How genetic regulatory changes influence Parkinson's disease risk
Systematic investigation of disease-associated, regulatory variation; illuminating their prediction, molecular consequences and mechanisms contributing to risk of Parkinson disease (PD)
This project will learn how small noncoding changes in DNA control genes and may increase Parkinson's disease risk for people with or at risk for PD.
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 ID | NIH-11142505 on NIH RePORTER |
What this research studies
If I were part of this effort, researchers would map DNA regions that control gene activity in dopamine-producing brain cells and profile which genes are active there. They will link genetic differences found in people with Parkinson's to these regulatory regions using large genetic datasets and lab assays that measure chromatin openness and transcription factor activity. Some work will use human-derived samples or patient data, combined with computational tools, to identify the specific variants that change gene expression. Together this approach aims to point to genetic mechanisms that raise Parkinson's risk and suggest new targets for future therapies.
Who could benefit from this research
Good fit: Ideal candidates would include people with Parkinson's disease, individuals with a family history or high genetic risk, or those willing to donate blood or tissue samples for research.
Not a fit: Patients seeking an immediate new treatment are unlikely to receive direct benefit from this basic, mechanism-focused research.
Why it matters
Potential benefit: If successful, this work could reveal genetic switches that explain why some people develop Parkinson's and point to new targets for treatments to prevent or slow disease.
How similar studies have performed: Previous genomic and chromatin-mapping studies have identified disease-linked regulatory regions and some functional variants, but applying a comprehensive pipeline to link variants to mechanisms in dopaminergic neurons is relatively new.
Where this research is happening
Baltimore, United States
- Johns Hopkins University — Baltimore, United States (Active)
Researchers
- Principal investigator: Mccallion, Andrew S — Johns Hopkins University
- Study coordinator: Mccallion, Andrew S
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 below.