# Clinical Genetics and Screening for Pulmonary Fibrosis

> **NIH NIH R01** · BRIGHAM AND WOMEN'S HOSPITAL · 2024 · $1,320,990

## Abstract

7. Project Summary
The primary goal of this proposal is to develop an effective approach to screening for
early stages of pulmonary fibrosis by assessing the diagnostic and prognostic value of
clinical, environmental, genetic and genomic factors in at-risk relatives of patients with
idiopathic pulmonary fibrosis (IPF). IPF, the most common and severe form of
pulmonary fibrosis has a mortality rate comparable to that of many end-stage
malignancies. Although IPF has historically been unresponsive to pharmacotherapy,
recent studies have finally demonstrated that medical therapy can reduce the rate of
decline in lung function, particularly when started early in the course of disease. In the
prior grant cycle of this application we demonstrated that first-degree relatives were at
high-risk to develop early stages of pulmonary fibrosis and that genetic testing helped to
improve risk prediction. Based on these findings, we hypothesize that we will continue to
observe a high prevalence of early pulmonary fibrosis in at-risk relatives; that we will be
able to develop a clinically useful screening algorithm that combines key clinical, genetic,
genomic, and environmental features for the early detection and prognostication of
interstitial lung abnormalities (ILA) and/or pulmonary fibrosis in populations of diverse
ethnic backgrounds; and that a subset of genes whose reduced expression predicts
accelerated disease progression harbor pathogenic variants that help to drive this
process. To assess these hypotheses, we propose the following Specific Aims: Aim 1)
Develop an algorithm that can be used in clinical practice to identify relatives at the
highest risk for pulmonary fibrosis, Aim 2) Prognosis: Define the baseline clinical,
genetic, and genomic features in relatives found to have ILA that best predict their risk of
disease progression, and 3) Identify novel genetic variants that contribute to pulmonary
fibrosis susceptibility using an integrative genomics approach. In addition to providing a
greater understanding of the role of that genetic variation plays in the development of
IPF, the results from this study will motivate a clinical trial evaluating the use of
screening and early therapeutic intervention in relatives at high-risk to develop IPF.

## Key facts

- **NIH application ID:** 10745986
- **Project number:** 5R01HL130974-07
- **Recipient organization:** BRIGHAM AND WOMEN'S HOSPITAL
- **Principal Investigator:** GARY MATTHEW HUNNINGHAKE
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $1,320,990
- **Award type:** 5
- **Project period:** 2016-01-01 → 2026-11-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10745986

## Citation

> US National Institutes of Health, RePORTER application 10745986, Clinical Genetics and Screening for Pulmonary Fibrosis (5R01HL130974-07). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10745986. Licensed CC0.

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