Investigating a genetic variant's role in Alzheimer's disease.
Pathogenic Role of APP E590D in Alzheimer’s Disease.
['FUNDING_R03'] · CASE WESTERN RESERVE UNIVERSITY · NIH-11159819
This study is looking at a specific gene change that may lead to more harmful proteins in the brains of people with Alzheimer's, using human brain cells and mice to learn how it affects brain health and could help find new treatments.
Quick facts
| Phase | ['FUNDING_R03'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | CASE WESTERN RESERVE UNIVERSITY (nih funded) |
| Locations | 1 site (CLEVELAND, UNITED STATES) |
| Trial ID | NIH-11159819 on ClinicalTrials.gov |
What this research studies
This research focuses on the APP E590D variant, which has been linked to increased production of amyloid-beta (Aβ) in Alzheimer's disease. By using human neurons derived from patients' fibroblasts, the study aims to understand how this variant affects Aβ pathology and neuronal health. The researchers will also create a mouse model to further explore the effects of this variant on Alzheimer's-related processes. This approach could provide insights into the mechanisms of Alzheimer's disease and potential therapeutic targets.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with a genetic predisposition to Alzheimer's disease, particularly those with the APP E590D variant.
Not a fit: Patients without the APP E590D variant or those with other forms of dementia may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new strategies for diagnosing and treating Alzheimer's disease.
How similar studies have performed: Previous research has shown success in understanding the role of genetic variants in Alzheimer's disease, making this approach promising.
Where this research is happening
CLEVELAND, UNITED STATES
- CASE WESTERN RESERVE UNIVERSITY — CLEVELAND, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: LIU, TIAN — CASE WESTERN RESERVE UNIVERSITY
- Study coordinator: LIU, TIAN
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.