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Related Concept Videos

CRISPR01:59

CRISPR

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Genome editing technologies allow scientists to modify an organism’s DNA via the addition, removal, or rearrangement of genetic material at specific genomic locations. These types of techniques could potentially be used to cure genetic disorders such as hemophilia and sickle cell anemia. One popular and widely used DNA-editing research tool that could lead to safe and effective cures for genetic disorders is the CRISPR-Cas9 system. CRISPR-Cas9 stands for Clustered Regularly Interspaced...
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The CRISPR-Cas system serves as a bacterial defense mechanism against invading genetic elements such as viruses and plasmids, forming the foundation for its adaptation as a powerful genome-editing tool. Originally discovered in prokaryotes, this system has been repurposed to revolutionize genetic engineering across a wide range of organisms, including plants, animals, and humans. The core component, Cas9, is an endonuclease derived from Streptococcus pyogenes, capable of introducing...
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Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
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Related Experiment Video

Updated: Nov 22, 2025

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Machine learning based CRISPR gRNA design for therapeutic exon skipping.

Wilson Louie1,2, Max W Shen3, Zakir Tahiry4

  • 1Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, Massachusetts, United States of America.

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|January 8, 2021
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Machine learning identifies effective CRISPR-Cas9 guide RNAs to induce exon skipping for genetic disorder therapies. This approach, SkipGuide, offers a potentially permanent treatment by disrupting splice sites and may reduce the need for frequent dosing.

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Generation of Genomic Deletions in Mammalian Cell Lines via CRISPR/Cas9
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Area of Science:

  • Genetics
  • Molecular Biology
  • Bioinformatics

Background:

  • Exon skipping is a strategy to restore gene function for genetic disorders.
  • Current oligonucleotide-based therapies are transient and require frequent administration.
  • CRISPR-Cas9 genome editing offers a potential for permanent exon skipping therapies.

Purpose of the Study:

  • To develop a machine learning method for selecting effective Cas9 guide RNAs to induce exon skipping.
  • To experimentally validate the efficacy of guide RNAs predicted by the machine learning model.
  • To provide a tool for advancing CRISPR-Cas9-mediated exon skipping therapies.

Main Methods:

  • Development of a machine learning model named SkipGuide to predict guide RNA efficacy.
  • Experimental screening of 791 splice sequences using 1,063 guide RNAs in mouse embryonic stem cells.
  • Measurement of exon skipping frequencies for diverse guide RNA and splice sequence combinations.

Main Results:

  • SkipGuide achieved a precision of 0.68 at a 50% exon skipping frequency threshold.
  • SkipGuide demonstrated a high precision of 0.93 at a 70% exon skipping frequency threshold.
  • The study experimentally validated the ability of selected guide RNAs to induce targeted exon skipping.

Conclusions:

  • Machine learning can effectively identify guide RNAs for CRISPR-Cas9-mediated exon skipping.
  • SkipGuide is a valuable tool for selecting guide RNA candidates for therapeutic development.
  • This approach holds promise for developing permanent genetic disorder treatments via exon skipping.