# Genetic and Genomic Characterization of the Occurrence and Progression of Interstitial Lung Abnormalities

> **NIH NIH R01** · BRIGHAM AND WOMEN'S HOSPITAL · 2020 · $800,376

## Abstract

7. Project Summary
The primary objective of this proposal is to characterize the genetic and genomic profiles
of those who develop, and progress from, early stages of pulmonary fibrosis (PF).
Idiopathic pulmonary fibrosis (IPF), the most common and severe form of PF, has a
mortality rate comparable to that of many end-stage malignancies. Despite advances in
medical therapy for IPF, it is becoming increasing recognized that further attempts to
improve outcomes for patients with IPF will need to additionally focus on preventing very
early, but detectable, stages of PF from progressing to the end-stages of PF that help to
define IPF. Recent evidence has demonstrated that research participants with particular
patterns chest CT abnormalities (termed interstitial lung abnormalities [ILA]) can have a
syndrome similar to that observed in IPF patients. Insights from this work include the fact
that although ILA are more prevalent (7-9% in adults > age 50) than IPF is reported to
be (0.002-0.04% of the population), research participants with ILA can have genetic
predictors noted in IPF patients, restrictive physiologic and exercise impairments,
radiologic progression, accelerated lung function decline, and an increased risk for
death. Based on these findings, we hypothesize that ILA, in some cases, represent and
early/mild stage of IPF which will result in a substantial overlap in the genetic and
genomic predictors between these two conditions. Furthermore, we hypothesize that
comprehensive genetic and genomic profiles of early/mild stages of PF, will not only
improve our understanding of early disease pathogenesis, but can also be translated
into clinical tests that will help to determine those who are at the greatest risk to develop,
and progress, from PF. To address these hypotheses we propose the following specific
aims: Aim 1) Can genetic profiles be identified in those who develop, and progress from,
early stages of PF? Aim 2) Can lung and peripheral blood genomic profiles be identified
in those who develop, and progress from, early stages of PF? And Aim 3) Can the
integration of clinical, as well as genetic and genomic data improve our understanding of
early disease pathogenesis, and enable early disease detection for, PF? The results of
these studies will improve our understanding of early disease pathogenesis in PF, as
well as setting the stage for trials aimed at the early institution novel and existing medical
therapies in those at risk for IPF.

## Key facts

- **NIH application ID:** 9982375
- **Project number:** 5R01HL135142-04
- **Recipient organization:** BRIGHAM AND WOMEN'S HOSPITAL
- **Principal Investigator:** MICHAEL H. CHO
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $800,376
- **Award type:** 5
- **Project period:** 2017-08-01 → 2022-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9982375

## Citation

> US National Institutes of Health, RePORTER application 9982375, Genetic and Genomic Characterization of the Occurrence and Progression of Interstitial Lung Abnormalities (5R01HL135142-04). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/9982375. Licensed CC0.

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