Understanding inherited Alzheimer's to improve tests and treatments
Leveraging Heterogeneity in Autosomal Dominant AD to Elucidate Pathophysiology and Improve AD Biomarkers
This project compares different inherited forms of Alzheimer's to learn why symptoms and brain markers vary and to help create better tests and therapies.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Brigham and Women's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11297549 on NIH RePORTER |
What this research studies
From a patient's viewpoint, researchers are studying families with autosomal dominant Alzheimer's caused by PS1 gene mutations to understand why age of onset and progression differ so much. They will use cell-based, biochemical, and primary neuronal models to see how different PS1 variants change the production of toxic versus non-toxic amyloid-beta fragments. The team will link those laboratory findings to biomarker patterns seen in people with these mutations to refine blood and brain tests. Insights from this work aim to guide more accurate detection of harmful amyloid species and point to targets for future treatments.
Who could benefit from this research
Good fit: People with or at risk for autosomal dominant (inherited) Alzheimer's disease—especially those with known PS1 mutations or a strong family history—are the most relevant candidates.
Not a fit: Individuals with typical late-onset sporadic Alzheimer's without known genetic mutations or those seeking immediate treatment are less likely to see direct, near-term benefits.
Why it matters
Potential benefit: If successful, this research could lead to more precise tests that detect the most harmful amyloid forms earlier and to strategies tailored to specific genetic causes of Alzheimer's.
How similar studies have performed: Prior work has linked PS1 mutations and altered gamma-secretase activity to amyloid changes, but translating those molecular findings into effective patient therapies remains largely unproven.
Where this research is happening
Boston, United States
- Brigham and Women's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Chhatwal, Jasmeer P — Brigham and Women's Hospital
- Study coordinator: Chhatwal, Jasmeer P
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.