# Therapeutic target discovery in ADSP data via comprehensive whole-genome analysis incorporating ethnic diversity and systems approaches

> **NIH NIH U01** · BOSTON UNIVERSITY MEDICAL CAMPUS · 2021 · $112,663

## Abstract

Project Summary/Abstract
The goal of this two-year Research Diversity Supplement for the “Therapeutic target discovery
in ADSP data via comprehensive whole-genome analysis incorporating ethnic diversity and
systems approaches” parent award (U01AG058589) is to provide Dr. Nafikov with necessary
skills to establish an independent research program in genetics of Alzheimer’s and other
neurodegenerative diseases. Alzheimer’s disease (AD) is one of the leading causes of death in
the elderly, cannot be cured or prevented, and is projected to impose a huge socioeconomic
burden on our society by the middle of this century. Although significant efforts have been made
to uncover the genetics of earlier-onset AD, the genetic basis of more common late-onset form
of the disease awaits discovery. Thus, the overall objective of the current proposal is to identify
new genes and/or biochemical pathways for late-onset AD (LOAD) using haplotype-based
variant prioritization method developed by Dr. Nafikov and colleagues for pedigree-based
analysis. Because haplotypes can allow evaluation of the joint effects of multiple rare genetic
variants, recently implicated in complex diseases such as LOAD, the proposed analytical
approach will test the role of these variants in the disease development. First, haplotype-based
variant prioritization will be performed within already-defined linkage regions in families from the
AD Sequencing Project (ADSP). A list of potential AD risk variants will be prioritized further
using bioinformatics and omics integrative analyses. Second, replication analysis and
integration of findings in all available ADSP samples will be performed using haplotype
association analysis within genomic regions of interest in subgroups of the ADSP samples,
followed by possible meta analyses across subgroups. Dr. Nafikov’s research activities will
contribute to the following aims of the parent award: Aim 1: To fully characterize known AD loci
and to identify novel protective and risk variants for AD by exploiting the full range of genetic
variability revealed by WGS including single nucleotide polymorphisms, small
insertion/deletions, and structural variants and Aim 3: To functionally characterize genes, gene
networks, and systems, via bioinformatics and omics integrative analyses to identify putative
therapeutic targets. The training activities for this award will take place at the University of
Washington under the mentorship of Dr. Ellen Wijsman, who is internationally recognized
experts in Statistical and Human Genetics. Dr. Nafikov has a background in biochemistry and
statistics but will be trained in Human and Statistical Genetics. The training component of the
award will include participation in seminars, conferences, and workshops on Statistical
Genetics, Neurobiology, and Biology of Aging.
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## Key facts

- **NIH application ID:** 10247242
- **Project number:** 3U01AG058589-03S1
- **Recipient organization:** BOSTON UNIVERSITY MEDICAL CAMPUS
- **Principal Investigator:** ERIC A. BOERWINKLE
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $112,663
- **Award type:** 3
- **Project period:** 2018-09-30 → 2023-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10247242

## Citation

> US National Institutes of Health, RePORTER application 10247242, Therapeutic target discovery in ADSP data via comprehensive whole-genome analysis incorporating ethnic diversity and systems approaches (3U01AG058589-03S1). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10247242. Licensed CC0.

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