# Core D: Genetics Core

> **NIH NIH P01** · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · 2021 · $186,537

## Abstract

ABSTRACT
Mendelian mutations, common risk factors, and – more recently – rare risk-associated variants have been
identified in neurodegenerative dementia. Yet, a significant proportion of the heritability for Alzheimer's Disease
(AD) and Frontotemporal Dementia (FTD) remains unexplained, strongly suggesting that additional genetic risk
factors await to be identified. Over the past 9 years, the Genetics Core has supported PPG investigators by 1)
collecting and storing DNA and RNA samples from the entire PPG cohort; 2) providing genetic testing for
known pathogenic causes of dementia and risk-associated variants; 3) contributing to the discovery of novel
genes and novel risk-associated variants; 4) establishing an informatics platform to facilitate data sharing,
storage and mining. In this renewal application, we propose to efficiently leverage this infrastructure and
expertise, so as to expand the portfolio of genetic and genomics assays available to PPG investigators. We
propose to continue sample collection and banking, to expand our sequencing and genotyping efforts to
include all the known causes of Mendelian forms of dementia, the top disease susceptibility variants, and
genome sequencing in a subset of the PPG cohort. These studies will contribute to a better patient
characterization, and pave the way for subject selection and stratification based on genetic profiling in future
clinical trials. Given the fundamental nature of genetic information in etiology and pathophysiology of FTD, this
Core serves all of the projects in this program and is linked to the other PPG cores.

## Key facts

- **NIH application ID:** 10169204
- **Project number:** 5P01AG019724-20
- **Recipient organization:** UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
- **Principal Investigator:** Giovanni Coppola
- **Activity code:** P01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $186,537
- **Award type:** 5
- **Project period:** 2002-09-01 → 2023-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10169204

## Citation

> US National Institutes of Health, RePORTER application 10169204, Core D: Genetics Core (5P01AG019724-20). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10169204. Licensed CC0.

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