# Functional characterization of Alzheimer's disease associated genetic variants

> **NIH NIH R01** · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · 2020 · $833,789

## Abstract

Project Summary/Abstract
Alzheimer's disease (AD) is a devastating complex neurological degenerative disorder affecting 10% of people
over 65 with no cure. The overarching goal of the proposed study is to identify and functionally characterize
AD-associated SNPs utilizing novel functional genomic approaches and iPSC-derived cellular models. Our
plans include: (1) Determine the functional significance of candidate SNPs in three iPSC-drived 2D AD relevant
cell types. (2) Identify genes regulated by distal non-coding SNPs in three iPSC-drived 2D AD relevant cell
types. (3) Test the biological consequences of high confidence AD rSNPs from (1) and (2) in isogenic iPSC-
derived 2D cell cultures and 3D minibrain organoids. The designed study will be very first comprehensive
investigation of AD associated SNPs, thus will shed light on how non-coding genetic variations contribute to
AD. Obtaining knowledge for the fundamental genetic mechanisms of AD will expand our horizons to develop
improved preventative and diagnostic methods, and also yield targets for novel therapeutic interventions,
ultimately leading to a cure for AD.

## Key facts

- **NIH application ID:** 9944436
- **Project number:** 5R01AG057497-04
- **Recipient organization:** UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
- **Principal Investigator:** Li Gan
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $833,789
- **Award type:** 5
- **Project period:** 2017-09-30 → 2022-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9944436

## Citation

> US National Institutes of Health, RePORTER application 9944436, Functional characterization of Alzheimer's disease associated genetic variants (5R01AG057497-04). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/9944436. Licensed CC0.

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