# Development and application of new tools to identify repeat expansions in human diseases

> **NIH NIH K99** · STANFORD UNIVERSITY · 2023 · $118,590

## Abstract

Frontotemporal dementia (FTD) is a devastating neurological disease that is
characterized by behavioral and personality changes, as well as memory loss as the disease
progresses. In familial FTD, the major genetic cause is a tandem repeat (TR) expansion in
C9orf72, demonstrating that TR expansions can lead to Alzheimer’s Disease Related Dementia
(ADRD). Despite the importance of TRs to FTD, the frequency and function of TR variants
associated with Alzheimer’s Disease (AD) is unknown.
 We hypothesize that variations in TR DNA sequences are associated with AD. We have
recently deployed new tools to genotype hundreds of thousands of TRs in the human genome
with high accuracy and precision. Therefore, our overall objective is to identify TR variations
from whole-genome sequencing data in AD and control cohorts. This supplement award will
provide a new angle to analyze thousands of NIH-funded, publicly-available AD datasets
released through the National Institute on Aging Genetics of Alzheimer’s Disease (NIAGADS)
Data Sharing Service. Furthermore, annotating TR variants associated with AD will determine
whether some of these genetic variants are functionally implicated in disease. These results will
illuminate our understanding of genetic risk factors in AD and set the stage for a new class of
precision-targeted therapeutics.

## Key facts

- **NIH application ID:** 10729985
- **Project number:** 3K99HG011467-02S1
- **Recipient organization:** STANFORD UNIVERSITY
- **Principal Investigator:** Graham Scott Erwin
- **Activity code:** K99 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2023
- **Award amount:** $118,590
- **Award type:** 3
- **Project period:** 2021-01-01 → 2023-12-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10729985

## Citation

> US National Institutes of Health, RePORTER application 10729985, Development and application of new tools to identify repeat expansions in human diseases (3K99HG011467-02S1). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/10729985. Licensed CC0.

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