# Mapping Molecular and Phenotypic Interactions in Alzheimers Disease

> **NIH NIH R01** · STANFORD UNIVERSITY · 2022 · $735,792

## Abstract

Abstract
Alzheimer’s Disease (AD) is a leading cause of cognitive decline and mortality in the elderly. Treatment
options for AD are limited, and there is a huge need for better medical options. AD is associated with
progressive expansion of beta amyloid plaques in the brain, leading over time to loss of brain tissue and
cognitive function. However, at present, understanding of the underlying drivers of AD is incomplete. In this
project, we will use a combination of large data sets of genetic and phenotypic data, as well as functional
genomics, to further elucidate the biological processes, pathways, and cell types leading to AD. Specifically,
we will use existing functional genomics data, as well as newly generated Massively Parallel Reporter Assays
and advanced colocalization and outlier-based statistical approaches to identify functional regulatory variants
at disease-relevant loci; these will be used to increase the power to detect AD-associated variants, particularly
for low-frequency sites. Furthermore, we will focus on linking intermediate biomarkers such as metabolites
and brain imaging data, and traits such as diabetes, cardiovascular disease and sleep patterns to AD risk using
Mendelian Randomization and clustering techniques. We will further aim to partition the GWAS signal into
discrete biological factors, both by pathways/processes and by tissue. In sum, this work will lead to deeper
understanding of the causal genetic drivers of Alzheimer’s Disease.

## Key facts

- **NIH application ID:** 10347286
- **Project number:** 5R01AG066490-03
- **Recipient organization:** STANFORD UNIVERSITY
- **Principal Investigator:** Stephen Montgomery
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $735,792
- **Award type:** 5
- **Project period:** 2020-02-01 → 2025-01-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10347286

## Citation

> US National Institutes of Health, RePORTER application 10347286, Mapping Molecular and Phenotypic Interactions in Alzheimers Disease (5R01AG066490-03). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10347286. Licensed CC0.

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