Investigating rare genetic variants in Parkinson's Disease using advanced techniques
Leveraging single-cell multi-omics to investigate rare noncoding variants in Parkinson's Disease
This study is looking at how rare genetic changes might affect the way genes work in people with Parkinson's Disease, using advanced technology to compare these changes in patients and healthy individuals, with the hope of finding new clues about the disease.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Francisco NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project ID | NIH-11066831 on NIH RePORTER |
What this research studies
This research focuses on understanding the role of rare noncoding genetic variants in Parkinson's Disease (PD) by analyzing how these variants influence gene regulation. Using advanced machine learning techniques, the study aims to identify patterns in chromatin accessibility specific to different cell types in PD patients. By comparing data from PD patients and cognitively healthy individuals, the research seeks to uncover the functional impact of these rare variants on gene expression, which could lead to new insights into the disease's genetic underpinnings.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Parkinson's Disease, particularly those with a family history or genetic predisposition to the condition.
Not a fit: Patients with Parkinson's Disease who do not have rare noncoding variants or those with other unrelated neurological conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could enhance our understanding of Parkinson's Disease and potentially lead to new therapeutic targets or strategies.
How similar studies have performed: While the investigation of rare noncoding variants is a relatively novel approach, previous studies have shown success in identifying genetic factors associated with other complex diseases using similar methodologies.
Where this research is happening
San Francisco, United States
- University of California, San Francisco — San Francisco, United States (Active)
Researchers
- Principal investigator: Menon, Shreya — University of California, San Francisco
- Study coordinator: Menon, Shreya
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.