Inducible gene dosage correction in Down Syndrome organoid and rodent models carrying human chromosome 21
Funded at University of Connecticut Sch of Med/dnt · NIH-11442340 · Data updated 2026-11-12
A study explores turning down extra chromosome 21 genes in lab-grown brain organoids and animal models to see if it can prevent or lessen Down syndrome–related brain changes.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Connecticut Sch of Med/dnt NIH-funded |
| Lab location | 1 site (Farmington, United States) |
| Project start | September 1, 2026 |
| Project end | August 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $457,875 |
| NIH project number | 1R21HD123376-01 |
| Project ID | NIH-11442340 on NIH RePORTER |
Who could benefit from this research
✓Could help
Not applicable to patient participation in this specific grant; findings aim to inform future patient-facing therapies.
✕Less likely to help
No direct patient participation in this grant.
What this research studies
Researchers will use an inducible system to silence one copy of chromosome 21 in human-derived organoids and in rodent models to understand how extra genes contribute to Down syndrome features and later Alzheimer-like changes. The project combines stem cell technology and animal work to pinpoint which genes and brain cell types might be most responsive to therapy. This could identify promising targets for treatments that could mitigate cognitive or neurodegenerative issues in people with Down syndrome. The work aims to map when and where reducing gene dosage could influence development and aging-related brain changes.
Why it matters
Potential benefit: If successful, this approach could guide therapies that reduce Down syndrome–related brain problems and delay Alzheimer’s-like changes.
How similar studies have gone: Prior work showed that selectively silencing chromosome 21 genes can be achieved in human-derived cells and model systems, suggesting potential for therapeutic strategies.
Where this research is happening
-
University of Connecticut Sch of Med/dnt
Farmington, United States Active
Researchers
- Principal investigator: Pinter, Stefan F. — University of Connecticut Sch of Med/dnt
- Study coordinator: Pinter, Stefan F.
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.
-
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.
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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.