The CRISPR gene editing tool was used to fix a mutation in an embryo with the disease hypertrophic cardiomyopathy, giving scientists hope that one day they will be able to prevent such sicknesses being passed on to future generations.
The work, which was documented this week in the science journal Nature, targeted an inherited form of heart disease, but scientists said they believe the same approach could be used for other conditions created by single gene mutations, like cystic fibrosis and some types of breast cancer, The Guardian reported on Wednesday.
The study was done jointly with the Oregon Health and Science University, the Center for Genome Engineering, Seoul National University in South Korea, the Salk Institute for Biological Studies in La Jolla, California, and BGI-Qingdao and Shenzhen Engineering Laboratory for Innovative Molecular Diagnostics in China.
It marked the first time scientists had successfully tested the gene-editing method on donated clinical-quality human eggs, OHSU said.
"Every generation on would carry this repair because we've removed the disease-causing gene variant from that family's lineage," said Shoukhrat Mitalipov, who directs OHSU's Center for Embryonic Cell and Gene Therapy.
"By using this technique, it's possible to reduce the burden of this heritable disease on the family and eventually the human population."
CRISPR is the acronym for Clustered Regularly Interspaced Short Palindromic Repeats and by using an enzyme called Cas9, it can snip specific target sequences on a mutant gene.
According to OHSU, the new research discovered that human embryos can repair these breaks in the mutant gene using the normal copy of this gene from a second parent as a template. The resulting embryos would then carry the new mutation-free copies of this gene.
"If proven safe, this technique could potentially decrease the number of cycles needed for people trying to have children free of genetic disease," said co-author Dr. Paula Amato, associate professor of obstetrics and gynecology in the OHSU School of Medicine.
The study said "genome editing approaches must be further optimized" before it can be advanced to clinical trials.
"This research significantly advances scientific understanding of the procedures that would be necessary to ensure the safety and efficacy of germline gene correction," said Daniel Dorsa, senior vice president for research at OHSU.
"The ethical considerations of moving this technology to clinical trials are complex and deserve significant public engagement before we can answer the broader question of whether it's in humanity's interest to alter human genes for future generations."
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