromosome 21 on heart development in individuals with Down Syndrome. It focuses on how this genetic change leads to specific heart defects, particularly affecting the posterior structures more than the anterior ones. By studying the molecular mechanisms involved, the research aims to identify critical signaling pathways, such as Hedgehog signaling, that regulate the timing and differentiation of heart progenitor cells. This could provide insights into the organ-specific defects observed in Down Syndrome patients.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with Down Syndrome, particularly those experiencing congenital heart defects.
Not a fit: Patients without Down Syndrome or those not affected by congenital heart defects may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and potential interventions for heart defects associated with Down Syndrome.
How similar studies have performed: Previous research has shown promising results in understanding genetic influences on heart development, making this approach both relevant and potentially impactful.
Where this research is happening
Chicago, United States
- University of Chicago — Chicago, United States (Active)
Researchers
- Principal investigator: Moskowitz, Ivan Paul — University of Chicago
- Study coordinator: Moskowitz, Ivan Paul
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.