应用神经基因组学

Jain PharmaBiotech, Bläsiring 7, CH-4057 Basel, Switzerland.

Pharmacogenomics. 2001 May;2(2):143-52. doi: 10.1517/14622416.2.2.143.

Neurogenomics, the study of the genes of the nervous system, has applications in basic research, in the pharmaceutical industry and in the management of neurological disorders. Basic research applications include molecular neuropathology, the detection of genes for neurological disorders, the study of gene expression in the CNS and creation of transgenic models of neurological disorders. Pharmaceutical applications may be in the areas of molecular neuropharmacology, the discovery of new drugs for neurological disorders, gene therapy and the development of personalised medicines based on pharmacogenomics. Clinical applications in neurology include the redefinition and reclassification of diseases, molecular diagnostics and the integration of diagnostics with therapeutics. Various methods for the study of genes and gene expression are described. Genes have been identified for only a limited number of neurological disorders so far. The discovery of genes defective in neurological disorders would facilitate drug discovery, molecular diagnostics and gene therapy diseases. There is a trend towards the integration of diagnosis, genetic screening, prevention, treatment and monitoring of therapy of neurological disorders, which will be facilitated by neurogenomics. Pharmacogenomics-based personalised medicines are anticipated to be part of medical practice by the end of the first decade of the 21st century, and neurogenomics will contribute to the development of personalised medicines for diseases of the CNS.

神经基因组学，即对神经系统基因的研究，在基础研究、制药行业以及神经疾病管理方面均有应用。基础研究应用包括分子神经病理学、神经疾病基因检测、中枢神经系统基因表达研究以及神经疾病转基因模型的创建。制药应用可能涉及分子神经药理学领域、神经疾病新药研发、基因治疗以及基于药物基因组学的个性化药物开发。神经学临床应用包括疾病的重新定义和重新分类、分子诊断以及诊断与治疗的整合。文中描述了研究基因和基因表达的各种方法。到目前为止，仅发现了有限数量神经疾病的相关基因。发现神经疾病中的缺陷基因将有助于药物研发、分子诊断和基因治疗。神经疾病的诊断、基因筛查、预防、治疗及治疗监测呈现出整合的趋势，神经基因组学将推动这一趋势。预计到21世纪第一个十年末，基于药物基因组学的个性化药物将成为医疗实践的一部分，神经基因组学将为中枢神经系统疾病的个性化药物开发做出贡献。