Understanding how an extra chromosome affects organ development in Down Syndrome
Official title: A heterochronic model for birth defects in Down Syndrome
Funded at University of Chicago · NIH-10658360 · Data updated 2026-11-12
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
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Chicago NIH-funded |
| Lab location | 1 site (Chicago, United States) |
| Project start | April 1, 2023 |
| Project end | March 31, 2026 |
| Funding year | 2023 |
| Award (this year) | $5,035,031 |
| NIH project number | 1R01HD111938-01 |
| Project ID | NIH-10658360 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with Down Syndrome, particularly those with congenital heart defects or intellectual disabilities.
✕Less likely to help
Patients without Down Syndrome or those who do not exhibit congenital defects may not benefit from this research.
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.
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 gone: 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
-
University of Chicago
Chicago, United States Active
Researchers
- Principal investigator: Moskowitz, Ivan Paul — University of Chicago
- Study coordinator: Moskowitz, Ivan Paul
Related research
Other NIH-funded projects on the same topics.
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Exploring how Down syndrome affects optic nerve health in kids
A study using a mouse model to understand why optic nerve problems are common in children with Down syndrome and how to prevent them.
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Executive Function Enhancement for Young Children with Down Syndrome
A caregiver-guided program for kids with Down syndrome aged up to 11 to strengthen their thinking skills during early childhood.
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Silencing an Extra Chromosome to Help Down Syndrome and Related Conditions
A patient-friendly plan to use a gene-based approach to quiet an extra chromosome in cells and a mouse model to reduce disease-related effects in Down syndrome and other chromosomal imbalance disorders.
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Infant Down Syndrome Brain and Behavior Study
A study of infants with Down syndrome to collect brain imaging and developmental data, creating a large, shared resource to understand how autism and other factors relate to development.
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DS-ARC: Smartphone-based cognitive check for people with Down syndrome at risk for Alzheimer’s
A smartphone-based cognitive test is being developed and tested for people with Down syndrome who may develop Alzheimer’s disease, to track changes quietly in daily life.
-
Immune and NGF factors in Alzheimer’s for adults with Down syndrome
This grant studies why people with Down syndrome develop Alzheimer’s disease by looking at immune signals and nerve growth factor problems.
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.