Heart disease flaw removed from human embryos

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Using what is called a CRISPR gene-editing technique, the scientists said, they repaired the embryos so that a heart condition would not manifest in later life.

A research team led by Oregon Health & Science University announced Wednesday they safely repaired a disease-causing gene in human embryos for the first time in the United States, using a process allowing them to practically cut and paste DNA.

For the first time, researchers in the US have safely repaired a disease-causing gene in human embryos, targeting a heart defect best known for killing young athletes - a big step toward one day preventing a list of inherited diseases. That condition, which strikes about one in every 500 people worldwide, can cause sudden heart failure. 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.

CRISPR is a revolutionary gene-editing technique which allows scientists to insert, remove and correct DNA within a cell with pinpoint precision.

Research using human embryos is highly regulated, and is different between countries.

In 2015, scientists in China conducted the first known attempt to use CRISPR on human embryos. Researchers worked with healthy egg cells donated by women and sperm from a man affected with hypertrophic cardiomyopathy, the IBS said.

"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.

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. Based on prior research, 50% of the embryos in the study were expected to carry the bad gene.

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Around the time the sperm was injected into the eggs, researchers snipped out the gene that causes the disease. That embryo had repaired the mutation in all its cells, but some cells used the mother's DNA for fix while others used the template supplied by the researchers.

While scientists have always been able to find defective genes, fixing them has been so cumbersome that it's slowed development of genetic therapies.

Additionally, we're at least decades away from having gene therapy techniques like this one become the norm.

In this case, scientists can analyze the embryos in vitro to weed out any with the genetic defect before implantation into the womb. In addition, there are thousands of genetic diseases wherein the same procedure could be applied.

"It's an incremental step that moves us a little closer [to editing human embryos], but this [technology] isn't right around the corner", Stanford bioethicist Hank Greely told Gizmodo. As a result, only 28% of the resulting embryos carried genes for hypertrophic cardiomyopathy. It is directed to a specific location in the DNA and performs a cut-and-paste function, not unlike word-processing software.

Building on previous research from other groups, in the new research Ma and colleagues improve the success rates of DNA editing by changing the timing. Congress has barred the Food and Drug Administration from considering clinical trials involving germline engineering. The work is also consistent with recommendations issued in February 2017 by the National Academy of Sciences and the National Academy of Medicine joint panel on human genome editing.

In fact, Mitalipov said the research should offer critics some reassurance: If embryos prefer self-repair, it would be extremely hard to add traits for "designer babies" rather than just eliminate disease.

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