Gene Modification: Means of Disease Prevention

Introduction

This research was motivated by the observation of a faulty mutant MYBPC3 gene copy causing a lethal heart disease in people who have inherited it. Since the nature of the disorder is genetical, it was assumed gene modification with the use of the Cas9 enzyme would allow for a complete prevention of the disease (Saey, 2017). The purpose of the project was to establish whether editing the genes of an embryo affected by the MYBPC3 mutation with the CRISPR molecular scissors would allow the organism to avert developing hypertrophic cardiomyopathy. The questions addressed refer to the ethics of gene modification in humans, the possibility of a major advancement in the prevention of all genetical diseases, and the further improvement of the methodology. The hypothesis of this research suggests that gene modification could potentially cease the occurrence of any genetical disease in humans.

Experimentation and Collection of Data

Researchers tested injecting sperm containing the flawed gene into healthy female eggs without the gene mutation. After that, they inserted the molecular scissors to modify the genes — the Cas9 enzyme, a chunk of RNA to designate the incision location, and a set of DNAs to instruct the recovery of the cut. Upon yielding insufficient results from the first attempt, the process was modified to have the Cas9 enzyme injected simultaneously with sperm in order to cut the defective gene.

Data Interpretation and Evaluation

The first attempt of the experiment resulted in 13 out of 54 injected embryos to still possess the mutant gene. However, the final step allowed the researchers to achieve a much higher quantity of corrected genes, with only one flawed embryo occurring. It was learned from this research that proper gene modification with the use of the CRISPR/Cas9 molecular scissors allowed the researchers to vastly reduce the number of mutant genes, increasing the chances of hypertrophic cardiomyopathy prevention (Saey, 2017). The main points of the research is the future study of the gene modification technology in order to permit its usage in humans and the potential medical advancement of preventing all genetical diseases. Lastly, the ethical question of editing a human embryo and introducing changes to it is also presented as a vital topic.

Reference

Saey, T. (2017). Molecular scissors fix disease-causing flaw in human embryos. Science News for Students. 

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StudyCorgi. "Gene Modification: Means of Disease Prevention." April 8, 2022. https://studycorgi.com/gene-modification-means-of-disease-prevention/.

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StudyCorgi. 2022. "Gene Modification: Means of Disease Prevention." April 8, 2022. https://studycorgi.com/gene-modification-means-of-disease-prevention/.

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