Optogenetic study of EPHA1 mutations linked to Alzheimer's disease
Official title: Optogenetic Dissection of EPHA1 Missense Mutations Implicated in Alzheimer's Disease
Funded at East Carolina University · NIH-11444305 · Data updated 2026-11-12
A patient-friendly look at how specific EPHA1 gene changes found in some people with Alzheimer’s might affect brain cells, using light-activated receptors to map their effects.
Quick facts
| Grant type | R15 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | East Carolina University NIH-funded |
| Lab location | 1 site (Greenville, United States) |
| Project start | September 1, 2026 |
| Project end | August 31, 2029 |
| Funding year | 2026 |
| Award (this year) | $512,882 |
| NIH project number | 1R15AG104244-01 |
| Project ID | NIH-11444305 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates include individuals with Alzheimer’s disease or related cognitive impairment who carry EPHA1 risk variants, or patients contributing cells for iPSC-derived neuron studies.
✕Less likely to help
People without EPHA1-related risk variants or without Alzheimer’s pathology may not directly benefit from this study.
What this research studies
This project uses a special light-controlled system to turn EPHA1 receptors on and off in human neurons and mouse brain cells, helping scientists see how the Alzheimer’s-linked mutations change signaling and cell health. The researchers will introduce the mutant EPHA1 variants into cells and study their activity, traffic within cells, and impact on important pathways like MAPK/ERK and PI3K/AKT. They will also examine how these changes affect neuron structure, synapses, and overall cell survival, and will record how neurons behave at the network level. Findings could clarify how genetic risk factors contribute to disease progression and point toward new therapeutic targets.
Why it matters
Potential benefit: If successful, this work could illuminate how specific genetic mutations drive neuron dysfunction in Alzheimer’s, guiding future therapies.
How similar studies have gone: Previous studies show that linking genetic variants to cellular signaling can reveal disease mechanisms, with optogenetic approaches offering precise control and clear readouts.
Where this research is happening
-
East Carolina University
Greenville, United States Active
Researchers
- Principal investigator: Hughes, Robert M — East Carolina University
- Study coordinator: Hughes, Robert M
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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.