Ground Breaking Scientific Results in HCM
Researchers in hypertrophic cardiomyopathy (HCM) have achieved two ground-breaking results within the past year or so. The Foundation tracks these and other breakthroughs as part of its research mission.
Late last summer scientists were successful for the first time in editing genes in dozens of human embryos to repair a common and serious disease-causing mutation. The mutation that was successfully repaired by researchers at Oregon Health and Science University, with colleagues in California, China and South Korea, is one of those that causes HCM.
This research was a major milestone in human genetic engineering, and, while a long way from clinical use, holds out the promise that one day gene editing may be able to protect against hereditary conditions and diseases such as HCM.
In recent work published this past June, researchers at Stanford developed an innovative technique for assessing the risk of mutations associated with HCM, but of unknown significance. Such mutations, called VUS (variants of unknown significance), are commonly identified in genetic testing and may be harmful or benign.
Stanford scientists created a novel platform leveraging CRISPR (clustered interspaced short palindromic repeats) – Cas9 genome editing and pluripotent stem cells to elucidate both benign and pathological phenotypes in a dish. This new methodology provides a VUS risk assessment tool that contributes significantly to the field of precision medicine