Understanding how an extra chromosome affects organ development in Down Syndrome
A heterochronic model for birth defects in Down Syndrome
['FUNDING_R01'] · UNIVERSITY OF CHICAGO · NIH-10658360
This study is looking at how an extra chromosome 21 can cause heart and brain problems in babies with Down Syndrome, hoping to understand why these issues happen so that we can learn more about their development.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CHICAGO (nih funded) |
| Locations | 1 site (CHICAGO, UNITED STATES) |
| Trial ID | NIH-10658360 on ClinicalTrials.gov |
What this research studies
This research investigates how an additional copy of chromosome 21 leads to specific birth defects associated with Down Syndrome, particularly focusing on the development of the heart and brain. By studying the molecular mechanisms involved in organ development, the research aims to uncover the reasons behind structural abnormalities that are present at birth. The approach includes examining the role of Hedgehog signaling in regulating the growth and differentiation of organ-specific progenitor cells. This could provide insights into the timing and processes that lead to congenital defects in individuals with Down Syndrome.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with Down Syndrome, particularly those with congenital heart defects or intellectual disabilities.
Not a fit: Patients without Down Syndrome or those who do not exhibit congenital 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 congenital defects in individuals with Down Syndrome.
How similar studies have performed: Previous research has shown promising results in understanding congenital defects through similar molecular approaches, indicating potential for success in this area.
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.