# Genetic Core H

> **NIH NIH P30** · UNIVERSITY OF PENNSYLVANIA · 2020 · $300,142

## Abstract

UNIVERSITY OF PENNSYLVANIA ALZHEIMER’S DISEASE CORE CENTER
ABSTRACT: REVISION TO CREATE A NEW GENETICS CORE (CORE H)
ADCC Director and Principal Investigator: John Q. Trojanowski, MD, PhD
Genetics Core Leader: Vivianna Van Deerlin, MD, PhD; Co-Leader: Gerard Schellenberg, PhD
This is an application for a revision of the University of Pennsylvania (Penn) Alzheimer Disease Core Center
(ADCC) to establish an independent Genetics Core (Core H). We propose to create a Genetics Core which will
enhance and expand the genetics activities of the Penn ADCC. The focus of the Penn ADCC is to develop a
mechanistic understanding of the still evolving complexity of Alzheimer disease (AD) and related dementias
(ADRD) by studying the spectrum of disease from earliest onset through progressive stages of disease and
ultimately at autopsy. Genetic factors play a critical role in the risk for AD as well as related dementias (RD)
including Lewy body dementia and frontotemporal degeneration, which share common mechanisms of
neurodegeneration with AD. Furthermore, many patients have more than one clinical or pathologic phenotype
and 20-30% of patients with a clinical diagnosis of AD do not have AD pathology, but instead represent a RD.
Therefore, the proposed Genetics Core will support the mission of the Penn ADCC by providing the necessary
resources, including the leadership and genetics expertise of Vivianna Van Deerlin and Gerard Schellenberg,
to conduct and support molecular genetics research of ADRD in collaboration with the existing Cores. To this
end, the Specific Aims of Core H are to: 1) Serve as a repository for DNA collected from Clinical Core B
participants and autopsy brains characterized in Neuropathology Core D. Collected samples will undergo
quality control and ancestry measures and will be available for use by Penn investigators and external
collaborators, including shipment to NCRAD; 2) Genotype risk factor variants associated with ADRD in the
Clinical Core B cohort of ADRD, MCI, and control subjects to use in Penn studies as covariates, including
APOE and other previously identified risk factor loci using a variety of approaches. In addition, perform genetic
analysis of genes associated with hereditary neurodegenerative diseases in ADRD subjects; 3) Serve as a
centralized resource for storage and handling of genetic and sample data in conjunction with the Data
Management, Bioinformatics and Biostatistics Core C; 4) Contribute to patient and community education efforts
of the Outreach and Recruitment Core E by providing genetic counseling services to Clinical Core B
participants and to training activities of Research Education Core F as they relate to genetics and biospecimen
collection education. In summary, this proposed Genetics Core H will interact with all existing cores as well as
the recently submitted Biomarker Core G thereby augmenting the genetics activities and extending the aims of
the Penn ADCC as a whole.

## Key facts

- **NIH application ID:** 9962209
- **Project number:** 5P30AG010124-30
- **Recipient organization:** UNIVERSITY OF PENNSYLVANIA
- **Principal Investigator:** VIVIANNA M VAN DEERLIN
- **Activity code:** P30 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $300,142
- **Award type:** 5
- **Project period:** — → —

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9962209

## Citation

> US National Institutes of Health, RePORTER application 9962209, Genetic Core H (5P30AG010124-30). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/9962209. Licensed CC0.

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