Novel Mutations and Therapy Resistance Mechanisms in Pediatric Cancers

Division Of Basic Sciences - Nci

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Abstract

The human genome project has identified categorized and sequenced most of the 30,000 or so human genes. Recently the ability to perform massively parallel sequencing of the whole genome has increased with the development of next generation and single molecule sequencers. It is speculated that within the next 2-5yrs it will be possible to sequence whole human genomes for under $1000. Through collaborative networks my lab has archived over 600 clinically annotated neuroblastoma, and over 100 rhabdomyosarcoma tumor samples. By bioinformatic techniques we are identifying all know targets in neuroblastoma and rhabdomyosarcoma. We are using microarray and next generation sequencing of the pediatric cancer genome. Our goal is to identify activating mutations that can be targeted for therapy in patients with high risk neuroblastoma, rhabdomyosarcoma, and other pediatric cancers for which there is no currently available therapy. Another goal is to utilize gene modification studies such as genome wide CRISPR studies and genomics to identify mechanism of resistance and synergistic combinations to drugs or immune therapy.