Kalter: Gene-editing brings hope – Boston Herald

Scientists were able to wipe out a genetic mutation that causes a potentially fatal heart defect using a controversial gene-editing method, and geneticists say it likely will become a crucial part of the fight against hereditary diseases.

Therell be a lot of people concerned about downstream effects and ethical questions, but ultimately, I think this will join the palette of tools that clinicians have to prevent and manage disease, said Brigham and Womens geneticist Dr. Robert Green. And I think its going to be a fantastic addition.

Scientists at the Oregon Health & Science University rid embryos created specifically for research of a harmful gene using a tool called CRISPR which can act like miniature scissors to snip components of DNA.

The gene that was targeted causes hypertrophic cardiomyopathy, a condition that causes heart muscles to harden and can lead to sudden cardiac arrest, especially among young athletes.

About one in 500 adults are known to suffer from the condition.

There is a 50-50 chance of passing on the mutation for a parent who carries one abnormal copy of the MYBPC3 gene.

This is going to open up a whole new arena of joint decision-making with families and clinicians, Green said. There will have to be some guidelines in place, and within those guidelines, people will have to make personal decisions about choosing the trade-off on risk.

One of those potential risks is off-target genetic sequences, which is when normal cells are unintentionally affected by the gene-editing, which researchers in this study did not report as a major problem, according to the paper published yesterday in the journal Nature.

But scientists arent even sure exactly what the repercussions of those risks would be though Green said creating unintended mutations for other diseases would be among the suspected possibilities.

The National Academies of Science, Engineering and Medicine recently cautioned scientists to explore germ-line editing for conditions without reasonable alternatives.

Hypertrophic cardiomyopathy, despite its potentially fatal consequences, does have sufficient treatment options, said Massachusetts General Hospital cardiologist Dr. Jason Wasfy. Implantable defibrillators that deliver shocks to the heart are most often used to treat the condition.

Its actually not that common in fatalities, Wasfy said. I think for this particular disease, there are pretty good ways of treating patients.

He added that the offending gene cannot be identified in roughly half the patients.

Its very difficult for us to know which patients are at high risk, he said. But, he added, The patients at risk, when we know which gene is involved, this has the potential to have a meaningful impact on their lives.

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Kalter: Gene-editing brings hope - Boston Herald