Human embryos edited to stop disease

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From the recently published paper of the study, Mitalipov and his team have demonstrated how they managed to fix a "disease-causing mutation" using a new gene-editing technique.

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. That gene is known to cause hypertrophic cardiomyopathy (HCM), a heart disease that affects 1 out of 500 people. It is the most common cause of sudden death in healthy, young athletes. The consequences of the research may not be felt for quite a while yet as clinical trials remain a long way off, and are in fact now impermissible under federal law.

The experiment on human embryos was conducted by the OHSU research team in the United States. If the defect was in the woman's genes instead of the man's, then the gene editing trick uncovered by the study wouldn't work, he said.

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"We have demonstrated the possibility to correct mutations in a human embryo in a safe way and with a certain degree of efficiency", said Juan Carlos Izpisua Belmonte, a professor in Salk's Gene Expression Laboratory and a co-author of the study. 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". "However, reproductive endocrinologist Paula Amato at the OR university said such technology could rescue" embryos with gene defects.

Around the time the sperm was injected into the eggs, researchers snipped out the gene that causes the disease.

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

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The procedure involved "correcting" the DNA of one-cell embryos using CRISPR to remove the MYBPC3 gene.

More than 10,000 disorders have been linked to just a single genetic error, and as the researchers continue with their work, their next target is BRCA, a gene associated with breast cancer growth. The pressure to attempt gene editing in such early-stage embryos will be very great.

A scientific breakthrough in OR that offers hope to those with genetic defects that cause deadly diseases faces steep hurdles to be tested. The cultural implications may be just as disturbing: Some experts have warned that unregulated genetic engineering may lead to a new form of eugenics, in which people with means pay to have children with enhanced traits even as those with disabilities are devalued.

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"The very low level of off-target effects (actually apparently not distinguishable from background genomic variation) is very encouraging for future applications", said MIT scientist Richard Hynes, who co-chaired a National Academy of Sciences report on human genome editing released earlier this year. Such mosaic embryos probably arise when the fertilized egg copies its DNA before researchers add Cas9, Mitalipov says. Earlier this year the National Academy of Sciences and the National Academy of Medicine said it supported the work in the USA but only under very strict regulations. L. No. 114-113), "prohibits use of federal funds by the FDA to "acknowledge receipt of a submission to initiate clinical trials of a drug or biological product" involving 'research in which a human embryo is intentionally created or modified to include a heritable genetic modification'". However, the goal is to figure out a way to prevent children from being born with genetic diseases - not create designer babies or super soldiers, despite what the guy wearing a tinfoil hat may tell you.

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