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个临床注释的神经母细胞瘤和100个横纹肌肉瘤样本。通过生物信息学技术，我们正在确定神经母细胞瘤和横纹肌肉瘤的所有已知靶点。我们正在使用微阵列和下一代儿科癌症基因组测序。我们的目标是确定激活的突变，这些突变可以靶向治疗高危神经母细胞瘤、横纹肌肉瘤和其他目前没有可用的治疗方法的儿童癌症。