# Core D - Neuropathology, Genetics, and Biomarker Core

> **NIH NIH P30** · UNIVERSITY OF PENNSYLVANIA · 2020 · $177,854

## Abstract

Neuropathology, Genetics & Biomarker Core D
Core Leader: John Q. Trojanowski, Core Co-Leader: Eddie Lee, Co-Investigator: Vivianna Van Deerlin
Summary/Abstract: Neuropathology, Genetics & Biomarker Core D
 Nearly all neurodegenerative disorders are characterized by progressive accumulations of pathological
deposits of disease protein aggregates within cells, blood vessels or in the neuropil and these deposits are the
signature CNS lesions that define these disorders as exemplified by the senile plaques and neurofibrillary
tangles required for the postmortem diagnosis of Alzheimer's disease (AD). However, Lewy bodies (LBs) and
TDP-43 inclusions occur in >50% of AD patients, and mixed pathologies including hippocampal sclerosis and
cerebrovascular disease are features of AD including prodromal stages of disease as in mild cognitive
impairment (MCI) which shows AD and additional pathologies associated with other forms of dementia at
autopsy. Further, 20-30% of patients with clinical AD have another neurodegenerative dementia other than AD
and a similar percentage of patients diagnosed with clinical frontotemporal degeneration (FTD) have AD
pathology while the remaining patients have autopsy confirmed frontotemporal lobar degeneration (FTLD) with
tau, TDP-43 or FUS aggregates. Thus, a definite diagnosis of AD or related dementias is established only by
postmortem neuropathology studies as performed in Core D, and an accurate neuropathology diagnosis is
essential to elucidate mechanisms of AD and related dementias. Since multiple genetic factors contribute to the
risk for AD and biomarkers signal disease onset/progression, DNA and biofluids are critical for clinical genetic
and biomarker studies of AD. Hence, the University of Pennsylvania (Penn) AD Core Center (ADCC) collects,
characterizes and banks CNS tissues, DNA and biofluids from well-characterized patients with MCI, AD and
related disorders as well as normal controls followed in Clinical Core B. This approach enables a more
comprehensive understanding of an individual patient's genetic risks, clinical manifestations, disease
progression and neuropathology which are essential for conducting ADCC related research using Penn ADCC
resources. Accordingly, Core D is the “Neuropathology, Genetics and Biomarker Core” of this ADCC and it
supports the mission of the Penn ADCC by working seamlessly with all Cores to accomplish its goals.

## Key facts

- **NIH application ID:** 9962205
- **Project number:** 5P30AG010124-30
- **Recipient organization:** UNIVERSITY OF PENNSYLVANIA
- **Principal Investigator:** JOHN Q. TROJANOWSKI
- **Activity code:** P30 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $177,854
- **Award type:** 5
- **Project period:** — → —

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9962205

## Citation

> US National Institutes of Health, RePORTER application 9962205, Core D - Neuropathology, Genetics, and Biomarker Core (5P30AG010124-30). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9962205. Licensed CC0.

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