Identification of Novel Mutations In Pediatric Cancers

儿童癌症新突变的鉴定

• 批准号: 8763297
• 负责人: Javed Khan
• 金额: $ 132.62万
• 依托单位: DIVISION OF BASIC SCIENCES - NCI
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/8763297
• 关键词: Archives; Area; Bioinformatics; Development; Equipment; Gene Expression Profile; Genes; Genome; Genomics; Germ Lines; Goals; Human; Human Genome; Human Genome Project; Malignant Childhood Neoplasm; Malignant Neoplasms; Mutate; Mutation; Neuroblastoma; Patients; Rhabdomyosarcoma; Sampling; Techniques; Validation; cancer genome; design; exome; high risk; next generation; next generation sequencing; novel; single molecule; tumor

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.

人类基因组计划已经确定了大约30，000个人类基因中的大部分，并对其进行了分类和测序。最近，随着下一代和单分子测序仪的发展，对全基因组进行大规模并行测序的能力已经增加。据推测，在未来2- 5年内，将有可能以低于1000美元的价格对整个人类基因组进行测序。通过合作网络，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，我们正在确定所有已知的神经母细胞瘤和横纹肌肉瘤的目标。我们正在使用微阵列和儿科癌症基因组的下一代测序。我们的目标是确定激活突变，可以有针对性的治疗高风险的神经母细胞瘤，横纹肌肉瘤，和其他儿科癌症的患者，目前没有可用的治疗。