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Related Concept Videos

Microorganisms in Medicine and Therapeutics01:29

Microorganisms in Medicine and Therapeutics

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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.
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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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Related Experiment Video

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Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents
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Neuromuscular diseases: genomics-driven advances.

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
Summary

Genomic advances have identified over 600 neuromuscular diseases (NMDs), enabling earlier diagnoses and new gene therapies. Despite challenges like genetic complexity and cost, gene therapy offers hope for treating these rare conditions.

Keywords:
Gene therapyGenomicsNeuromuscular diseasesNext-generation sequencing (NGS)Rare genetic disorders

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Area of Science:

  • Genetics
  • Neurology
  • Rare Diseases

Background:

  • Neuromuscular diseases (NMDs) are rare, genetically complex disorders.
  • Historically, few NMDs had identified genetic causes.
  • Recent genomic advancements have significantly expanded our understanding.

Purpose of the Study:

  • To review the impact of genomic technologies on NMD diagnosis.
  • To highlight advancements in gene therapy for NMDs.
  • To discuss ongoing challenges and future directions in NMD management.

Main Methods:

  • Review of next-generation sequencing (NGS) technologies like whole-exome sequencing (WES) and whole-genome sequencing (WGS).
  • Analysis of gene therapy successes in specific NMDs, such as spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD).
  • Discussion of current challenges and emerging therapeutic strategies.

Main Results:

  • Over 600 NMDs now have identified genetic causes, a significant increase from pre-1990s.
  • NGS technologies have improved diagnostic precision and timeliness.
  • Gene therapies like nusinersen, onasemnogene abeparvovec, risdiplam, and delandistrogene moxeparvovec show transformative potential.

Conclusions:

  • Genomic technologies have revolutionized NMD diagnosis and understanding.
  • Gene therapy represents a major breakthrough in NMD treatment.
  • Continued research in gene therapy, RNA-based therapeutics, and personalized medicine is crucial for future progress.