Brain tissue and genetics support for frontotemporal degeneration (FTD)
Neuropathology & Genetics Core
['FUNDING_P01'] · UNIVERSITY OF PENNSYLVANIA · NIH-11265588
This program uses brain autopsies, genetic testing, and biofluid data to learn what causes frontotemporal degeneration and how different underlying pathologies differ in people with FTD and related dementias.
Quick facts
| Phase | ['FUNDING_P01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF PENNSYLVANIA (nih funded) |
| Locations | 1 site (PHILADELPHIA, UNITED STATES) |
| Trial ID | NIH-11265588 on ClinicalTrials.gov |
What this research studies
From a patient perspective, the core collects and examines donated brain tissue after death to give a definitive diagnosis of the exact brain changes causing someone’s symptoms. It also runs comprehensive genetic testing on cases and controls to find inherited or associated DNA changes. The core links pathology and genetics with clinical records, imaging, and biofluid measures from people followed in the program to search for markers that differentiate TDP-43, Tau, and atypical Alzheimer pathology. Results are shared with the program’s clinical and neuroimaging teams to improve diagnosis and guide future biomarker and therapeutic work.
Who could benefit from this research
Good fit: Ideal candidates are people diagnosed with or suspected to have frontotemporal degeneration, family members with known FTD-linked mutations, and those willing to participate in genetic testing and brain donation programs.
Not a fit: People without FTD or those who cannot or will not provide genetic samples or brain donation are unlikely to receive direct benefits from this core.
Why it matters
Potential benefit: If successful, this work could help doctors diagnose the exact type of brain disease underlying FTD while someone is alive and point to targets for more precise treatments.
How similar studies have performed: Autopsy and genetics approaches have previously identified some genetic causes and clarified pathology subtypes, but reliably distinguishing FTLD-TDP from FTLD-Tau ante-mortem remains an ongoing challenge.
Where this research is happening
PHILADELPHIA, UNITED STATES
- UNIVERSITY OF PENNSYLVANIA — PHILADELPHIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: LEE, EDWARD BYUNG-HA — UNIVERSITY OF PENNSYLVANIA
- Study coordinator: LEE, EDWARD BYUNG-HA
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.
Conditions: Alzheimer disease dementia