A pioneering study led by Dr. Lachlan Jolly at the University of Adelaide’s Neurobiology Research Group is transforming genetic diagnostics by resolving variants of uncertain significance (VUS) using skin samples. Many patients with VUS lack a definitive diagnosis because RNA from disease-causing genes often can’t be extracted from accessible tissues like blood or skin.

Study Aims to Resolve Variants of Uncertain Significance (clinicalresearchnewsonline.com)