Exploring how Down syndrome affects optic nerve health in kids
Official title: Investigating the Mechanism of Optic Nerve disorders associated with Down Syndrome
Funded at University of Alabama at Birmingham · NIH-11641009 · Data updated 2026-11-12
A study using a mouse model to understand why optic nerve problems are common in children with Down syndrome and how to prevent them.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Alabama at Birmingham NIH-funded |
| Lab location | 1 site (Birmingham, United States) |
| Project start | August 1, 2023 |
| Project end | July 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $478,880 |
| NIH project number | 4R01EY033141-03 |
| Project ID | NIH-11641009 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children with Down syndrome at risk for optic nerve hypoplasia or related visual issues, or those with a family history/biomarkers indicating higher risk.
✕Less likely to help
Children without Down syndrome or without optic nerve concerns are unlikely to benefit directly.
What this research studies
This project uses a mouse model with a modified CASK gene to mimic optic nerve hypoplasia seen in Down syndrome. Researchers will examine how changes in fatty acid metabolism, especially arachidonic acid, relate to optic nerve development and visual function. The work will look at whether dietary arachidonic acid could influence disease progression and visual outcomes. The study aims to identify mechanisms behind optic nerve damage and potential early interventions to protect vision in affected children.
Why it matters
Potential benefit: If successful, findings could lead to dietary or therapeutic strategies to preserve or improve vision in children with Down syndrome who are at risk for optic nerve problems.
How similar studies have gone: Prior work in animal models and human data suggests a link between fatty acid metabolism and optic nerve health, supporting potential translational relevance.
Where this research is happening
-
University of Alabama at Birmingham
Birmingham, United States Active
Researchers
- Principal investigator: Mukherjee, Konark — University of Alabama at Birmingham
- Study coordinator: Mukherjee, Konark
Related research
Other NIH-funded projects on the same topics.
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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.
-
Executive Function Support for Young Children with Down Syndrome
A caregiver-led program helps young children with Down syndrome build executive function skills during a 12-week period.
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.