Advances in human embryo editing raise major ethical questions

Posted August 04, 2017

In Australia, the National Health and Medical Research Council has a strict set of guidelines, meaning that all research performed on human embryos is monitored very closely, and many limitations exist.

Shoukhrat Mitalipov and his colleagues from Oregon Health and Science University have successfully used the CRISPR Cas9 gene editing technology to wipe out a genetically inherited heart mutation in embryos.

For the first time in the USA, researchers have used the CRIPSR-Cas9 gene-editing system in human embryos to correct a harmful hereditary gene mutation.

Despite the team's stated goal of working towards disease eradication, much of the attention around CRISPR has focused on the potential for using the technique to create so-called "designer babies" - humans with higher-than normal levels of intelligence or athletic abilities.

An worldwide group of 11 organizations, including the American Society of Human Genetics and Britain's Wellcome Trust, on Wednesday issued a policy statement recommending against genome editing that culminates in human implantation and pregnancy, while supporting publicly funded research into its potential clinical applications.

"At this stage, I would say this is still basic research", Wu said.

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The scientists targeted a mutation in the gene MYBPC3. The disease affects 1 in 500 people, and is a leading cause of death in otherwise healthy athletes.

The researchers used sperm from a donor carrying the mutation, and eggs from healthy women.

He's also encouraged by the fact that the gene editing and fix did not introduce other errors in the DNA.

Critics of the study were quick to allege that the research team - whose work can not be taken much further in the United States given legal limitations - had already pushed the boundaries too far. But they found that their edits were imprecise.

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. In three sets of experiments in China since 2015, researchers seldom managed to get the intended change into embryonic genes.

The team created a gene-editing tool, named CRISPR-Cas9, that acts like a pair of molecular scissors to find that mutation. "So more work would be needed before this could potentially be used for heritable germline editing". The scientists made the gene edits early in the embryos' development and saw the efficiency of DNA correction go up.

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"We don't like the word editing because we didn't edit anything".

The technique could be used through in vitro fertilization to cure thousands of diseases caused by mutations in single genes.

Embryos' self-healing DNA came as a surprise, because gene editing in other types of cells usually requires an external template, Mitalipov says. At the same time as the sperm, they also introduced the editing tools genetic.

The embryos were then allowed to develop for five days, before the experiment was stopped; as no work of this kind with modified embryos is actually permitted to carry children to term, it is only for purposes of "better understanding" human development. Their work was largely funded by private donations and university money. The treatment replaces faulty inherited DNA in the mitochondria, tiny rod-like bodies in cells that supply energy, to prevent devastating diseases.

The biggest discovery was that the genetic defect originating in sperm was corrected not with the replacement gene that the researchers had inserted, but instead with a healthy gene from the donor egg. "It's not useful for things like designer babies". And even if it was there, there is still a lot of ethical considerations and scientific limitations.

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