Regulatory DNA Variants in Parkinson’s Disease: How Noncoding Changes Shape Gene Activity
Official title: Systematic investigation of disease-associated, regulatory variation; illuminating their prediction, molecular consequences and mechanisms contributing to risk of Parkinson disease (PD)
Funded at Johns Hopkins University · NIH-11380674 · Data updated 2026-11-12
A Johns Hopkins-led study will explore how noncoding genetic variants change gene activity and contribute to Parkinson’s disease risk, using brain cells and advanced chromatin mapping.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project start | July 22, 2024 |
| Project end | June 30, 2029 |
| Funding year | 2026 |
| Award (this year) | $632,306 |
| NIH project number | 5R01NS134805-03 |
| Project ID | NIH-11380674 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with Parkinson’s disease or those at risk who may benefit from future diagnostic or therapeutic advances related to regulatory DNA mechanisms.
✕Less likely to help
Patients without Parkinson’s disease or without risk-related regulatory variants may not directly benefit.
What this research studies
This project focuses on how regulatory DNA differences influence the proteins that turn genes on or off in brain cells related to Parkinson’s disease. Researchers will map chromatin accessibility and gene expression in dopaminergic neurons to see how variants alter cellular programs. They will use computational tools to predict which variants affect transcription factors and then test those ideas in models that mimic human brain cells. The aim is to prioritize variants for functional studies and uncover the mechanisms driving disease susceptibility.
Why it matters
Potential benefit: Understanding regulatory changes could lead to new targets for therapies that modify disease risk or progression.
How similar studies have gone: Previous work has linked regulatory variation to disease risk and shown the value of chromatin maps in prioritizing functional variants.
Where this research is happening
-
Johns Hopkins University
Baltimore, United States Active
Researchers
- Principal investigator: Mccallion, Andrew S — Johns Hopkins University
- Study coordinator: Mccallion, Andrew S
Related research
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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.