Pioneering scientists edit genes in embryos to stop inherited diseases

Shoukhrat Mitalipov is the first U.S.-based scientist known to have edited the DNA of human embryos.		
	OHSU  Kristyna Wentz-Graff

Shoukhrat Mitalipov is the first U.S.-based scientist known to have edited the DNA of human embryos. OHSU Kristyna Wentz-Graff

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.

US scientists announced Wednesday they used gene editing technology for the first time to remove harmful genetic mutations inside human embryos.

This sequence of images shows the development of embryos after co-injection of a gene-correcting enzyme and sperm from a donor with a genetic mutation known to cause hypertrophic cardiomyopathy. That's encouraging for one potential use of CRISPR in the future as a way to correct inherited genetic disease, says Mitalipov, since the embryo seems to have a built-in, reliable way of repairing the injury caused by splicing out an abnormal gene.

American scientists have accomplished a major first: For the first time on USA soil, a human embryo has been genetically modified.

The technique would need to approach 100% effectiveness to be ready for clinical trials aimed at producing pregnancies, Mitalipov said.

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"Although it affects men and women of all ages, it's a common cause of sudden cardiac arrest in young people, and it could be eliminated in one generation in a particular family", said Sanjiv Kaul, a co-author of the study.

The mutation was successfully repaired in 72 percent of 18 embryos that were created in a lab using sperm from a male donor who carries the hereditary heart condition, said team member Dr. Paula Amato.

Critics of CRISPR have expressed concern over how the technology could be used to make "designer babies".

For the first time, an global team of scientists have discovered a way to successfully edit/free embryos of a piece of faulty DNA that causes deadly heart disease in families. At the same time, the eggs were injected with gene editing tools.

Normally cells will fix a CRISPR-induced cut in DNA by essentially gluing the ends back together. Then, the cut is spontaneously repaired by the cell with different mechanisms: one repairs the DNA without leaving any trace, while the other introduces some unwanted insertions or deletions of a few base pairs near the cutting site.

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In 2015, a United Nations bioethics committee called for a stop to human embryo gene editing for fears it could be used to modify the human race.

The technique could be used through in vitro fertilization to cure thousands of diseases caused by mutations in single genes. The Salk scientists contributed by developing the gene editing strategy, initially testing it in stem cells derived from the patient's skin cells. The first, done in China in 2015, involved embryos with serious genetic defects that prevented them from being brought to term.

The embryos were allowed to grow for five days for analysis.

Professor Peter Braude, from King's College London, said: "With this paper the possibility of germline genome editing has moved from future fantasy to the world of possibility, and the debate about its use, outside of fears about the safety of the technology, needs to run to catch up".

Embryos' self-healing DNA came as a surprise, because gene editing in other types of cells usually requires an external template, Mitalipov says.

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However, the new research, reported in the journal Nature, goes much further by modifying the nuclear DNA at the heart of the cell that influences personal characteristics such as height, facial appearance, eye colour and intelligence. The National Academies of Sciences, Engineering and Medicine had allowed the research to continue, and had sent recommendations that were followed, the researchers said. But the finding could be good news for those concerned about designer babies, because embryos may reject attempts to add new traits.

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