Identification of Novel Mutations In Pediatric Cancers

点击翻译按钮获取中文摘要

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 withing the next 2-5yrs it will be possible to sequence whole human genomes for under $1000. Through collaborative networks my lab has archived more than 600 clinically annotated neuroblastoma tumor samples. By bioinformatic techniques we are identifying all know targets in neuroblastoma. We are using microarray and other genomic methods to isolate relevant portions of the neuroblastoma genome and sequence more than 200 genes in more than 100 samples in a pilot experiment. Our goal is to identify activating mutations that can be targeted for therapy in patients with high risk neuroblastoma for which there is no currently available therapy.