Identification of Novel Mutations In Pediatric Cancers

人类基因组计划已经对大约30,000个人类基因中的大部分进行了识别、分类和测序。最近，随着下一代测序仪和单分子测序仪的发展，对整个基因组进行大规模并行测序的能力有所提高。据推测，在接下来的2-5年内，以不到1000美元的价格对整个人类基因组进行测序将是可能的。通过协作网络，我的实验室已经存档了600多个带有临床注释的神经母细胞瘤肿瘤样本。通过生物信息学技术，我们正在识别神经母细胞瘤中所有已知的靶点。我们正在使用微阵列和其他基因组方法分离神经母细胞瘤基因组的相关部分，并在100多个样本中对200多个基因进行测序。我们的目标是确定激活的突变，这些突变可以作为高危神经母细胞瘤患者的靶向治疗，目前还没有可用的治疗方法。

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.