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相关概念视频

Combination Therapies and Personalized Medicine02:50

Combination Therapies and Personalized Medicine

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Combining two or more treatment methods increases the life span of cancer patients while reducing damage to vital organs or tissue from the overuse of a single treatment. Combination therapy also targets different cancer-inducing pathways, thus reducing the chances of developing resistance to treatment.
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
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Genomics02:02

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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Human Genetics01:28

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...
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相关实验视频

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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使用基因组学开发个性化心血管治疗方法

Mihir M Sanghvi1,2,3, William J Young1,2,3, Hafiz Naderi1,2,3

  • 1William Harvey Research Institute (M.M.S., W.J.Y., H.N., R.B., J.R., C.G.B., P.B.M.), Queen Mary University of London, United Kingdom.

Arteriosclerosis, thrombosis, and vascular biology
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概括

基因组技术正在通过实现个性化医疗来彻底改变心血管疾病的护理. 基因洞察力改善了诊断,风险预测和治疗,基因疗法提供了潜在的治疗方法.

关键词:
心血管疾病心血管疾病遗传风险评分 遗传风险评分基因疗法的基因治疗.全基因组关联研究研究.药物基因组学 药物基因组学

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科学领域:

  • 心血管医学 心血管医学
  • 基因组学就是基因组学.
  • 个性化医疗是个性化的医疗.

背景情况:

  • 基因组技术提高了对心血管疾病 (CVD) 原因的理解,包括单基因和多基因因素.
  • 基因组信息越来越多地被纳入用于心血管疾病管理的临床实践.

研究的目的:

  • 审查基因组信息在个性化心血管疾病管理中的应用.
  • 突出基因组数据如何帮助诊断,查,风险预测和心血管疾病治疗策略.

主要方法:

  • 关于心血管医学中基因组技术的当前文献的综述.
  • 讨论全基因组关联研究 (GWAS) 和多基因风险评分 (PRS).
  • 在心血管疾病中探索药物基因组学和基因疗法应用.

主要成果:

  • 基因组数据可以解决诊断不确定性,并促进对遗传性心血管疾病的级联查.
  • 全基因组关联研究已经确定了与多基因心血管疾病相关的众多遗传变异.
  • 多基因风险评分提高了个性化风险预测,药物基因组学指导了更安全的药物选择.

结论:

  • 基因组方法正在将心血管疾病管理转变为个性化医疗.
  • 药物基因组学和基因疗法代表了显著的进步,有可能改善患者的治疗结果和治疗干预措施.