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首页> 外文期刊>Indian journal of clinical biochemistry >Diseases and Molecular Diagnostics: A Step Closer to Precision Medicine
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Diseases and Molecular Diagnostics: A Step Closer to Precision Medicine

机译:疾病和分子诊断:向精密医学迈进的一步

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The current advent of molecular technologies together with a multidisciplinary interplay of several fields led to the development of genomics, which concentrates on the detection of pathogenic events at the genome level. The structural and functional genomics approaches have now pinpointed the technical challenge in the exploration of disease-related genes and the recognition of their structural alterations or elucidation of gene function. Various promising technologies and diagnostic applications of structural genomics are currently preparing a large database of disease-genes, genetic alterations etc., by mutation scanning and DNA chip technology. Further the functional genomics also exploring the expression genetics (hybridization-, PCR- and sequence-based technologies), two-hybrid technology, next generation sequencing with Bioinformatics and computational biology. Advances in microarray “chip” technology as microarrays have allowed the parallel analysis of gene expression patterns of thousands of genes simultaneously. Sequence information collected from the genomes of many individuals is leading to the rapid discovery of single nucleotide polymorphisms or SNPs. Further advances of genetic engineering have also revolutionized immunoassay biotechnology via engineering of antibody-encoding genes and the phage display technology. The Biotechnology plays an important role in the development of diagnostic assays in response to an outbreak or critical disease response need. However, there is also need to pinpoint various obstacles and issues related to the commercialization and widespread dispersal of genetic knowledge derived from the exploitation of the biotechnology industry and the development and marketing of diagnostic services. Implementation of genetic criteria for patient selection and individual assessment of the risks and benefits of treatment emerges as a major challenge to the pharmaceutical industry. Thus this field is revolutionizing current era and further it may open new vistas in the field of disease management.
机译:分子技术的当前出现以及多个领域的多学科相互作用导致了基因组学的发展,其主要致力于在基因组水平上检测致病事件。结构和功能基因组学方法现在已经指出了探索疾病相关基因以及识别其结构改变或阐明基因功能的技术挑战。结构基因组学的各种有前途的技术和诊断应用目前正在通过突变扫描和DNA芯片技术来准备疾病基因,遗传变异等的大型数据库。此外,功能基因组学还探索了表达遗传学(基于杂交,PCR和基于序列的技术),双杂交技术,具有生物信息学的下一代测序技术和计算生物学。随着微阵列“芯片”技术的发展,微阵列可以同时分析成千上万个基因的基因表达模式。从许多个体的基因组中收集的序列信息正在导致单核苷酸多态性或SNP的快速发现。基因工程的进一步发展也通过抗体编码基因的工程和噬菌体展示技术,彻底改变了免疫测定生物技术。生物技术在针对爆发或重大疾病反应需求的诊断分析方法的开发中起着重要作用。但是,还需要查明与生物技术工业的开发以及诊断服务的开发和销售所产生的遗传知识的商业化和广泛传播有关的各种障碍和问题。实施遗传标准以选择患者以及对治疗的风险和益处进行个体评估已成为制药行业的主要挑战。因此,该领域正在彻底改变当前时代,并且可能会在疾病管理领域开辟新的前景。

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