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Gene-edited embryo study: A 'milestone' - or a route toward 'genetic upgrades'?

04 August 2017, 12:26 | Violet Powell

AP Top Stories August 2 A

First Human Embryos Edited in US

US scientists have succeeded in altering the genes of a human embryo to correct a disease-causing mutation, making it possible to prevent the defect from being passed on to future generations.

In a world first, USA researchers announced on Wednesday in the science journal Nature they had used the controversial gene editing technique, CRISPR-Cas9, to correct a mutation for a heart condition in embryos.

His team corrected a faulty gene that causes a heart condition, hypertrophic cardiomyopathy, this is the most common cause of sudden death in young athletes.

Experts have hailed research raising the prospect of Britain pioneering the use of human embryo gene editing to wipe out inherited diseases as "remarkable" and a "major advance".

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

"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 e-mail.

The experiments were privately funded; US tax dollars aren't allowed for embryo research.

But while the procedure is considered to be the first of its kind, human trials are not now allowed in the United States. The embryos were created from eggs donated by healthy women, which were artificially inseminated with sperm from males carrying the mutation.

CRISPR-Cas9 works as a pair of genetic scissors created to cut the DNA near the position of the mutation and correct the hypertrophic cardiomyopathy mutation carried in the DNA of the sperm, it said.

[Recently, ] reports emerged that scientists in OR had used gene-editing technology, known as CRISPR-Cas9, to edit a human embryo.

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The researchers found that 72.4 percent of the embryos, not 50 percent as would have been expected, were free of the errant gene.

Mitalipov and his colleagues were able to avoid the previous mistakes made by the Chinese scientists by injecting the Cas9 enzyme (which acts as a sort of scissors for DNA fragments) into the sperm and eggs at the same time. Natural DNA-repair mechanisms in the cell follow up by filling in the missing pieces.

To increase the success rate, his team introduced the genome editing components along with sperm from a male with the targeted gene defect during the in vitro fertilization process. "Moreover, if such embryos were to grow up, as will doubtless occur in the future, there are likely to be unintended effects from modifying their genes", Fr. Pacholczyk continued.

The embryo studies were conducted in the United States of America where this procedure is legal, in adherence to guidelines established by OHSU's Institutional Review Board and additional ad-hoc committees established for scientific and ethical review.

And Congress has banned the US Food and Drug Administration (FDA) from even considering the possibility of human clinical trials involving embryos with edited inherited genes.

But these embryos weren't actually allowed to develop beyond a few days.

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.

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

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. 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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