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Title: Comprehensive Knowledge Generation for Radiology and Genetics of Interstitial Lung Diseases ILDs
Researcher: Mishra, Samriti
Guide(s): Ramana, Jayashree
Keywords: Life Sciences,Molecular Biology and Genetics,Genetics and Heredity
University: Jaypee University of Information Technology, Solan
Completed Date: 2019
Abstract: Interstitial lung diseases (ILDs) are the diverse group of about 200 pulmonary disorders (acute and chronic), which can cause inflammation and/or fibrosis to variable extent. ILDs cases are linked with considerable morbidity and mortality due to the delayed diagnosis or misdiagnosis. Clinical symptoms and radiological tests such as 2D chest radiograph (CXR) and 3D high resolution computed tomography (HRCT) hold more promises in developing countries due to their availability. Previous studies revealed the potential roles of genetic alterations of disease candidate genes (DCGs) in association with miRNAs and/or SNPs in ILDs pathogenesis. The non-coding RNAs, especially long-noncoding RNAs (lncRNAs) and micro RNAs (miRNAs) work as regulatory molecules, which are important for disease diagnostics and/or monitoring. The cross-regulation between these molecules for competing-endogenous RNAs (ceRNAs) activity is also important in ILDs pathogenesis. In the first objective of this research work, the focus has been given to the radiological assessment of ILDs to facilitate effective diagnosis through comparative analysis of clinical and radiological patterns. A comprehensive web-based resource of ILDs (ILD-DB) has been established for the radiological assessment of ILDs. Radiological (HRCT and CXR) and clinical profiles, and follow-up data from eleven ILD-subtypes including, a rare disease, pulmonary alveolar microlithiasis (PAM) were anonymized and incorporated. Dominant radiological patterns and the most reported diseases mainly from North-Western Himalayan region are presented in this study. All the data is freely accessible as a public repository in the healthcare domain ( This study would be beneficial for characterizing new-onset ILDs, benchmarking of referral dataset, image processing algorithm development and radiological training. In the second objective, the first genetic knowledgebase of ILDs, ILDgenDB, is developed to provide ILDs associated genes, their genomic information, and integrated analyses. This resource would help to identify the role of genetics in disease pathogenesis and identification of diagnostics-based biomarkers. The catalog of DCGs along with associated regulatory molecules and processes are produced using an integrated pipeline of literature curation, databases searches and In-silico bioinformatics analyses. The DCGs association with SNPs, miRNAs and pathways involved in ILDs and/or its subtypes pathogenesis are also provided. These integrated analyses recommended that defense mechanisms and immune system are potentially involved in ILDs pathogenesis. This knowledge can assist in genomic level disease diagnosis and monitoring. ILDgenDB is publicly available at In the third objective, the role of ncRNAs as therapeutic/biomarker targets is investigated. The ncRNAs (miRNAs and lncRNAs) with higher interactions to target DCGs, biological pathways and ceRNAs are proposed as potential candidate biomarkers. This study suggested the potential role of ncRNAs and their target interactions in disease pathogenesis and may serve asless/non-invasive molecular biomarkers for ILDs diagnosis and monitoring. All the studies have been performed to address the current limitations in the diagnostics and therapeutics of the ILDs. This work may assist researchers, pulmonologists and radiologists working for the improvement in the diagnostics and therapeutics of ILDs. newline
Pagination: x, 95p.
Appears in Departments:Department of Bioinformatics

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01_title.pdfAttached File57.03 kBAdobe PDFView/Open
02_declaration.pdf155.29 kBAdobe PDFView/Open
03_certificate.pdf202.17 kBAdobe PDFView/Open
04_aknowledgement.pdf202.73 kBAdobe PDFView/Open
05_contents.pdf204.21 kBAdobe PDFView/Open
06_list_of_abbriviation_tables_figures.pdf207.89 kBAdobe PDFView/Open
07_chapter_1.pdf1.83 MBAdobe PDFView/Open
08_chapter_2.pdf2.06 MBAdobe PDFView/Open
09_chapter_3.pdf2.51 MBAdobe PDFView/Open
10_chapter_4.pdf855.4 kBAdobe PDFView/Open
11_conclusion_and_future_work.pdf312.1 kBAdobe PDFView/Open
12_references.pdf332.75 kBAdobe PDFView/Open
13_publications.pdf268.32 kBAdobe PDFView/Open

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