Last week, reports surfaced claiming that the first American attempt to make genetically modified, viable human embryos was a success. At the time, details were sparse: CRISPR, the ground-breaking gene-editing technique was employed, and the embryos were terminated after a few days.
The most tantalizing missing detail revolved around the type of editing that took place. Supposedly, the team – led by researchers at the Oregon Health and Science University (OHSU) in Portland – edited out a series of genes linked to an inheritable disease. At the time, the disease in question wasn’t revealed, but now, thanks to the dramatic release of a peer-reviewed Nature study, the details have been made clear.
The disease in question is a type of heart condition – hypertrophic cardiomyopathy – that often kills otherwise perfectly healthy people. It’s often symptomless until death suddenly visits the individual, which makes it particularly dangerous to leave undiagnosed.
The disease’s main effect is to thicken the muscular wall – the myocardium – to a point where it becomes stiff. Although with treatment, most people can live ordinary lives, this surprisingly common condition can lead to people getting anything from an irregular heartbeat to experiencing a sudden cardiac arrest.