# Genomics Core

> **NIH NIH P30** · UNIVERSITY OF PENNSYLVANIA · 2022 · $270,972

## Abstract

GENOMICS CORE SUMMARY
Core Leader: Vivianna M. Van Deerlin, MD, PhD; Core Co-leader: Corey T. McMillan, PhD
The focus of the University of Pennsylvania (Penn) Alzheimer’s Disease Research Center (ADRC) 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. Aside from rare and highly penetrant mutations that cause familial AD,
several genetic factors play a critical role for risk of AD/ADRD. Also, epigenetic markers change throughout the
lifespan and may contribute to AD heterogeneity by potentially providing resistance to pathology or resilience
to clinical progression. The Genetics Core was first funded in 2017 to meet the Penn ADRC’s growing needs of
increasing the genetic characterization of the Penn ADRC Cohort and here we propose to transition from
traditional genetics to a Genomics Core. The Genomics Core will innovatively incorporate genetics and
bioinformatics expertise with the goal of supporting the Penn ADRC mission by providing resources to conduct
and support genomics research in collaboration with the other cores through the following Aims: (1) Extract
nucleic acid from biosamples for biobanking and sharing; (2) Perform genotyping and generate polygenic risk
scores to relate to pathology and downstream processes of AD; (3) Measure DNA methylation and generate
epigenetic summary scores like “epigenetic clock”; (4) Screen and counsel patients for hereditary disease; and
(5) Enhance diversity in research and education of genetics of AD. We will accomplish these Aims by
receiving DNA from Clinical Core subjects through the Biomarker and Neuropathology Cores. DNA banking
efforts will be enhanced by the diversity of subjects in the Penn Aging Brain Cohort (ABC) Study that is
enriched for African Americans and the collaborating Aging Brain Cohort Dedicated to Diversity (ABCD2).
We will closely collaborate with the Data Management and Statistic (DMS) Core to deposit resulting data into
the Integrated Neurodegenerative Disease Database. This will enable collaborating Penn ADRC Cores, and
through data sharing initiatives other internal and external investigators, to perform genetic association studies
of neuroimaging, biofluid biomarkers and clinical progression with the goal of improving our understanding of
the complexities and heterogeneity of AD/ADRD and identifying mechanistic candidates for novel therapies.
Through these activities we will additionally contribute to the Research and Education Component (REC) by
training early career scientists including fellows and junior faculty.

## Key facts

- **NIH application ID:** 10461089
- **Project number:** 5P30AG072979-02
- **Recipient organization:** UNIVERSITY OF PENNSYLVANIA
- **Principal Investigator:** VIVIANNA M VAN DEERLIN
- **Activity code:** P30 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $270,972
- **Award type:** 5
- **Project period:** 2021-08-15 → 2026-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10461089

## Citation

> US National Institutes of Health, RePORTER application 10461089, Genomics Core (5P30AG072979-02). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10461089. Licensed CC0.

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