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Related Concept Videos

CRISPR01:59

CRISPR

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 Short...
CRISPR and crRNAs02:53

CRISPR and crRNAs

Bacteria and archaea are susceptible to viral infections just like eukaryotes; therefore, they have developed a unique adaptive immune system to protect themselves. Clustered regularly interspaced short palindromic repeats and CRISPR-associated proteins (CRISPR-Cas) are present in more than 45% of known bacteria and 90% of known archaea.
The CRISPR-Cas system stores a copy of foreign DNA in the host genome and uses it to identify the foreign DNA upon reinfection. CRISPR-Cas has three different...
CRISPR01:59

CRISPR

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 Short...
CRISPR/Cas9 Genome Editing01:28

CRISPR/Cas9 Genome Editing

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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Related Experiment Video

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Generation of Genomic Deletions in Mammalian Cell Lines via CRISPR/Cas9
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Modeling MPPH syndrome in vivo using Breasi-CRISPR.

Claire M Kittock1, Krishna Karia2, Pratiksha Kc2

  • 1Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD 57104, USA; Sanford School of Medicine, University of South Dakota, Sioux Falls, SD 57105, USA.

HGG Advances
|August 25, 2025
PubMed
Summary

Breasi-CRISPR enables rapid in vivo modeling of neurodevelopmental disorders like MPPH syndrome. This technique accelerates the study of genetic variants by efficiently editing neural precursor cells in mouse brains.

Keywords:
CRISPR-CAS9MPPH syndromedisease modelinggenetic syndromein utero electroporationmalformation of cortical developmentneural developmentneurogenesis

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Genetic testing identifies novel variants in neurodevelopmental disorders.
  • Current methods for variant functional analysis lack either speed or physiological accuracy.
  • A need exists for rapid, in vivo methods to study neurodevelopmental disorder variants.

Purpose of the Study:

  • To evaluate Breasi-CRISPR (Brain Easi-CRISPR) for rapid in vivo modeling of monogenic neurodevelopmental disorders.
  • To assess the efficiency of Breasi-CRISPR in studying megalencephaly postaxial polydactyly polymicrogyria hydrocephalus (MPPH) syndrome.

Main Methods:

  • Utilized Breasi-CRISPR for efficient genome editing of neural precursor cells in vivo.
  • Electroporated CRISPR-Cas9 reagents into developing mouse brains.
  • Analyzed neurodevelopmental phenotypes 2 days post-editing.

Main Results:

  • Breasi-CRISPR rapidly induced MPPH syndrome phenotypes in vivo.
  • Observed increased cyclin D2 protein and neural progenitor proliferation.
  • Demonstrated efficient modeling of MPPH syndrome within 2 days.

Conclusions:

  • Breasi-CRISPR is an efficient and rapid technique for in vivo modeling of neurodevelopmental disorders.
  • This method accelerates the functional analysis of patient-derived variants.
  • Breasi-CRISPR offers a powerful new tool for neurodevelopmental disorder research.