In Breakthrough, Scientists Edit a Dangerous Mutation From Genes in Human Embryos

“We’ve always said in the past gene editing shouldn’t be done, mostly because it couldn’t be done safely,” said Richard Hynes, a cancer researcher at the Massachusetts Institute of Technology who co-led the committee. “That’s still true, but now it looks like it’s going to be done safely soon,” he said, adding that the research is “a big breakthrough.”

“What our report said was, once the technical hurdles are cleared, then there will be societal issues that have to be considered and discussions that are going to have to happen. Now’s the time.”

Scientists at Oregon Health and Science University, with colleagues in California, China and South Korea, reported that they repaired dozens of embryos, fixing a mutation that causes a common heart condition that can lead to sudden death later in life.

If embryos with the repaired mutation were allowed to develop into babies, they would not only be disease-free but also would not transmit the disease to descendants.

The researchers averted two important safety problems: They produced embryos in which all cells — not just some — were mutation-free, and they avoided creating unwanted extra mutations.

“It feels a bit like a ‘one small step for (hu)mans, one giant leap for (hu)mankind’ moment,” Jennifer Doudna, a biochemist who helped discover the gene-editing method used, called CRISPR-Cas9, said in an email.

Gene Editing in Embryos

Scientists tried two techniques to remove a dangerous mutation. In the first, genetic “scissors” were inserted into fertilized eggs. The mutation was repaired in some of the resulting embryos but not always in every cell. The second method worked better: By injecting the “scissors” along with the sperm into the egg, more embryos emerged with repaired genes in every cell.





When gene-editing components were introduced into a fertilized egg, some embryos contained a patchwork of repaired and unrepaired cells.

Gene-editing

components inserted

after fertilization

Cell with

unrepaired

gene

Mosaicism in

later-stage embryo

When gene-editing components were introduced with sperm to the egg before fertilization, more embryos had repaired mutations in every cell.

Gene-editing components

inserted together with sperm,

before fertilization

In 42 of…

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