Identification and validation of novel gene-gene fusions as biomarkers for early diagnosis of cancers and complex diseases using Liquid Biopsy

Fusion or chimeric transcripts are a result of fusions of exons or introns from two different genes. These fusion transcripts can be generated by mechanisms such as cis-splicing, trans-splicing, and chromosomal aberrations. Over the years, these fusion transcripts were discovered to be biomarkers and therapeutic targets in cancers. Thus, identifying and validating fusion transcripts from cancers and complex diseases will aid in precision medicine. Liquid biopsy is a non-invasive diagnostic technique with an exciting potential for real-time molecular profiling of patients. This approach includes the analysis of circulating nucleic acids that are shed from primary tumors and their metastatic sites into peripheral blood. In this study, we intend to validate identified fusions in glioblastoma using several methods. Following the successful validation of my proposed study, we will be able to develop a new efficient approach for enabling the use of fusion genes as novel biomarkers in brain cancers as well as for other types of cancers. Furthermore, we will use the liquid biopsy technique to follow patients` response to therapy by measuring cfDNA levels at different time points, as well as investigate the effect of therapeutic intervention on the cfDNA in cancer cell line medium. The future aspects of these findings can be used for novel drug targets and precision medicine for cancer patients to improve the patient’s survival outcomes.