Identification of Novel Mutations In Pediatric Cancers

人类基因组计划已经鉴定、分类并排序了大约3万个人类基因中的大部分。近年来，随着下一代单分子测序仪的发展，对全基因组进行大规模平行测序的能力有所提高。据推测，在未来的2-5年内，用不到1000美元就能测序出整个人类基因组。通过协作网络，我的实验室已经存档了600个临床注释的神经母细胞瘤和100个横纹肌肉瘤肿瘤样本。通过生物信息学技术，我们正在识别所有已知的神经母细胞瘤和横纹肌肉瘤的靶点。我们正在使用微阵列和下一代儿童癌症基因组测序。我们的目标是确定可以靶向治疗高风险神经母细胞瘤、横纹肌肉瘤和其他目前尚无治疗方法的儿科癌症患者的激活突变。

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 >600 clinically annotated neuroblastoma, and >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.