# Novel Quantitative Emphysema Subtypes in MESA and SPIROMICS

> **NIH NIH R01** · COLUMBIA UNIVERSITY HEALTH SCIENCES · 2020 · $725,923

## Abstract

Chronic obstructive pulmonary disease (COPD) and emphysema, jointly, are the fourth leading cause of death
in the US and globally. Decades of research have not found disease-modifying therapies except for a1
antitrypsin deficiency, a rare disease found by improved phenotyping, characterized by a specific emphysema
subtype and caused by gene variants in SERPINA1. This renewal builds on the successful discovery of six
new quantitative emphysema subtypes (QES), which were associated independently with greater symptoms,
impaired function and increased mortality in addition to several genome-wide significant associations for gene
variants. In the renewal, we propose to leverage over 27,000 CTs acquired over 5-7 years of follow-up from
4,500 highly phenotyped and genotyped participants to test if deep and unsupervised learning on new state-of-
the-art CTs and CT angiograms will reveal additional deep-learned and molecular QES that suggest
mechanistic pathways to treatment. Further, we will collect 60 explanted lungs and use state-of-the art
microCT to test if QES have distinct histology and structure. Finally, we will recruit 100 patients undergoing
lung cancer CT screening to test if QES will be translatable to clinical low-dose lung cancer screening CT
scans acquired on contemporary scanners. Successful completion of these aims will discover new deep QES
and molecular QES and validate and translate QES to further subphenotype emphysema and facilitate testing
of personalize molecular therapies and, hopefully, replicate the success of therapy for a1-antitrypsin deficiency
for more common emphysema subtypes.

## Key facts

- **NIH application ID:** 9927683
- **Project number:** 5R01HL121270-06
- **Recipient organization:** COLUMBIA UNIVERSITY HEALTH SCIENCES
- **Principal Investigator:** R Graham BARR
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $725,923
- **Award type:** 5
- **Project period:** 2014-08-01 → 2023-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9927683

## Citation

> US National Institutes of Health, RePORTER application 9927683, Novel Quantitative Emphysema Subtypes in MESA and SPIROMICS (5R01HL121270-06). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9927683. Licensed CC0.

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