April 23, 2024
Pulmonary Fibrosis

Unraveling the Genetic Mysteries of Pulmonary Fibrosis

A groundbreaking study led by researchers from the Translational Genomics Research Institute (TGen) sheds new light on the genetics of pulmonary fibrosis (PF), a devastating respiratory disease with no known cure. Published in Nature Genetics, the study delves into the role of gene regulation in the development of PF on a cellular level within lung tissue.

Pulmonary fibrosis is a progressive lung disease that often leads to death or the need for a lung transplant within a few years. While there are limited treatment options available, researchers have been striving to understand the genetic factors that contribute to the risk of developing PF and how these variations manifest in the disease’s biology.

Dr. Nicholas Banovich, an associate professor at TGen, highlighted the importance of understanding the molecular mechanisms underlying PF to develop targeted therapeutics. By studying lung tissue samples from individuals with and without PF, the researchers identified genetic variations known as expression quantitative trait loci (eQTL) that regulate gene expression in different cell types within the lung.

Traditionally, studies on gene expression in the lung have provided a broad view, but this study focused on mapping eQTL across 38 specific cell types in the lung, revealing cell type-specific variations associated with PF. The researchers found that eQTL linked to PF risk were prominent in epithelial cells lining the lungs and airways, indicating their critical role in the development of the disease.

Dr. Jonathan Kropski from Vanderbilt University Medical Center emphasized the complexity of the human lung, comprising diverse cell types with distinct functions, making it an ideal candidate for studying genetic control of gene regulation. The findings from this study pave the way for a better understanding of the underlying mechanisms of PF and the development of targeted therapies.

The success of this collaborative effort between TGen, St Vincent’s Institute of Medical Research, and Vanderbilt University Medical Center underscores the importance of integrating clinical, genomic, and computational research for unraveling the genetic mysteries of pulmonary fibrosis.

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