# Genetics

> **NIH NIH P01** · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · 2024 · $454,386

## Abstract

PROJECT SUMMARY—Genetics Core (Core F)
Mendelian mutations, common risk factors, and – more recently – rare risk-associated variants have been
identified in neurodegenerative diseases. Yet, a significant proportion of the heritability for Alzheimer's disease
(AD) and frontotemporal dementia (FTD) remains unexplained, suggesting that additional genetic risk factors
await identification. This PPG Genetics Core has supported PPG investigators over the past ൭൫ years by ൬)
collecting and storing DNA and RNA samples from the entire PPG cohort; ൭) providing genetic testing for known
pathogenic causes of dementia and risk-associated variants, using both traditional and next-generation
sequencing methods; ൮) contributing to the discovery of novel genes and novel risk-associated variants through
data generation and case-based screening, using genetic and genomic approaches; and ൯) establishing an
informatics platform to facilitate data sharing, storage, and mining, including access to dedicated computational
and storage resources. In this renewal application, we propose to leverage this infrastructure and expertise to
expand the portfolio of genetic and genomics assays available to the PPG. In the context of expanding roles, we
propose to transition primary core activities from UCLA (Geschwind) to UCSF (Yokoyama). We will continue
sample collection and banking and will expand our sequencing and genotyping efforts to include whole exome
sequencing for gene screening, genome-wide SNP arrays for population mapping, fragment analysis for disease-
causing trinucleotide repeat expansions, and transcriptomics in support of Project ൭: Molecular Biomarkers. Such
data will be integrated with the clinical, imaging, biomarker, and neuropathological studies being conducted within
the PPG to advance our understanding of the genetic architecture of neurodegenerative disease. Given the
fundamental nature of genetic information in the etiology and pathophysiology of FTD, this core serves all the
projects in this program and is linked to the other PPG cores.

## Key facts

- **NIH application ID:** 10890584
- **Project number:** 5P01AG019724-22
- **Recipient organization:** UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
- **Principal Investigator:** Jennifer S Yokoyama
- **Activity code:** P01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $454,386
- **Award type:** 5
- **Project period:** 2002-09-01 → 2028-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10890584

## Citation

> US National Institutes of Health, RePORTER application 10890584, Genetics (5P01AG019724-22). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10890584. Licensed CC0.

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