Understanding how certain gene mutations affect lung cell function in pulmonary fibrosis

Alveolar Epithelial Cell Dysfunction in Pulmonary Fibrosis: Leveraging SFTPC Mutations for Discovery of Molecular and Cellular Targets

NIH-funded research University of Pennsylvania · NIH-10979693

This study is looking at how certain genetic changes in a lung protein can cause problems in lung cells, which might help us understand idiopathic pulmonary fibrosis (IPF) better and find new ways to treat it for people living with this condition.

Quick facts

Grant typeR01 grant
Study typeNIH-funded research
Funding institutionUniversity of Pennsylvania NIH-funded
Lab location1 site (Philadelphia, United States)
Project IDNIH-10979693 on NIH RePORTER

What this research studies

This research investigates the role of specific genetic mutations in the Surfactant Protein C gene that lead to dysfunction in alveolar epithelial cells, which are crucial for lung health. By studying these mutations, the research aims to uncover the underlying mechanisms of idiopathic pulmonary fibrosis (IPF), a serious lung disease characterized by scarring and respiratory failure. The approach includes developing preclinical models to better understand how these mutations disrupt normal cell function and contribute to disease progression. Ultimately, the goal is to identify new therapeutic targets that could improve treatment options for patients with IPF.

Who could benefit from this research

Good fit: Ideal candidates for this research include individuals diagnosed with idiopathic pulmonary fibrosis, particularly those with identified mutations in the Surfactant Protein C gene.

Not a fit: Patients with pulmonary fibrosis not associated with genetic mutations in the Surfactant Protein C gene may not benefit from this research.

Why it matters

Potential benefit: If successful, this research could lead to new treatments that improve lung function and quality of life for patients with pulmonary fibrosis.

How similar studies have performed: Previous research has shown promise in understanding the role of genetic mutations in lung diseases, suggesting that this approach could yield valuable insights and potential breakthroughs.

Where this research is happening

Philadelphia, United States

Researchers

About this research

  1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
  2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
  3. For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Last reviewed 2026-06-15 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.