# Core G:  Genetics & High Throughput Omics

> **NIH NIH P30** · WASHINGTON UNIVERSITY · 2021 · $275,625

## Abstract

Core G: Genetics and High Throughput -Omics Project Summary
Aging populations worldwide, particularly in developed countries, face an increasing burden of
neurodegenerative diseases, particularly Alzheimer disease (AD), Frontotemporal dementia (FTD), and other
AD-related dementias (ADRDs). Genetic studies have greatly contributed to our understanding of these
complex diseases. Initial studies of a Mendelian form of AD resulted in the identification of mutations in the
genes encoding β-amyloid precursor protein (APP), Presenilin 1 (PSEN1), and Presenilin 2 (PSEN2).
Mutations in Granulin (GRN), Microtubule-Associated Protein Tau (MAPT), and C9orf72 have been identified
as causes of FTD. These diseases are characterized by protein misfolding and aggregation, and also share
some clinical and neuropathological characteristics. The promise of the twenty-first century is that we will be
able to classify these diseases by the genetic cause or genetic risk factors. Furthermore, it is clear that studies
beyond genetics, such as transcriptomics, proteomics, or epigegomics, are needed to fully understand the
biology of AD and ADRDs, with the intention of identifying novel biomarkers and therapeutic targets. The goal
of the Genetics and High Throughput -Omics Core at the Knight ADRC is to obtain, bank and QC
biospecimens (DNA, RNA and plasma) from Knight ADRC participants. The Core shares these biospecimens
with qualified investigators that will generate genetic or other -omic data for these samples. The Core also
stores and harmonizes all genome-wide association study (GWAS), whole exome sequencing (WES), whole
genome sequencing (WGS), transcriptomic, and proteomic data generated for Knight ADRC participants in
order to guarantee the integrity and compatibility of the data so that these data can be shared with the scientific
community.

## Key facts

- **NIH application ID:** 10164701
- **Project number:** 5P30AG066444-02
- **Recipient organization:** WASHINGTON UNIVERSITY
- **Principal Investigator:** Carlos Cruchaga
- **Activity code:** P30 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $275,625
- **Award type:** 5
- **Project period:** 2020-05-15 → 2025-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10164701

## Citation

> US National Institutes of Health, RePORTER application 10164701, Core G:  Genetics & High Throughput Omics (5P30AG066444-02). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10164701. Licensed CC0.

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