Jove
Visualize
联系我们

相关概念视频

Microorganisms in Medicine and Therapeutics01:29

Microorganisms in Medicine and Therapeutics

1
Microorganisms play a fundamental role in vaccine development, gene therapy, and therapeutic production. Their biological properties are harnessed to advance medicine and public health. Beyond immunization, microorganisms contribute to gut health, antibiotic synthesis, and genetic disease treatment.Live Attenuated and Inactivated VaccinesLive attenuated vaccines, such as the measles, mumps, and rubella (MMR) vaccine, utilize weakened forms of pathogens to closely resemble natural infections.
1
Genomics02:02

Genomics

35.9K
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...
35.9K

您也可能阅读

相关文章

通过共同作者、期刊和引用图与本文相关的文章。

排序
Same author

Inhibiting EZH2 complements steroid effects in Duchenne muscular dystrophy.

Science advances·2025
Same author

Phenotype of Relapsing Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease in Children.

Journal of clinical neurology (Seoul, Korea)·2025
Same author

Enhancing Clinical History Taking Through the Implementation of a Streamlined Electronic Questionnaire System at a Pediatric Headache Clinic: Development and Evaluation Study.

JMIR medical informatics·2024
Same author

Hereditary Leiomyomatosis and Renal Cell Cancer: A Case Report of Pilar Leiomyomatosis with History of Kidney Cancer and Review of the Literature.

Annals of dermatology·2023
Same author

Variations of Resting-State EEG-Based Functional Networks in Brain Maturation From Early Childhood to Adolescence.

Journal of clinical neurology (Seoul, Korea)·2022
JoVE
x logofacebook logolinkedin logoyoutube logo
关于 JoVE
概览领导团队博客JoVE 帮助中心
作者
出版流程编辑委员会范围与政策同行评审常见问题投稿
图书馆员
用户评价订阅访问资源图书馆顾问委员会常见问题
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experiments存档
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教师资源中心教师网站
使用条款与条件
隐私政策
政策

相关实验视频

Updated: Jun 6, 2025

Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents
06:51

Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents

Published on: August 10, 2018

7.6K

神经肌肉疾病:基因组学驱动的进展

Anna Cho1,2

  • 1Department of Pediatrics, Seoul National University Bundang Hospital, 82, Gumi-ro, 173beon-gil, Bundang-gu, Seongnam-si, Gyeonggi-do, 13620, Republic of Korea. annacho77@snu.ac.kr.

Genomics & informatics
|November 27, 2024
PubMed
概括

基因组学的进步已经确定了600多种神经肌肉疾病 (NMD),使得早期诊断和新的基因疗法成为可能. 尽管存在遗传复杂性和成本等挑战,基因疗法为治疗这些罕见疾病提供了希望.

关键词:
基因治疗是一种基因疗法.基因组学就是基因组学.神经肌肉疾病 神经肌肉疾病下一代测序 (NGS) 是指下一代的测序.罕见的遗传疾病 罕见的遗传疾病

更多相关视频

Engineering and Characterization of an Optogenetic Model of the Human Neuromuscular Junction
11:07

Engineering and Characterization of an Optogenetic Model of the Human Neuromuscular Junction

Published on: April 14, 2022

2.3K
Generation of Human Motor Units with Functional Neuromuscular Junctions in Microfluidic Devices
10:48

Generation of Human Motor Units with Functional Neuromuscular Junctions in Microfluidic Devices

Published on: September 7, 2021

4.6K

相关实验视频

Last Updated: Jun 6, 2025

Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents
06:51

Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents

Published on: August 10, 2018

7.6K
Engineering and Characterization of an Optogenetic Model of the Human Neuromuscular Junction
11:07

Engineering and Characterization of an Optogenetic Model of the Human Neuromuscular Junction

Published on: April 14, 2022

2.3K
Generation of Human Motor Units with Functional Neuromuscular Junctions in Microfluidic Devices
10:48

Generation of Human Motor Units with Functional Neuromuscular Junctions in Microfluidic Devices

Published on: September 7, 2021

4.6K

科学领域:

  • 遗传学 是一个遗传学.
  • 神经学 神经学
  • 罕见疾病 罕见疾病

背景情况:

  • 神经肌肉疾病 (NMDs) 是一种罕见的,遗传复杂的疾病.
  • 从历史上看,很少有NMD确定了遗传原因.
  • 最近的基因组学进展显著扩大了我们的理解.

研究的目的:

  • 审查基因组技术对NMD诊断的影响.
  • 为了突出基因疗法对NMDs的进展.
  • 讨论NMD管理中的持续挑战和未来方向.

主要方法:

  • 审查下一代测序 (NGS) 技术,如全外体测序 (WES) 和全基因组测序 (WGS).
  • 对基因疗法的分析在特定的NMD中取得了成功,例如脊髓肌缩 (SMA) 和杜申肌缩 (DMD).
  • 讨论当前的挑战和新兴的治疗策略.

主要成果:

  • 现在已有600多种NMD已经确定了遗传原因,比1990年代前显著增加.
  • NGS技术提高了诊断的准确性和及时性.
  • 像nusinersen,onasemnogene abeparvovec,risdiplam和delandistrogene moxeparvovec这样的基因疗法显示出改变的潜力.

结论:

  • 基因组技术已经彻底改变了NMD的诊断和理解.
  • 基因疗法代表了NMD治疗的重大突破.
  • 对基因治疗,基于RNA的疗法和个性化医学的持续研究对于未来的进步至关重要.