Publications by authors named "Jessica L Mantegna"
Programmable DNA endonucleases derived from bacterial genetic defense systems, exemplified by CRISPR-Cas9, have made it significantly easier to perform genomic modifications in living cells. However, unprogrammed, off-target modifications can have serious consequences, as they often disrupt the function or regulation of non-targeted genes and compromise the safety of therapeutic gene editing applications. High-fidelity mutants of Cas9 have been established to enable more accurate gene editing, but these are typically less efficient.
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- - The study focuses on using genomic sequencing to uncover novel genetic variants in congenital heart disease (CHD) patients, specifically a variant of uncertain significance (VUS) in the GATA4 gene, which requires functional analysis to determine its impact on disease.
- - Researchers used CRISPR gene editing on induced pluripotent stem cells (iPSCs) to create a model for studying the effects of the GATA4 VUS, comparing the genetic variant cells with healthy controls through cardiomyocyte differentiation experiments.
- - Results showed that the variant cardiomyocytes exhibited abnormal gene expression related to cardiac function and altered electrical activity, supporting the idea that the VUS could have damaging effects, while also demonstrating an effective method for assessing
The ability to alter the genomes of living cells is key to understanding how genes influence the functions of organisms and will be critical to modify living systems for useful purposes. However, this promise has long been limited by the technical challenges involved in genetic engineering. Recent advances in gene editing have bypassed some of these challenges but they are still far from ideal.
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