# Neuropathology & Genetics Core

> **NIH NIH P01** · UNIVERSITY OF PENNSYLVANIA · 2020 · $202,500

## Abstract

Frontotemporal degeneration (FTD) is an understudied clinical neurodegenerative condition even
though it is the most common cause of dementia after Alzheimer’s disease (AD) in people <65 years old. The
most common frontotemporal lobar degeneration (FTLD) pathology associated with FTD is TDP-43
proteinopathy known as FTLD-TDP with the other major class consisting of cases of FTLD-Tau. Moreover,
several autosomal dominant gene mutations and disease-associated genetic variants have been associated
with FTD. Aside from genetic mutations that are associated with specific subtypes of FTLD, there are no
known biomarkers for the vast majority of FTD patients with sporadic disease that can reliably distinguish
patients with FTLD-TDP histopathology from those with FTLD-Tau pathology, nor from patients who present
with clinical FTD but are atypical variants of pathological AD. The Neuropathology & Genetics Core will work
with other cores and projects to improve our understanding of the TDP-related degeneration of multilevel
neural networks examined in this Program Project Grant (PPG). This core will perform a comprehensive post-
mortem brain autopsy examination to provide a definitive autopsy diagnosis for cases followed in the clinical
core B and the neuroimaging core C. We will also perform a comprehensive genetic analysis of cases and
controls to identify disease causing and associated genetic changes. Additional activities will including banking
of tissues and nucleic acids, providing tissues, data and expertise to other investigators, and conducting RNA
expression studies to further the aims of the research projects in the PPG.

## Key facts

- **NIH application ID:** 9937385
- **Project number:** 1P01AG066597-01
- **Recipient organization:** UNIVERSITY OF PENNSYLVANIA
- **Principal Investigator:** Edward Byung-Ha Lee
- **Activity code:** P01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $202,500
- **Award type:** 1
- **Project period:** 2020-09-15 → 2025-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9937385

## Citation

> US National Institutes of Health, RePORTER application 9937385, Neuropathology & Genetics Core (1P01AG066597-01). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9937385. Licensed CC0.

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