How X chromosome genes may increase Alzheimer's risk in women
Official title: The inactive X: discovering sex genes that influence female vulnerability to Alzheimer's disease
Funded at Massachusetts General Hospital · NIH-11454382 · Data updated 2026-11-12
Researchers are looking at genes on the X chromosome to learn how they might raise tau and Alzheimer's risk specifically in women.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts General Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | September 30, 2022 |
| Project end | November 30, 2027 |
| Funding year | 2026 |
| Award (this year) | $993,000 |
| NIH project number | 4DP2AG082342-02 |
| Project ID | NIH-11454382 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates would be women concerned about Alzheimer’s risk—especially older women or those with a family history—who could donate blood, provide medical information, or participate in research visits at the study site.
✕Less likely to help
Men and people whose Alzheimer's is driven solely by non–sex-linked causes are less likely to benefit directly from this sex-focused genetic work.
What this research studies
This project focuses on X-linked genes that escape the usual silencing of one X chromosome in women and how those genes might affect Alzheimer’s-related biology. The team will map which X genes escape inactivation in human tissues and study how their activity connects to immune pathways and tau protein levels. They will analyze human genetic data and biospecimens, comparing patterns in women and men to pinpoint sex-specific effects. The goal is to connect X chromosome biology to why women often show higher tau even before clinical symptoms.
Why it matters
Potential benefit: If successful, the work could explain a sex-specific cause of Alzheimer’s changes and point to new targets for preventing or treating Alzheimer’s in women.
How similar studies have gone: Prior research has documented higher tau in women, but using X-inactivation escape as an explanation is a relatively new and still unproven approach.
Where this research is happening
-
Massachusetts General Hospital
Boston, United States Active
Researchers
- Principal investigator: Buckley, Rachel Frances — Massachusetts General Hospital
- Study coordinator: Buckley, Rachel Frances
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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.