# Core F:  Biomarker

> **NIH NIH P30** · WASHINGTON UNIVERSITY · 2021 · $264,125

## Abstract

Core F: Biomarker Project Summary
Neurodegenerative diseases result from multifactorial processes that cause pleiotropic changes in the
molecular networks that link a host of biological processes, leading to protein aggregation in the brain, and
ultimately to the relentless decline in cognition that characterizes most age-related dementing illnesses.
Neurodegenerative diseases, such as Alzheimer disease (AD), idiopathic Parkinson's disease (PD), and
frontotemporal lobar degeneration (FTLD) occur by mechanisms in which common or rare variants associated
with disease risk are directly inherited or arise sporadically. Human somatic and stem cell models have
emerged as a powerful system for modeling the complexities of pathological gene expression, particularly in
the early phase of disease, in the context of a non-neoplastic human genome. Further, human stem cells can
be differentiated into individual cell types affected in disease, such as neurons, astrocytes, microglia, and
oligodendrocytes, as well as 3D “mini-brain” organoids. To this end, we have established a biorepository of
stem cell models of AD and related dementias. The collection includes more than 200 human fibroblasts from
the Knight ADRC and the Dominantly Inherited Alzheimer Network (DIAN) and induced pluripotent stem cell
(iPSC) lines from more than 30 individuals carrying mutations in APP, PSEN1, PSEN2, GRN, MAPT, and risk
variants in MAPT, APOE, TREM2, RAB10 and PLD3. Our long-term goal is to develop a set of tools and
biomarkers for AD and related dementias. To do this, we will continue to build a biorepository of human
somatic and stem cell models. These cells will facilitate the study of basic disease mechanisms, allow for
discovery of novel biomarkers, and facilitate drug discovery platforms. We will focus on cell collection that
builds on three major areas of strength in the Knight ADRC: (1) contributions of diverse ethnic backgrounds to
molecular and cellular biomarkers of AD; (2) genetic and molecular modifiers of age at onset in large families
with a dense family history of late onset AD; and (3) comparison of the molecular and cellular biomarkers that
are common and unique between autososomal dominant AD and sporadic, late onset AD. Finally, we will make
available the human somatic and stem cell lines to the broader research community to revolutionize our
understanding of AD and related dementias.

## Key facts

- **NIH application ID:** 10164700
- **Project number:** 5P30AG066444-02
- **Recipient organization:** WASHINGTON UNIVERSITY
- **Principal Investigator:** Celeste Marie Karch
- **Activity code:** P30 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $264,125
- **Award type:** 5
- **Project period:** 2020-05-15 → 2025-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10164700

## Citation

> US National Institutes of Health, RePORTER application 10164700, Core F:  Biomarker (5P30AG066444-02). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10164700. Licensed CC0.

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