# Characterizing complex structural variation in Alzheimer's disease

> **NIH NIH UF1** · COLUMBIA UNIVERSITY HEALTH SCIENCES · 2020 · $5,072,723

## Abstract

PROJECT SUMMARY
Late-onset Alzheimer’s disease (LOAD) is genetically complex and thought to be associated with variants in a
number of different loci, including structural variants (SVs), which could in part explain the additional missing
heritability and genetic background. However, the impact of SVs on LOAD has not been systematically explored,
while findings regarding CNV associations with AD risk have been overall inconsistent. To address this gap in
knowledge, we propose to fully characterize the genetic architecture of SVs in LOAD by leveraging previously
generated large-scale whole genome sequencing data. To this end, we will systematically characterize SVs
across 39,000 samples from multi-ethnic, well-phenotyped individuals sequenced as a part of Alzheimer’s
Disease Sequencing Project (ADSP) discovery, extension replication (ADSP-DEP) and follow-up datasets
(ADSP-FUS), as well as in over 1000 multiplex families. Identification of novel SVs associated with LOAD could
implicate previously unknown genes and elucidate biological mechanisms that could be leveraged to generate
novel therapeutics and diagnostic markers.

## Key facts

- **NIH application ID:** 10033702
- **Project number:** 1UF1AG068028-01
- **Recipient organization:** COLUMBIA UNIVERSITY HEALTH SCIENCES
- **Principal Investigator:** Badri N Vardarajan
- **Activity code:** UF1 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $5,072,723
- **Award type:** 1
- **Project period:** 2020-09-15 → 2024-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10033702

## Citation

> US National Institutes of Health, RePORTER application 10033702, Characterizing complex structural variation in Alzheimer's disease (1UF1AG068028-01). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10033702. Licensed CC0.

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