# Editing Alveolar Progenitor Cells for Correction of Monogenic Disease

> **NIH NIH U01** · CINCINNATI CHILDRENS HOSP MED CTR · 2020 · $1,266,687

## Abstract

PROJECT SUMMARY
 Interstitial Lung Diseases (ILDs), represent a large group of chronic pulmonary disorders that are
common causes of morbidity and mortality of both children and adults worldwide. Alveolar dysfunction,
pulmonary fibrosis, and vascular remodeling associated with chronic ILDs lead to progressive respiratory
failure for which they are few effective therapies. Both genetic and environmental factors underlie the
pathogenesis of ILDs; including smoking, air pollution, and chronic inflammation and genetic disorders.
Mutations in genes regulating surfactant homeostasis or alveolar type 2 (AT2) cell function or survival includes
ABCA3, SFTPB, SFTPC, SFTPA, Telomerase (and related genes) that cause respiratory failure in neonates,
children, and older individuals. Our PCTC Consortium seeks to develop novel strategies designed to use
CRISPR/CAS9 gene editing for lung progenitor cells for correction of a prototypic Childhood Interstitial Lung
Diseases (CHILD) disorder that disrupts pulmonary surfactant homeostasis (ABCA3 deficiency) that leads to
fatal infantile lung disease. Mutations in in the ABCA3 gene disrupts surfactant lipid and protein production
gene causing severe respiratory dysfunction after birth or chronic lung disease in infancy. We will apply
CRISPR/CAS9 mediated gene editing to correct ABCA3 in alveolar progenitor cells as disease targets
applicable to other genetic and acquired disorders affecting AT2 cells and their progenitors. The identification,
targeting and gene editing of alveolar AT2 cells and their progenitors will be widely applicable for the treatment
of both genetic and acquired diseases of the peripheral lung in the future.

## Key facts

- **NIH application ID:** 9953832
- **Project number:** 5U01HL134745-05
- **Recipient organization:** CINCINNATI CHILDRENS HOSP MED CTR
- **Principal Investigator:** Darrell N. Kotton
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $1,266,687
- **Award type:** 5
- **Project period:** 2016-09-23 → 2023-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9953832

## Citation

> US National Institutes of Health, RePORTER application 9953832, Editing Alveolar Progenitor Cells for Correction of Monogenic Disease (5U01HL134745-05). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9953832. Licensed CC0.

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