Understanding optic nerve issues in people with Down syndrome
Official title: Investigating the Mechanism of Optic Nerve disorders associated with Down Syndrome
Funded at University of Alabama at Birmingham · NIH-11074234 · Data updated 2026-11-12
This study is looking at why many people with Down syndrome have vision problems caused by a condition called optic nerve hypoplasia, and it hopes to find out if adding a certain fatty acid to their diet could help improve their eyesight.
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, 2026 |
| Funding year | 2023 |
| Award (this year) | $1,475,141 |
| NIH project number | 7R01EY033141-02 |
| Project ID | NIH-11074234 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with Down syndrome who are experiencing vision problems related to optic nerve hypoplasia.
✕Less likely to help
Patients without Down syndrome or those not experiencing optic nerve issues may not benefit from this research.
What this research studies
This research investigates the high prevalence of optic nerve hypoplasia (ONH) in individuals with Down syndrome (DS), which leads to significant vision impairment. By using a mouse model with a modified CASK gene, the study aims to understand the underlying mechanisms of ONH and its connection to fatty acid metabolism. The researchers will explore how a deficiency in a specific fatty acid, arachidonic acid, affects the optic nerve and contributes to visual problems. The ultimate goal is to determine if dietary supplementation with arachidonic acid could improve outcomes for affected individuals.
Why it matters
Potential benefit: If successful, this research could lead to new dietary interventions that improve vision and quality of life for individuals with Down syndrome.
How similar studies have gone: While the specific approach of dietary arachidonic acid supplementation is novel, similar research has shown promising results in understanding and addressing optic nerve disorders.
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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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.