Understanding how a specific brain condition leads to early-onset dementia
Official title: Elucidating the mechanisms by which microgliopathy causes early-onset dementia
Funded at Washington University · NIH-11057341 · Data updated 2026-11-12
This study is looking into how Nasu-Hakola Disease, a rare genetic condition that causes early dementia, affects the brain, with the hope of finding new ways to help people with this and similar conditions.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project start | September 30, 2024 |
| Project end | August 31, 2026 |
| Funding year | 2024 |
| Award (this year) | $427,625 |
| NIH project number | 1R21AG085133-01A1 |
| Project ID | NIH-11057341 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Nasu-Hakola Disease or those with early-onset dementia linked to genetic factors.
✕Less likely to help
Patients with common forms of Alzheimer's disease without genetic mutations may not benefit from this research.
What this research studies
This research investigates the mechanisms behind Nasu-Hakola Disease (NHD), a rare genetic condition that causes early-onset dementia. By examining brain tissue from affected individuals, the study aims to understand how mutations in specific genes lead to abnormal microglial responses, which may contribute to rapid disease progression. The researchers will utilize advanced techniques like single nucleus RNA sequencing to analyze the unique signaling pathways involved in this condition. The ultimate goal is to identify potential therapeutic targets that could improve outcomes for patients with similar dementias.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for early-onset dementia and improve the quality of life for affected individuals.
How similar studies have gone: While research on Nasu-Hakola Disease is limited, understanding genetic dementias has shown promise in identifying new therapeutic approaches in related conditions.
Where this research is happening
-
Washington University
Saint Louis, United States Active
Researchers
- Principal investigator: Colonna, Marco — Washington University
- Study coordinator: Colonna, Marco
Related research
Other NIH-funded projects on the same topics.
-
Investigating how DNA damage and repair mechanisms are altered in ALS and frontotemporal dementia.
This study is looking at how problems with DNA repair might contribute to conditions like ALS and frontotemporal dementia, and it’s testing ways to fix these issues in cells from patients to help develop new treatments.
-
Synthetic protein mimetics to treat Lewy Body Dementia
A new therapeutic approach using engineered protein-like molecules to block the harmful protein clumps that cause Lewy Body Dementia.
-
Dementia care staff study: adapting a US survey for use in many countries
A study is adapting and testing a survey for dementia care workers in the US, Brazil, Switzerland, and Ghana to help understand why workers stay in their jobs and how to improve care.
-
Dementia care staff study: adapting a survey for use in many countries
A multinational study will adapt and test a U.S. dementia-care worker survey in Brazil, Switzerland, and Ghana to help understand why staff stay in or leave long-term care settings.
-
Study of Dementia Care Staff in 4 Countries: Adapting Caregiver Surveys Across Cultures
A multinational project will adapt and test a dementia care worker survey so researchers can compare care environments across the US, Brazil, Switzerland, and Ghana.
-
New biomarkers to distinguish LATE from Alzheimer’s disease in dementia
A study to develop blood and CSF tests that can tell apart LATE from Alzheimer’s disease in people with dementia.
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.