Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease

Genomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays.

Citation:
Fear VS, Forbes CA, Shaw NC, Farley KO, Mantegna JL, Htun JP, Syn G, Viola H, Cserne Szappanos H, Hool L, Ward M, Baynam G, Lassmann T. Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease. Stem Cell Res Ther. 2023;14(1)

Keywords:
CRISPR gene editing; Cardiac disease modelling; Inducible pluripotent stem cells

Abstract:
Genomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays.