# Genetic and Genomic Analysis of Arterial Dysplasia

> **NIH NIH R01** · UNIVERSITY OF MICHIGAN AT ANN ARBOR · 2021 · $694,228

## Abstract

Fibromuscular dysplasia (FMD) is a non-atheroslcerotic, systemic arteriopathy with excess burden on women.
FMD may have varying manifestations, including hypertension, stroke and myocardial infarction, among
others, depending on the arterial beds involved by arterial stenosis, aneurysm, dissection or tortuosity. Thus,
the clinical diagnosis of FMD encompasses a spectrum of arterial dysplasia phenotypes, and these may be
either sporadic or familial. Our proposed studies will test the hypothesis that this spectrum of FMD implicates a
limited number of genes and pathways, and a combined analysis of many cases, covering familial, sporadic,
pediatric and adult cases, using both genetic and gene expression data, is the best way to uncover recurrently
affected genes or convergent pathways. This hypothesis will be tested in three Specific Aims. Specific Aim 1:
We will conduct gene discovery analyses of FMD in a large clinical resource of diverse demographic and
phenotypic characteristics, in adult and pediatric cases of FMD, using both case-control approaches as well as
family-based analyses. Specific Aim 2: We will conduct follow-up studies of genes associated with FMD,
including studies of RNA expression in FMD and control arterial tissues and replication experiments in
additional, independent samples. Specific Aim 3: Using functional laboratory approaches, we will test the
cellular and arterial function of identified genes and variants relevant for arterial remodeling and dysplasia.
The analyses and experiments proposed in these Specific Aims will allow us to systematically uncover causal
DNA variants underlying FMD and to expand our knowledge of molecular defects driving arterial dysplasia.

## Key facts

- **NIH application ID:** 10135138
- **Project number:** 5R01HL139672-04
- **Recipient organization:** UNIVERSITY OF MICHIGAN AT ANN ARBOR
- **Principal Investigator:** SANTHI K GANESH
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $694,228
- **Award type:** 5
- **Project period:** 2018-01-01 → 2022-01-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10135138

## Citation

> US National Institutes of Health, RePORTER application 10135138, Genetic and Genomic Analysis of Arterial Dysplasia (5R01HL139672-04). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10135138. Licensed CC0.

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