Genomic Driven Approach to Identify Molecular Biomarkers and Therapeutic Targets for Glioblastoma

GBM is the prototypical disease where future therapies will likely depend on establishing a male or female patient’s genotype and proteomic profile using robust biomarkers. Thus, it is expected that one or several pathognomonic biomarkers will provide information that will help clinicians diagnose and treat patients. This project is focused on to design an NGS based bioinformatics pipeline assay for combined mutation and somatic copy number alterations (SCNAs) analysis of GBMs and will link genomic biomarkers to patient response to SOC therapy. First low-coverage whole-genome sequencing (WGS) will be performed. Based on the observed frequency of SCNAs, a GBM specific PCR amplicon-based targeted re-sequencing assay for mutation and SCNAs will be developed. Later, a broad bioinformatics platform to enable NGS analysis supporting both mutation and SCNA data will be developed. Research Outputs and Exploitation: i) Develop and validate a mutation and SCNA anaylsis pipeline that can broadly used starting from targeted re-sequencing assays in heterogenous tumours such as GBM. ii) Develop prototype GBM clinical treatment decision assays covering mutation/SCNAs.