Heterochronic model to understand birth defects in Down syndrome
Official title: A heterochronic model for birth defects in Down Syndrome
Funded at University of Chicago · NIH-11516454 · Data updated 2026-11-12
A study at the University of Chicago will explore how having an extra chromosome 21 affects heart and brain development, aiming to uncover the causes of common birth defects in Down syndrome.
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, 2026 |
| Project end | March 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $1,591,945 |
| NIH project number | 4R01HD111938-02 |
| Project ID | NIH-11516454 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children with Down syndrome or families affected by DS who may benefit from future therapies or risk assessment based on mechanistic insights.
✕Less likely to help
This research is basic science and may not directly change care in the near term for all DS patients.
What this research studies
Researchers will use a heterochronic model to study how trisomy 21 disrupts the timing of heart and brain development. They will examine molecular networks and Hedgehog signaling as a developmental timer that influences organ-specific progenitor cells. The goal is to map how extra chromosome 21 leads to congenital heart defects and intellectual disabilities, using mammalian models to connect gene dosage with organogenesis. Findings could reveal key stages where intervention might prevent or lessen DS-related defects.
Why it matters
Potential benefit: This work could identify critical windows and molecular targets to prevent or lessen heart and brain abnormalities in Down syndrome.
How similar studies have gone: Previous work has connected trisomy 21 to developmental timing and organ defects, with mechanistic insight progressing in model systems.
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.
-
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.
-
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.
-
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.
-
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.
-
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.