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Sheng Si, MD

Boston University

Research Project:
Determining Role of Genetic Mutation in Idiopathic Pulmonary Fibrosis

Grant Awarded:

  • Dalsemer Grant

Research Topic:

  • gene expression transcription

Research Disease:

  • pulmonary fibrosis

The genetic mutation called MUC5B rs35705950 single nucleotide polymorphism (SNP) is the single, strongest risk factor for the development of idiopathic pulmonary fibrosis (IPF), a serious disease that causes scarring in the lung. Yet, little is known about how this mutation contributes to IPF. Difficulty in obtaining primary lung cells from patients, genetic differences in such cells, and species-specific differences in lung biology of model organisms are all hurdles to understanding its role in IPF. Engineered lung cells from human induced pluripotent stem cells (iPSCs), safely and readily accessible, are an attractive alternative. We will establish a new patient-derived iPSC model system, aided by gene editing, to generate two sets of cells which are the same except for the risk SNP. Comparing these cells for differences at single-cell resolution may unveil the role of this significant IPF risk. 

Page last updated: May 2, 2024

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