Scientists from the University of Pennsylvania have created a test using gene-editing tools such as CRISPR to identify a gene variant responsible for severe hypertrophic cardiomyopathy (SHC). SHC is an often-familial disease which thickens heart walls and is linked to a variant in the TNNT2 gene.

Published in the Circulation journal, the test involved creating a library of 14 unique TNNT2 and a platform, built using CRISPR and other editing tools, to allow rapid insertion of gene variants into induced pluripotent stem cells (iPSCs).

Using gene editing, the researchers created iPSCs containing the TNNT2 variant of a woman with inherited cardiac disease. Following this, they prompted the iPSCs to turn into mature heart muscle cells and exposed them to an adrenaline-like chemical to induce faster beating.

Irregular heartbeats would have shown that the gene variant was pathogenic, as SHC causes this irregularity. The cells responded normally, however, showing the TNNT2 variant was benign.