United States scientists fix disease genes in human embryos for 1st time

Lydia Fleming
August 4, 2017

"Superior" designer babies born into the upper class with genetically modified physical appearances and intelligence could be just years away, a British geneticist has warned, after scientists announced they had used gene editing to fix a mutation in human embryos.

The research, published Wednesday in the journal Nature, shows researchers successfully used the gene-editing tool known as CRISPR to correct a mutation in nuclear DNA that causes a genetic heart disease.

An worldwide team of scientists has successfully edited of the genes of a viable human embryo, correcting a mutation that can cause the heart condition hypertrophic cardiomyopathy.

Amato, Shoukhrat and a team studied a gene mutation which causes hypertrophic cardiomyopathy, a hereditary disease of the heart muscle which can translate into sudden heart failure and death, notably in athletes.

To achieve this major breakthrough, the researchers generated stem cells from a skin biopsy from a person with HCM and, using CRISPR, specifically targeted the MYBPC3 gene for fix.

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"We need much more basic studies like this to answer the question of whether this is a feasible approach", said Salk staff scientist Jun Wu, who contributed to the study along with Salk researchers Juan Carlos Izpisua Belmonte and Keiichiro Suzuki. Researchers worked with healthy egg cells, donated by women, and sperm of a man affected by hypertrophic cardiomyopathy. In the report, he said, the scientists point out that this kind of gene editing is controversial "precisely because the resulting genetic changes would be inherited by the next generation, and the technology therefore would cross a line many have viewed as ethically inviolable".

There were 58 embryos containing the genetic mutation, and the scientists found that the faulty gene was corrected in 42 embryos, making it a success rate of 72%. In this study, the researchers injected sperm and CRISPR-Cas9 into the egg at the same time to improve the accuracy of the gene correction.

After CRISPR cut out those bad segments, the embryo itself repaired the cut.

The team said: "Mosaicism in gene-targeted human embryos is unacceptable in clinical applications".

Parents could use the scientific advancement to spare their children from a lifelong debilitating disease. Previously, scientists fertilized eggs and then added the CRISPR/Cas9 gene editor (top row).

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As a biologist, understanding if this technology is safe, and whether a healthy human baby can be born from a genetically modified human embryo seems unanswerable right now. Some opponents argue the unforeseen effects present a real danger in these types of procedures, and others worry that disease treatment with gene editing is the first step toward a future of so-called "designer babies". This is why scientists have not been allowed to develop over a few days.

Currently, the most reliable way of screening for such inherited defects is by using IVF, screening the resulting embryos for the mutation and transferring only those without the mutation for pregnancy.

In fact, current legislation in the USA prohibits the implantation of edited embryos.

But the new embryo experiments were striking for both their efficacy and a lack of adverse events like mutations in other parts of the embryos' genomes.

"Human Genome Editing: Science, Ethics and Governance" was published by the National Academy of Science, a publication that two years to produce.

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"Although it implies a future in which we could choose to have children without particular genetic diseases, or even design for particular traits, that is still likely a very long time from now", he wrote in an email to KPBS.

Other reports by Info About Network

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