Identification of Novel Mutations In Pediatric Cancers

儿童癌症新突变的鉴定

• 批准号: 7733402
• 负责人: Javed Khan
• 金额: $ 45.31万
• 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/7733402
• 关键词: Archives; Area; Arts; Bioinformatics; Development; Equipment; Genes; Genome; Genomics; Goals; Human; Human Genome; Human Genome Project; Malignant Childhood Neoplasm; Methods; Mutate; Mutation; Neuroblastoma; Patients; Risk; Sampling; Techniques; Validation; design; genome sequencing; next generation; novel; research study; 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 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.

人类基因组计划已经确定了30，000或30，000个中的大部分， 所以人类基因。最近，对整个基因组进行大规模并行测序的能力 随着下一代和单分子测序仪的发展，基因组的数量增加。 据推测，在未来2- 5年内，将有可能对整个人类进行测序。 基因组的价格低于1000美元。通过协作网络，我的实验室已经存档了600多个 临床注释的神经母细胞瘤肿瘤样品。通过生物信息学技术， 找出神经母细胞瘤的所有已知目标我们正在使用微阵列和其他基因组 分离神经母细胞瘤基因组相关部分并对200多个 在100多个样本中进行了初步实验。我们的目标是找出 可以靶向治疗高危神经母细胞瘤患者的突变， 目前没有可用的治疗方法。