In an article published in Clinical and translational science, researchers have reported that with the help of genomic science, knowledge of the diagnosis and treatment of human conditions have increased. It helps us in knowing the role of genes and their networks in the development of diseases. Genomic science also helped in understanding of idiopathic pulmonary fibrosis (IPF), which is a chronic, progressive and disturbing scarring of the lung parenchyma, and whose cause and treatment still need further studies. Research in genomic science has helped in making diagnosis and prognosis of the disease, and potential biomarkers for the assessment of the disease can be identified with the help of gene expression profiling of peripheral blood (Kass & Kaminski, 2011). In recently conducted genetic studies, it has been found that a common promoter polymorphism in the mucin 5B gene (MUC5B) is associated with IPF (Putman, Rosas, & Hunninghake, 2014). A genome-wide association study shows that variants in SPPL2C and TOLLIP are related to IPF susceptibility (Noth et al., 2013). Rare variants in genes for telomerase components and surfactant proteins have also been reported in IPF (Blackwell et al., 2014)
In the paper, researchers have also discussed the epigenetic approach in the study of IPF along with the contribution of microRNAs to the development of disease (Kass & Kaminski, 2011). Other researchers also suggest other “omics” such as analysis of noncoding and coding RNA, microbiome, and the epigenome could help in making significant advances in the treatment of IPF (Blackwell et al., 2014). Researchers from the present study are of opinion that full potential of genomic research can only be achieved by collaborative studies on large scale, and by training young researchers in the field of genomics (Kass & Kaminski, 2011).
References
Blackwell, T. S., Tager, A. M., Borok, Z., Moore, B. B., Schwartz, D. A., Anstrom, K. J., . . . Bradford, W. (2014). Future directions in idiopathic pulmonary fibrosis research. An NHLBI workshop report. American journal of respiratory and critical care medicine, 189(2), 214-222.
Kass, D. J., & Kaminski, N. (2011). Evolving genomic approaches to idiopathic pulmonary fibrosis: moving beyond genes. Clinical and translational science, 4(5), 372-379.
Noth, I., Zhang, Y., Ma, S.-F., Flores, C., Barber, M., Huang, Y., . . . Scuirba, J. (2013). Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study. The Lancet Respiratory Medicine, 1(4), 309-317.
Putman, R. K., Rosas, I. O., & Hunninghake, G. M. (2014). Genetics and early detection in idiopathic pulmonary fibrosis. American journal of respiratory and critical care medicine, 189(7), 770-778.