DNA repeat changes linked to Alzheimer's disease
A comprehensive study of tandem repeat variation as a cause of Alzheimer's disease
Researchers will search whole-genome DNA from people with and without Alzheimer's for repeating DNA patterns that might explain why some people develop the disease.
Quick facts
| Grant type | R01 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-11456929 on NIH RePORTER |
What this research studies
This project will analyze about 62,000 genomes from the Alzheimer's Disease Sequencing Project alongside roughly 48,000 control genomes from TOPMed using new computer tools that detect tandem repeat expansions and variable-number tandem repeats. The team will compare repeat patterns between people with Alzheimer's and people without to find repeat changes associated with disease risk or cause. Work includes re-genotyping VNTR copy numbers and searching the whole genome for previously missed repeat expansions. Results could identify new genetic causes, better risk markers, and targets for future tests or treatments.
Who could benefit from this research
Good fit: People with Alzheimer's disease, related dementias, or a strong family history who are willing to share genetic data or provide DNA samples for sequencing would be the best fit.
Not a fit: People seeking an immediate new treatment or whose dementia is driven entirely by non-genetic factors are unlikely to receive direct benefit from this project.
Why it matters
Potential benefit: If successful, this work could reveal new genetic causes or risk markers for Alzheimer's that improve diagnosis and open paths to targeted treatments.
How similar studies have performed: Similar approaches have found repeat expansions as causes in other neurological disorders and early evidence links some repeat changes to Alzheimer's, but applying these tools at this scale is relatively novel.
Where this research is happening
New York, United States
- Icahn School of Medicine at Mount Sinai — New York, United States (Active)
Researchers
- Principal investigator: Sharp, Andrew James — Icahn School of Medicine at Mount Sinai
- Study coordinator: Sharp, Andrew James
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.