Bio-IT World October 3, 2024
Bio-IT World Staff

New work from Dr. Lachlan Jolly and the University of Adelaide’s Neurobiology Research Group is using cutting-edge RNA-based techniques to resolve genetic variants of uncertain significance (VUS) that can’t be diagnosed through traditional methods. Many disease-causing genes do not express RNA in accessible tissues like blood or skin, leaving many patients without a clear diagnosis. To overcome this, the team is utilizing two innovative methods—transactivation and transdifferentiation.

Transactivation, based on CRISPR technology, reprograms skin cells to “turn on” any gene, making it possible to obtain RNA from otherwise silent genes. Transdifferentiation, on the other hand, transforms skin cells into other types of cells, such as neurons, where these silent genes are naturally active. This enables researchers...

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