Investigating genetic factors affecting brain protein accumulation in dementia and Parkinson's disease
Determining the Interacting Effects of GBA, SNCA, and APOE on a-Synuclein Pathology Severity in Dementia with Lewy Bodies and Parkinson's Disease
This study is looking at how certain genes might affect the severity of symptoms in people with dementia with Lewy bodies and Parkinson's disease, helping us understand why some folks have worse symptoms than others, even if their genes are similar.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-10999445 on NIH RePORTER |
What this research studies
This research explores how specific genetic factors, including mutations in the GBA, SNCA, and APOE genes, interact to influence the severity of α-synuclein pathology in conditions like dementia with Lewy bodies and Parkinson's disease. By examining the interplay between these genetic factors and different cell types, the study aims to uncover the mechanisms that lead to the accumulation of harmful proteins in the brain. Understanding these interactions could provide insights into why some individuals develop more severe symptoms than others, despite having similar genetic backgrounds. The research employs advanced genetic analysis and cellular models to investigate these complex relationships.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with dementia with Lewy bodies or Parkinson's disease, particularly those with known genetic mutations in GBA, SNCA, or APOE.
Not a fit: Patients without these specific genetic mutations or those with other forms of dementia unrelated to α-synuclein pathology may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential new treatments for dementia and Parkinson's disease by targeting the underlying genetic interactions.
How similar studies have performed: While the investigation of genetic interactions in synucleinopathies is a growing field, this specific approach focusing on the interplay of GBA, SNCA, and APOE is relatively novel and has not been extensively tested.
Where this research is happening
New York, United States
- Icahn School of Medicine at Mount Sinai — New York, United States (Active)
Researchers
- Principal investigator: Goldman, Camille — Icahn School of Medicine at Mount Sinai
- Study coordinator: Goldman, Camille
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.