Understanding why synapses don’t form properly in Down syndrome
Official title: Molecular mechanisms underlying synaptic deficiency in Down syndrome
Funded at University of Wisconsin-Madison · NIH-11447396 · Data updated 2026-11-12
This project looks at why brain connections may be weaker in people with Down syndrome and how this affects learning and behavior.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Wisconsin-Madison NIH-funded |
| Lab location | 1 site (Madison, United States) |
| Project start | September 2, 2026 |
| Project end | April 30, 2031 |
| Funding year | 2026 |
| Award (this year) | $568,615 |
| NIH project number | 1R01HD120347-01A1 |
| Project ID | NIH-11447396 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are individuals with Down syndrome or related neurodevelopmental profiles, or those contributing human-derived cellular models of early brain development.
✕Less likely to help
Direct benefits may be limited for those without neurodevelopmental conditions studied here.
What this research studies
Researchers at the University of Wisconsin–Madison will study how early brain development affects the formation of synapses in Down syndrome, focusing on the role of a protein called CBLN2. Using human-derived models and advanced 3D culture systems, they aim to uncover molecular events that lead to fewer synapses and altered signaling. The findings could point to new ways to support healthy brain connectivity during development and potentially improve cognitive outcomes. This work centers on paediatric and adolescent contexts where ASD and neurodevelopmental challenges intersect with Down syndrome.
Why it matters
Potential benefit: If successful, the work could identify targets to improve synapse formation and brain function in Down syndrome.
How similar studies have gone: Past research has linked reduced synaptic formation to cognitive challenges in Down syndrome, with ongoing efforts building on that knowledge.
Where this research is happening
-
University of Wisconsin-Madison
Madison, United States Active
Researchers
- Principal investigator: Sousa, Andre M. M. — University of Wisconsin-Madison
- Study coordinator: Sousa, Andre M. M.
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.
-
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.