This is the first time a study has demonstrated the potential of combining stem cell-based disease modeling with CRISPR/Cas 9-mediated genome editing, to determine the pathogenic ability of an undescribed genetic variant known of as “variant of uncertain significance” (VUS).
Many genetic variants are known to be related to medical conditions, but whether they actually lead to disease remains unknown.
Senior author Joseph Wu (Stanford University School of Medicine, California) says random genetic testing creates a lot of stress for healthy individuals who may be getting echocardiograms, MRIs or medications that they may not need.
