Frontiers in Oncology: Elaine Mardis, PhD
"Genomics-guided Pediatric Precision Medicine," presented by Elaine Mardis, PhD. She is co-Executive Director of the Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital and holds the Rasmussen Nationwide Foundation Endowed Chair of Genomic Medicine. She also is Professor of Pediatrics at The Ohio State University College of Medicine. #genomics #cancer #pediatrics
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0:00 Introduction
0:04 Sanford Cancer Institute Presents Frontiers in Oncology
2:00 Cancer is a Disease of the Genome
3:13 Pediatric Cancer Survivorship: The Challenge
6:56 IGM Cancer Protocol: Genomic Profiling
9:18 AWS-based Computational Analyses
11:00 The Treehouse Initiative: UCSC Treehouse
11:30 Gene Expression Outlier Analysis
13:22 Ensemble Fusion Detection Pipeline
15:07 ITD Detection with Cicero
17:06 Summary of Sequenced Cases (n=267)
18:49 Summary of Patient Cases
20:16 JL-36: Indeterminate Diagnosis and Novel Fusion
21:25 JL-36: Novel EP300-BCOR fusion
22:03 BCOR alterations in CNS tumors
22:43 Evidence Supporting the EP300-BCOR Fusion Driver
23:26 EGFR over-expression in EP300-BCOR Fusion
25:08 JL 36: Increased Immune Infiltration in Recurrent Tumor by IHC
25:45 Increased immune infiltration correlates to increased neoantigen load
27:13 Case History: Recurrent Glioblastoma
28:10 Germline and Somatic Profiles Germline analysis mutations within the MMR or polymerase epsilon genes
29:23 Ultra-mutated Glioblastoma
31:17 CH153: Comparison of Pathology and RNAseq Deconvolution in Ultramutated Glioblastoma
34:49 Three Murine Models of Medulloblastoma
37:46 CNS Cancer Clinical Trial Concept
41:11 Acknowledgements
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