Investigating how Alzheimer's disease risk genes affect brain function and connections
The Role of Alzheimer's Disease Risk Genes in Neural Function, Degeneration, and Synapse Organization
This study is looking at how certain genes related to Alzheimer's disease, especially the PSEN1 gene, affect brain function and could help us understand why some people develop the disease, which might lead to new treatments that could help patients in the future.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Thomas Jefferson University NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11049846 on NIH RePORTER |
What this research studies
This research focuses on understanding the role of specific genes associated with Alzheimer's disease and how they impact brain function and the organization of synapses. By examining mutations in the PSEN1 gene, which is linked to early-onset Alzheimer's, the study aims to uncover how these genetic changes lead to the accumulation of harmful proteins in the brain. The research will explore the normal functions of these genes and how disruptions can lead to cognitive decline, potentially paving the way for new therapeutic strategies. Patients may benefit from insights gained into the biological processes underlying Alzheimer's disease.
Who could benefit from this research
Good fit: Ideal candidates for this research include adults aged 21 and older who may have genetic risk factors for Alzheimer's disease.
Not a fit: Patients with Alzheimer's disease who do not have genetic mutations linked to the risk genes being studied may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new understanding and potential treatments for Alzheimer's disease, improving outcomes for patients.
How similar studies have performed: Previous research has shown promising results in understanding the genetic factors of Alzheimer's disease, indicating that this approach has potential for success.
Where this research is happening
Philadelphia, United States
- Thomas Jefferson University — Philadelphia, United States (Active)
Researchers
- Principal investigator: Mosca, Timothy J. — Thomas Jefferson University
- Study coordinator: Mosca, Timothy J.
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.